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List of works by Albert de la Chapelle

2002 William Allan Award Address. Inherited human diseases: victories, challenges, disappointments

scientific article published on February 2003

A (1;17) translocation, balanced, plus trisomy 21, 47 chromosomes. Repository identification No. GM-201

scientific article published on January 1, 1975

A (4;11) translocation, balanced, XXXXp-Y, 49 chromosomes. Repository identification No. GM-157

scientific article published on January 1, 1975

A European research conference on the inherited disorders and their genes in different European populations

scientific article published on 01 January 1994

A Truncating Germline Mutation of TINF2 in Individuals with Thyroid Cancer or Melanoma Results in Longer Telomeres

scientific article published on 01 February 2020

A deletion in chromosome 22 can cause DiGeorge syndrome

scientific article published on 01 January 1981

A deletion map of the human Y chromosome based on DNA hybridization

scientific article

A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States

scientific article published in February 2004

A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome

scientific article

A genome-wide association study yields five novel thyroid cancer risk loci

scientific article published on 14 February 2017

A germline mutation in SRRM2, a splicing factor gene, is implicated in papillary thyroid carcinoma predisposition

scientific article published on 2 July 2015

A large pericentric inversion of human chromosome 8 ⬇️

scientific article published on May 1, 1976

A linkage map spanning the locus for diastrophic dysplasia (DTD).

scientific article

A method for simultaneous study of the karyotype, morphology, and immunologic phenotype of mitotic cells in hematologic malignancies ⬇️

scientific article published on November 1, 1984

A new heritable fragile site on human chromosome 3

scientific article published on 01 January 1983

A novel CACNA1F gene mutation causes Aland Island eye disease

scientific article

A novel approach to estimate the proportion of hereditary nonpolyposis colorectal cancer of total colorectal cancer burden

scientific article published on 01 January 1994

A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia

scientific article

A polymorphic DNA sequence from the terminal part of chromosome 12q [D12S37] ⬇️

scientific article published on March 25, 1990

A polymorphic DNA sequence from the terminal part of chromosome 20q [D20S25] ⬇️

scientific article published on March 25, 1990

A polymorphic DNA sequence from the terminal part of chromosome 20q [D20S26]

scientific article published on March 1990

A polymorphic DNA sequence from the terminal part of chromosome 21q [D21S154]

scientific article published on March 1990

A polymorphic DNA sequence from the terminal part of chromosome 5p [D5S109]

scientific article published on March 1990

A rare reciprocal translocation (12;21) segregating for nine generations

scientific article

A sequence-ready map of the Usher syndrome type III critical region on chromosome 3q

scientific article (publication date: February 2000)

A susceptibility locus for papillary thyroid carcinoma on chromosome 8q24.

scientific article published on January 2009

A theory explaining the abnormality in 45,X/46,XY mosaicism with non-fluorescent Y chromosome. presentation of three cases

scientific article published on March 1, 1978

Aberrant expression of an amplified c-myb oncogene in two cell lines from a colon carcinoma.

scientific article

Aberrant splicing of the CHM gene is a significant cause of choroideremia

scientific article (publication date: May 1992)

Abnormal protein in the cerebrospinal fluid of patients with a submicroscopic X-chromosomal deletion associated with Norrie disease: preliminary report

scientific article published in January 1991

Abnormalities of chromosome 13 in myelofibrosis

scientific article published on 01 July 1984

Abnormalities of chromosome No. 17 in myeloproliferative disorders

scientific article published on 01 February 1982

Acute myelogenous leukaemia with c-myc amplification and double minute chromosomes

scientific article published on 01 November 1985

Acute myeloid leukemia with complex karyotypes and abnormal chromosome 21: Amplification discloses overexpression of APP, ETS2, and ERG genes

scholarly article

Additional gene mutations may refine the 2017 European LeukemiaNet classification in adult patients with de novo acute myeloid leukemia aged <60 years

scientific article published on 27 May 2020

Adiposity, metabolites, and colorectal cancer risk: Mendelian randomization study

scientific article published on 17 December 2020

Adult acute myeloid leukemia with trisomy 11 as the sole abnormality is characterized by the presence of five distinct gene mutations: MLL-PTD, DNMT3A, U2AF1, FLT3-ITD and IDH2.

scientific article published on 20 July 2016

Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer

scientific article

Age-related hypermethylation of the 5' region of MLH1 in normal colonic mucosa is associated with microsatellite-unstable colorectal cancer development

scientific article published on 01 October 2001

Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements

scientific article published on 01 August 2002

Allele-specific expression of TGFBR1 in colon cancer patients

scientific article

Allelic variation in gene expression in thyroid tissue

scientific article

Altered dosage of the sex chromosomes in human testicular cancer: a molecular genetic study

scientific article published on February 1991

American founder mutation for Lynch syndrome. Prevalence estimates and implications

scientific article published in January 2006

Amnionless (AMN) mutations in Imerslund-Gräsbeck syndrome may be associated with disturbed vitamin B12 transport into the CNS.

scientific article

Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo

scientific article published on 21 April 2005

Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia

scientific article

An (X;3) translocation, balanced, 46 chromosomes. Repository identification No. GM-194

scientific article published on January 1, 1975

An American founder mutation in MLH1.

scientific article published on 30 August 2011

An XXX male resulting from paternal X-Y interchange and maternal X-X nondisjunction

scientific article

An abnormal terminal X-Y interchange accounts for most but not all cases of human XX maleness

scientific article published on 01 June 1987

An interspersed repeated sequence specific for human subtelomeric regions

scientific article

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

scientific article published in Nature

Analysis of mismatch repair genes in hereditary non–polyposis colorectal cancer patients

article

Analytic review: nature and origin of males with XX sex chromosomes ⬇️

scientific article published on January 1, 1972

Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities ⬇️

scientific article published on November 13, 2011

Anhidrotic ectodermal dysplasia gene region cloned in yeast artificial chromosomes

scientific article published on May 1993

Assessing thyroid cancer risk using polygenic risk scores

scientific article published on 04 March 2020

Assessment by Southern blot analysis of UV-induced damage and repair in human immunoglobulin genes.

scientific article

Assessment of Tumor Sequencing as a Replacement for Lynch Syndrome Screening and Current Molecular Tests for Patients With Colorectal Cancer.

scientific article published in June 2018

Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.

scientific article

Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis

scientific article

Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping

scientific article

Autoradiographic studies of chromosomal DNA synthesis in two males with female karyotypes

scientific article published on 01 January 1967

Autoradiographically identified karyotype 49,XXXXY, t(4; 11) (q35; q23) confirmed by banding

scientific article published on 01 January 1973

BAALC expression predicts clinical outcome of de novo acute myeloid leukemia patients with normal cytogenetics: a Cancer and Leukemia Group B Study

scientific article published on 15 May 2003

BAALC, a novel marker of human hematopoietic progenitor cells*1 ⬇️

scientific article published on November 1, 2003

Baalc, a marker of mesoderm and muscle

scientific journal article

Bacterial colonization of central venous catheters after heart valve surgery: a risk factor study.

scientific article published on 16 June 2015

Biallelic MUTYH mutations can mimic Lynch syndrome

scientific article

Bone marrow cytogenetics: the lineage of dividing cells changes during the first few hours in culture

scientific article published in January 1987

CITED1 protein expression suggests Papillary Thyroid Carcinoma in high throughput tissue microarray-based study

scientific article

Cancer Risk in Hereditary Nonpolyposis Colorectal Cancer Syndrome: Later Age of Onset

Cancer Risks for PMS2-Associated Lynch Syndrome

scientific article published on 30 August 2018

Cancer Risks for Relatives of Patients With Serrated Polyposis ⬇️

scientific article published on April 24, 2012

Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset.

scientific article published in August 2005

Cancer risk in mutation carriers of DNA-mismatch-repair genes

scientific article

Candidate tumor suppressor RIZ is frequently involved in colorectal carcinogenesis

scholarly article

Carrier detection and prenatal diagnosis in X linked muscular dystrophy using restriction fragment length polymorphisms

scientific article

Cartilage-hair hypoplasia

scientific article

Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis

scientific article (publication date: April 1993)

Case report on hereditary non-polyposis colon cancer (HNPCC) in Nigeria

scientific article published in March 2000

Cell labeling and separation with polyglutaraldehyde microspheres

scientific article published on 01 December 1980

Cell surface markers in cord blood leucocytes after stimulation with lipopolysaccharide B ⬇️

scientific article published on December 1, 1978

Characterization and sequencing of the sex determining region Y gene (Sry) in Akodon (Cricetidae) species with sex reversed females

scientific article published on June 1993

Characterization of a (Y;4) translocation by DNA hybridization ⬇️

scientific article published on 01 April 1988

Characterization of a new chronic lymphocytic leukemia cell line for mechanistic in vitro and in vivo studies relevant to disease

scientific article

Characterization of the colorectal cancer-associated enhancer MYC-335 at 8q24: the role of rs67491583

scientific article published on January 2012

Characterizing the function of EPB41L4A in the predisposition to papillary thyroid carcinoma

scientific article published on 17 November 2020

Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical-genealogical evidence

scientific article published on 01 May 1987

Choroideremia: linkage analysis with physically mapped close DNA-markers ⬇️

scientific article published on 01 July 1991

Chromosomal abnormalities identify high-risk and low-risk patients with acute lymphoblastic leukemia

scientific article published on 01 February 1986

Chromosomal abnormalities in acute promyelocytic leukaemia

scientific article published on 01 January 1981

Chromosomal localization of ZFX--a human gene that escapes X inactivation--and its murine homologs

scientific article published in May 1990

Chromosomal mechanisms in neoplasia

scientific article

Chromosome 12 in human testicular cancer: dosage changes and their parental origin

scientific article published in November 1992

Chromosome 16 and bone-marrow eosinophilia

scientific article published on 01 December 1983

Chromosome 7 long arm deletion in myeloid disorders: a narrow breakpoint region in 7q22 defined by molecular mapping

scientific article published on 01 January 1989

Chromosome 7 long-arm deletions in myeloid disorders: terminal DNA sequences are commonly conserved and breakpoints vary

scientific article published on 01 January 1989

Chromosome Y-specific DNA in related human XX males

scientific article

Chromosome Y-specific DNA is transferred to the short arm of X chromosome in human XX males

scientific article

Chromosome abnormalities in acute nonlymphocytic leukemia: clinical and biologic significance

scientific article published on December 1987

Chromosome abnormalities in peripheral T-cell lymphoma

scientific article published on 01 August 1987

Chromosome and gene abnormalities in malignant blood diseases

scientific article published on 01 January 1989

Chromosome anomalies in hematologic malignancies

scientific article published on 01 August 1986

Chromosome damage after intra-articular injections of radioactive yttrium. Effect of immobilization on the biological dose

scientific article

Chromosome rearrangements in acquired malignant diseases

scientific article published on 01 January 1982

Chromosome rearrangements in acquired malignant diseases. Oslo Conference (1981): Sixth International Workshop on Human Gene Mapping

scientific article published in January 1982

Chromosome studies in acute lymphoblastic leukaemia (ALL)

scientific article published on 01 March 1981

Circulating Levels of Insulin-like Growth Factor 1 and Insulin-like Growth Factor Binding Protein 3 Associate With Risk of Colorectal Cancer Based on Serologic and Mendelian Randomization Analyses

scientific article published on 27 December 2019

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

scientific article published on 01 December 1999

Clinical characteristics of patients with colorectal cancer with double somatic mismatch repair mutations compared with Lynch syndrome

scientific article published on 15 March 2019

Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene

scientific article (publication date: October 1996)

Clinical implications of GWAS variants associated with differentiated thyroid cancer

scientific article published on 01 January 2019

Clinical relevance of microsatellite instability in colorectal cancer

scientific article

Clinical significance of cytogenetics in acute myeloid leukemia

scientific article published on February 1997

Clonal chromosomal abnormalities showing multiple-cell-lineage involvement in acute myeloid leukemia

scientific article published on 01 May 1988

Clonidine premedication improves metabolic control in type 2 diabetic patients during ophthalmic surgery

scientific article published in April 2003

Close linkage to chromosome 3p and conservation of ancestral founding haplotype in hereditary nonpolyposis colorectal cancer families

scientific article published on June 1994

Clozapine-induced agranulocytosis. A genetic and epidemiologic study

scientific article published on June 30, 1977

Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene

scientific article

Clustering of private mutations in the congenital chloride diarrhea/down‐regulated in adenoma gene

article

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport ⬇️

scientific article published on May 2, 2003

Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis

scientific article published on June 1994

Coincident maternal meiotic nondisjunction of chromosomes X and 21 without evidence of autosomal asynapsis

scientific article

Colon Cancer Germline Genetics: The Unbelievable Year 1993 and Thereafter

scientific article published in July 2016

Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations

scientific article

Comment on: Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients

scientific article published on 01 October 2007

Common SNP in pre-miR-146a decreases mature miR expression and predisposes to papillary thyroid carcinoma

scholarly article

Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations

scientific article published on 6 February 2009

Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.

scientific article

Constitutional translocation t(3;6)(p14;p11) in a family with hematologic malignancies

scientific article published on 01 March 1987

Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene

scientific article

Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer

scientific article published on 01 May 2000

Conversion of diploidy to haploidy

scientific article

Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis ⬇️

scientific article published on March 20, 1995

Correction: Ultra-Rare Mutation in Long-Range Enhancer Predisposes to Thyroid Carcinoma with High Penetrance.

scientific article published on 10 September 2013

Critical chromosome rearrangement in acute promyelocytic leukemia

scientific article published on 01 April 1984

Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D(3)

scientific article

Culture of bone marrow reveals more cells with chromosomal abnormalities than the direct method in patients with hematologic disorders

scientific article published on 01 August 1981

Cumulative Burden of Colorectal Cancer-Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer

scientific article published on 19 December 2019

Cumulative risk impact of five genetic variants associated with papillary thyroid carcinoma

scientific article published on 29 August 2013

Current indications for chromosome study in congenital defects

scientific article published on 01 January 1981

Cystic fibrosis in Finland: a molecular and genealogical study

scientific article published in August 1989

Cystic fibrosis in a low-incidence population: two major mutations in Finland

scientific article published on February 1994

Cystic fibrosis mutation delta F508 in Finland: other mutations predominate

scientific article

Cytogenetic studies of 103 patients with acute myelogenous leukemia in relapse

scientific article

Cytogenetic studies of 21 patients with acute lymphoblastic leukemia in relapse

scientific article

DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer

article

DXS26 (HU16) is located in Xq21.1.

scientific article

Damage and repair induced by bleomycin in the domain of human amplified MYC oncogenes ⬇️

scientific article published on April 15, 1990

Danish type gelsolin related amyloidosis: 654G-T mutation is associated with a disease pathogenetically and clinically similar to that caused by the 654G-A mutation (familial amyloidosis of the Finnish type).

scientific article published on February 2000

Decrease of the major high molecular weight surface glycoprotein of human granulocytes in monosomy-7 associated with defective chemotaxis ⬇️

scientific article published on August 1, 1979

Defective chemotaxis in monosomy-7 ⬇️

scientific article published on January 13, 1977

Defective gene causing diastrophic dysplasia has been localized

scientific article published on January 1, 1991

Defective neutrophil migration in monosomy-7

scientific article published on 01 October 1981

Deletion mapping of stature determinants on the long arm of the Y chromosome

scientific article published on 01 March 1995

Deletion mapping of the human X chromosome ⬇️

scientific article published on 01 January 1975

Delivery of genetic services: transition from research to routine

scientific article published on 01 January 1982

Demethylation of two specific DNA sequences in expressed human immunoglobulin light kappa constant genes

scientific article published in January 1988

Determination of human paternity from the length of the Y chromosome

scientific article published on 01 June 1967

Determination of the breakpoints of 1;7 translocations in myelodysplastic syndrome by in situ hybridization using chromosome-specific alpha satellite DNA from human chromosomes 1 and 7

scientific article published on 01 January 1989

Diastrophic dysplasia gene maps to the distal long arm of chromosome 5

scientific article

Dicentric Y chromosome arising via tandem translocation

scientific article published on 01 January 1980

Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X;autosome translocation

scientific article published on 01 January 1982

Differential gene expression in patients genetically predisposed to pancreatic cancer

scientific article published on 30 June 2006

Discovery of common and rare genetic risk variants for colorectal cancer

scientific article published on 03 December 2018

Discovery of common variants associated with low TSH levels and thyroid cancer risk

scientific journal article

Disease gene mapping in isolated human populations: the example of Finland

scientific article

Dissection of the Major Hematopoietic Quantitative Trait Locus in Chromosome 6q23.3 Identifies miR-3662 as a Player in Hematopoiesis and Acute Myeloid Leukemia

scientific article published on 27 June 2016

Dominantly and recessively inherited cornea plana congenita map to the same small region of chromosome 12

scientific article published on 01 April 1996

Double somatic mismatch repair gene pathogenic variants as common as Lynch syndrome among endometrial cancer patients

scientific article published on 21 October 2020

Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea.

scientific article published in January 1999

Downregulation of death-associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia

scientific article

Early diagnosis and screening of colonic adenomatous polyposis

scientific article published on January 1, 1991

Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies

scientific article published in December 1990

Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for Lynch syndrome

scientific article published on 12 August 2009

Erratum to: Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study.

scientific article published in October 2010

Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state

scientific article published on 01 October 1999

Evaluation of Allele-Specific Somatic Changes of Genome-Wide Association Study Susceptibility Alleles in Human Colorectal Cancers ⬇️

scientific article (publication date: 2012)

Evaluation of a counselling protocol for predictive genetic testing for hereditary non-polyposis colorectal cancer

scientific article

Evidence for heritable predisposition to epigenetic silencing of MLH1

scientific article published on 01 April 2007

Evidence supporting exclusion of the DCC gene and a portion of chromosome 18q as the locus for susceptibility to hereditary nonpolyposis colorectal carcinoma in five kindreds

scientific article published on August 1991

Evolution of zinc finger-Y and zinc finger-X genes in oryzomyne-akodontine rodents (Cricetidae)

scientific article published on January 1, 1992

Exchange of terminal portions of X- and Y-chromosomal short arms in human XX males

scientific article published in Nature

Expression of the human mismatch repair gene hMSH2 in normal and neoplastic tissues

scientific article published on 01 January 1996

Extramedullary pleural blast crisis during otherwise chronic phase in chronic granulocytic leukaemia

scientific article published on 01 July 1980

FETAL LEUKOCYTES IN THE MATERNAL CIRCULATION AFTER DELIVERY

article published in 1974

Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family

scientific article

Familial erythrocytosis genetically linked to erythropoietin receptor gene

scientific article published in The Lancet

Familial pericentric inversion inv(8)(p23q11)

scientific article

Feasibility of screening for Lynch syndrome among patients with colorectal cancer

scientific article published on 22 September 2008

Fetal leukocytes in the maternal circulation

scientific article published on 01 January 1976

Fine mapping of 14q13 reveals novel variants associated with different histological subtypes of papillary thyroid carcinoma

article

Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium

scientific article published on July 1995

Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene

scientific article published in December 1990

Fluorescence microscopy--a simple test for XYY

scientific article published on 01 January 1971

Fourth International Workshop on Chromosomes in Leukemia 1982: Clinical significance of chromosomal abnormalities in acute nonlymphoblastic leukemia

scientific article published on 01 March 1984

Frequent PIK3CA Mutations in Colorectal and Endometrial Tumors With 2 or More Somatic Mutations in Mismatch Repair Genes

scientific article published on 11 June 2016

Function of neutrophils in preleukaemia.

scientific article

Functional Significance and Clinical Phenotype of Nontruncating Mismatch Repair Variants of MLH1

scientific article published in August 2005

GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer

scientific article published on 07 August 2020

Galectin-3, fibronectin-1, CITED-1, HBME1 and cytokeratin-19 immunohistochemistry is useful for the differential diagnosis of thyroid tumors

scientific article published in January 2005

Gelsolin–derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187

Gender verification in competitive sports

scientific article

Gender verification in the Olympics.

scientific article

Gender verification of female athletes

scientific article

Gene expression and functional evidence of epithelial-to-mesenchymal transition in papillary thyroid carcinoma invasion

scholarly article

Gene expression in papillary thyroid carcinoma reveals highly consistent profiles ⬇️

scientific article published on December 18, 2001

Gene expression profiling of isogenic cells with different TP53 gene dosage reveals numerous genes that are affected by TP53 dosage and identifies CSPG2 as a direct target of p53

scientific article

General report on the first international workshop on chromosomes in leukemia ⬇️

scientific article published on March 15, 1978

Genetic Characterization and Prognostic Relevance of Acquired Uniparental Disomies in Cytogenetically Normal Acute Myeloid Leukemia

scientific article published on 02 August 2019

Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers

scientific article published on May 2000

Genetic and molecular studies on 46,XX and 45,X males

scientific article published on 01 January 1986

Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p.

scientific article

Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait

scientific article

Genetic control of serum IgE levels and asthma: linkage and linkage disequilibrium studies in an isolated population

scientific article published in November 1997

Genetic counseling in a Navajo hereditary nonpolyposis colorectal cancer kindred

scientific article published in January 1996

Genetic counselling in Duchenne and Becker muscular dystrophy is problematic when carrier studies give controversial results

scientific article published on 01 March 1990

Genetic evidence of X-Y interchange in a human XX male

scientific article published on January 1984

Genetic homogeneity of cartilage-hair hypoplasia

scientific article published on 01 February 1995

Genetic mapping of 12 marker loci in the Xp22.3-p21.2 region

scientific article published on 01 April 1991

Genetic mapping of the erythropoietin receptor gene

scientific article

Genetic predisposition to colorectal cancer

scientific article

Genetic predisposition to human disease: allele-specific expression and low-penetrance regulatory loci

scientific article published on 13 July 2009

Genetic predisposition to papillary thyroid carcinoma: involvement of FOXE1, TSHR, and a novel lincRNA gene, PTCSC2

scientific article

Genetic susceptibility to non-polyposis colorectal cancer

scientific article

Genetic testing may prevent hereditary nonpolyposis colorectal cancer. Hamilton Fairley Lecture, held at the ESMO Congress, Vienna, November 2-5, 1996.

scientific article published in November 1996

Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East

scientific article

Genetics of hereditary colon cancer

scientific article published on January 1995

Genome-Wide Expression Screening Discloses Long Noncoding RNAs Involved in Thyroid Carcinogenesis

scientific article published on 26 July 2016

Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk

scientific article published on 29 July 2020

Genome-wide association study identifies an acute myeloid leukemia susceptibility locus near BICRA

scientific article published on 05 October 2018

Genomic characterization of human DSPG3.

scientific article published on May 1999

Genomic sequence matters: a SNP in microRNA-146a can turn anti-apoptotic.

scientific article

Genomic structure of the human congenital chloride diarrhea (CLD) gene

scientific article

Germline allele-specific expression of DAPK1 in chronic lymphocytic leukemia

scientific article

Germline allele-specific expression of TGFBR1 confers an increased risk of colorectal cancer

scientific article published on 14 August 2008

H-Y antigen in 46,XY gonadal dysgenesis

scientific article published on January 1980

HABP2 G534E Variant in Papillary Thyroid Carcinoma

scientific article published on 8 January 2016

HABP2 Mutation and Nonmedullary Thyroid Cancer

Haemophilia A: two recombinations detected with probe St14.

scientific article

Haplotype analysis to determine the position of a mutation among closely linked DNA markers

article

Haplotype and multipoint linkage analysis in Finnish choroideremia families

scientific article published on December 1989

Hashimoto's thyroiditis with papillary thyroid carcinoma (PTC)-like nuclear alterations express molecular markers of PTC.

scientific article

Hemophilia A: genetic prediction and linkage studies in all available families in Finland

scientific article

Hemophilia B: diagnostic value of RFLP analysis in 19 of the 20 known Finnish families

scientific article

Hereditary Intrinsic Factor Deficiency in Chaldeans ⬇️

scientific article published on March 18, 2012

Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma

scientific article published on July 2001

Hereditary colorectal cancer

scientific article published on 01 March 2003

Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene

scientific article

Heritable polymorphism predisposes to high BAALC expression in acute myeloid leukemia ⬇️

scientific article published on April 9, 2012

Heteromorphic X Chromosomes in 46,XX males? ⬇️

scientific article published on 01 November 1979

High BAALC expression associates with other molecular prognostic markers, poor outcome, and a distinct gene-expression signature in cytogenetically normal patients younger than 60 years with acute myeloid leukemia: a Cancer and Leukemia Group B (CAL

scientific article published on 31 March 2008

High resolution of a small pericentric inversion of chromosome 11.

scientific article

High-Resolution Mapping and Transcript Identification at the Progressive Epilepsy with Mental Retardation Locus on Chromosome 8p ⬇️

scientific article published on September 1, 1997

High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families

scientific article published in April 1994

High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene.

scientific article published in November 1994

High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23.

scientific article

Higher frequency of 51--clone in bone marrow mitoses after culture than by a direct method

scientific article published on 01 October 1980

Histologic features distinguish microsatellite-high from microsatellite-low and microsatellite-stable colorectal carcinomas, but do not differentiate germline mutations from methylation of the MLH1 promoter.

scientific article

Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease

scientific article published on 01 July 1992

Homozygous AMN mutation in hereditary selective intestinal malabsorption of vitamin B12 in Jordan.

scientific article

How do human isochromosomes arise?

scientific article published on 01 February 1982

How do we approach the goal of identifying everybody with Lynch Syndrome? ⬇️

scientific article published on June 1, 2013

Human bone marrow cytogenetics: growth factors stimulate metaphases for specific lineages

scientific article published on 01 June 1989

Human sex-chromosome-specific repeats within a region of pseudoautosomal/Yq homology

scientific article

Human testicular cancer. Changes in autosomal dosage

scientific article published on 01 August 1990

Human type I procollagen genes are located on different chromosomes ⬇️

scientific article published on November 1, 1982

Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome

scientific article published on February 2001

Hypermethylation of the MLH1 promoter with concomitant absence of transcript and protein occurs in small patches of crypt cells in unaffected mucosa from sporadic colorectal carcinoma

scientific article published on 01 March 2006

Hypermethylation, but not LOH, is associated with the low expression of MT1G and CRABP1 in papillary thyroid carcinoma

scientific article

Hypermutability and mismatch repair deficiency in RER+ tumor cells

scientific article published on December 1993

Identical genetic locus for Baltic and Mediterranean myoclonus

scientific article published on 01 May 1992

Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques

scientific article

Identification of Lynch syndrome among patients with colorectal cancer

scientific article published on October 2012

Identification of NRAS isoform 2 overexpression as a mechanism facilitating BRAF inhibitor resistance in malignant melanoma

scientific article published on 21 August 2017

Identification of Rare Variants Predisposing to Thyroid Cancer

scientific article published on 13 May 2019

Identification of a Recurrent LMO7-BRAF Fusion in Papillary Thyroid Carcinoma

scientific article

Identification of a deletion in the mismatch repair gene, MSH2, using mouse-human cell hybrids monosomal for chromosome 2

scientific article published on 01 March 2003

Identification of a novel noncoding RNA gene, NAMA, that is downregulated in papillary thyroid carcinoma with BRAF mutation and associated with growth arrest.

scientific article

Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease

scientific article

Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).

scientific article published in September 1999

Identifying Lynch syndrome

scientific article published on September 2009

Identifying novel susceptibility genes for colorectal cancer risk from a transcriptome-wide association study of 125,478 subjects

scientific article published on 12 October 2020

Immunodepletion plasma proteomics by tripleTOF 5600 and Orbitrap elite/LTQ-Orbitrap Velos/Q exactive mass spectrometers

scientific article published on 19 September 2013

Immunoglobulin kappa and lambda light chain dual genotype rearrangement in a patient with kappa-secreting B-CLL

scientific article published on 01 July 1988

Immunoglobulin transcript sequence and somatic hypermutation computation from unselected RNA-seq reads in chronic lymphocytic leukemia

scientific article

Immunology and the Lynch syndrome

scientific article published on April 2008

Impact of walking epidural analgesia on obstetric outcome of nulliparous women in spontaneous labour

scientific article published on 24 January 2006

Implementation of standardized variant-calling nomenclature in the age of next-generation sequencing: where do we stand?

scientific article published on 24 January 2019

In situ localization and characterization of different classes of chromosomal DNA: acridine orange and quinacrine mustard fluorescence

In-depth characterization of the microRNA transcriptome in normal thyroid and papillary thyroid carcinoma

scientific article published on 19 June 2013

Incidence of Hereditary Nonpolyposis Colorectal Cancer and the Feasibility of Molecular Screening for the Disease

article

Increased sister chromatid exchange in megaloblastic anaemia-studies on bone marrow cells and lymphocytes

scientific article published on 01 January 1978

Inducible fragile site on chromosome 3

scientific article published on 01 January 1983

Infrequent detection of germline allele-specific expression of TGFBR1 in lymphoblasts and tissues of colon cancer patients

scientific article published on 9 June 2009

Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns ⬇️

scientific article published on August 28, 2012

Inherited interstitial del(Xp) with minimal clinical consequences: with a note on the location of genes controlling phenotypic features

scientific article published on 01 January 1979

Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells

scientific article published on 14 October 2020

Interstitial deletion in the long arm of chromosome 1 in a subject with congenital abnormalities. Repository identification No. GM-214

scientific article published on January 1, 1979

Intronic miR-3151 within BAALC drives leukemogenesis by deregulating the TP53 pathway

scientific article

Inverted tandem duplication of the short arm of chromosome 8: a non-random de novo structural aberration in man. Localization of the gene for glutathione reductase in subband 8p21.1.

scientific article published on 01 January 1982

Is the disruption of an N-myristoyltransferase (NMT2) associated with hypoplastic testes?

scientific article published on 01 August 2007

Lambda Ig constant region genes are translocated to chromosome 8 in Burkitt's lymphoma with t(8;22).

scientific article published on February 1983

Linkage and linkage disequilibrium in the Finnish disease heritage

scientific article

Linkage data on chromosome 11

scientific article published on January 1, 1978

Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis

scientific article

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

scholarly article by J Hästbacka et al published November 1992 in Nature Genetics

Linkage disequilibrium mapping in isolated populations: The example of Finland revisited ⬇️

scientific article published on October 13, 1998

Linkage disequilibrium mapping of the cornea plana congenita gene CNA2

scientific article published on 01 December 1995

Linkage relationships and gene order around the locus for X-linked retinoschisis

scientific article

Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq.

scientific article

Linkage, physical mapping, and DNA sequence analysis of pseudoautosomal loci on the human X and Y chromosomes

scientific article published in November 1987

Linked polymorphic DNA markers in the prediction of X-linked muscular dystrophy

scientific article published on 01 October 1987

Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22 ⬇️

scientific article published on May 1, 1991

Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis

scientific article

Localization of progressive myoclonus epilepsy gene opens new horizons for epilepsy research

scientific article published on 01 January 1992

Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis.

scientific article

Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping

scientific article

Long-range PCR facilitates the identification of PMS2-specific mutations.

scientific article

Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer

article

Loss-of-Function Mutations in PPARγ Associated with Human Colon Cancer

scientific article published on 01 June 1999

Low cancer incidence rates in Ohio Amish

scientific article

MSH2 and MLH1 mutations in sporadic replication error‐positive colorectal carcinoma as assessed by two‐dimensional DNA electrophoresis

article

MSH2 andMLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis

article

MSH6 missense mutations are often associated with no or low cancer susceptibility

scientific article published on October 2004

MYH9 binds to lncRNA gene PTCSC2 and regulates FOXE1 in the 9q22 thyroid cancer risk locus

scientific article published on 03 January 2017

Mapping DNA sequences in a human X-chromosome deletion which extends across the region of the Duchenne muscular dystrophy mutation

scientific article

Mapping hereditary disorders

scientific article published in October 1985

Mapping of the gene for glutathione reductase on chromosome 8

scientific article published on 01 December 1976

Mapping of the regulatory subunits RI beta and RII beta of cAMP-dependent protein kinase genes on human chromosome 7

scientific article (publication date: September 1992)

Marked amine and amine metabolite changes in Norrie disease patients with an X-chromosomal deletion affecting monoamine oxidase

scientific article published in January 1990

Massive Invasion of Fetal Lymphocytes into the Mothers Blood at Induced Abortion ⬇️

scientific article published on 01 September 1975

Medical genetics in practice and teaching

scientific article published on 01 January 1981

Methotrexate-induced increase in gap formation in human chromosome band 3p14

scientific article published on 01 January 1982

Methylated SEPTIN9 plasma test for colorectal cancer detection may be applicable to Lynch syndrome

scientific article published on 28 May 2019

MicroRNA signature in thyroid fine needle aspiration cytology applied to "atypia of undetermined significance" cases

scientific article published on 2 December 2011

MicroRNA-3151 inactivates TP53 in BRAF-mutated human malignancies

scientific article

MicroRNA-related sequence variations in human cancers

scientific article

MicroRNAs in thyroid cancer

scientific article

Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene ⬇️

scientific article published on August 28, 2011

Microdeletions in patients with X-linked muscular dystrophy: molecular-clinical correlations

scientific article published in February 1988

Microsatellite Instability Occurs in a Subset of Follicular Thyroid Cancers

scientific article published on 27 March 2019

Microsatellite instability

scientific article published on 01 July 2003

Microsatellite instability in adenomas as a marker for hereditary nonpolyposis colorectal cancer

scientific article published on December 1999

Microsatellite instability in cervical and endometrial carcinomas

scientific article published on 01 March 1997

Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation

scientific article

Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability

scientific article published on 01 January 1995

Mismatch repair genes and mononucleotide tracts as mutation targets in colorectal tumors with different degrees of microsatellite instability

scientific article

Missense and nonsense mutations in codon 659 of MLH1 cause aberrant splicing of messenger RNA in HNPCC kindreds

scientific article published on 01 December 1999

Molecular analysis of hemophilia A mutations in the Finnish population

scientific article

Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene

scientific article

Molecular basis of chromosome banding. I. The effect of mouse DNA fractions on two fluorescent dyes in vitro

scientific article published on July 1975

Molecular basis of chromosome banding. II. The effect of silver and mercury ions on the fluorescence intensity of acranil-DNA complexes

scientific article

Molecular basis of chromosome banding. III. Fluorescence of acridines with nucleic acid polymers

scientific article published on 01 February 1977

Molecular characterization of a Y;15 translocation segregating in a family

scientific article published on May 1988

Molecular characterization of chromosome 7 long arm deletions in myeloid disorders

scientific article published on 01 November 1987

Molecular control of differentiation: DNA, RNA and haemoglobin synthesis in the erythroid cells of foetal mice

scientific article published on January 1, 1972

Molecular mapping of the putative gonadoblastoma locus on the Y chromosome

scientific article published in November 1995

Molecular profiling of chronic lymphocytic leukaemia: genetics meets epigenetics to identify predisposing genes

scientific article published on 24 October 2007

Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism ⬇️

scientific article published on April 1, 1998

Molecular studies of the sex chromosomes in human testicular cancer: pronounced changes in X and Y chromosome dosage in some tumors

scientific article published on 01 September 1989

Monoamine oxidase deficiency in males with an X chromosome deletion

scientific article published on 01 January 1989

Monocytic involvement by monosomy 7 preceded acute myelomonocytic leukemia in a patient with myelodysplastic syndrome

scientific article published on 01 February 1988

Monosomy 7 in Granulocytes and Monocytes in Myelodysplastic Syndrome

Monosomy 7 predisposes to diabetes insipidus in leukaemia and myelodysplastic syndrome

scientific article published on November 1987

Mosaicism and sporadic haemophilia: implications for carrier determination

scientific article

Multiple cytogenetic methods used to identify a new structural rearrangement of the human X chromosome ⬇️

scientific article published on January 1, 1978

Multiple functional variants in long-range enhancer elements contribute to the risk of SNP rs965513 in thyroid cancer

scientific article published on 27 April 2015

Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic ⬇️

scientific article published on May 1, 1995

Mutation Frequencies in Patients With Early-Onset Colorectal Cancer-Reply

scientific article published on 01 November 2017

Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure

scientific article

Mutation patterns identify adult patients with de novo acute myeloid leukemia aged 60 years or older who respond favorably to standard chemotherapy: an analysis of Alliance studies

scientific article published on 25 February 2018

Mutation sharing, predominant involvement of the MLH1 gene and description of four novel mutations in hereditary nonpolyposis colorectal cancer. Mutations in brief no. 144. Online

scientific article published on January 1998

Mutational Landscape and Gene Expression Patterns in Adult Acute Myeloid Leukemias with Monosomy 7 as a Sole Abnormality

scientific article published on 26 October 2016

Mutational landscape and clinical outcome of patients with de novo acute myeloid leukemia and rearrangements involving 11q23/KMT2A

scientific article published on 05 October 2020

Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1

scientific article

Mutations in KERA, encoding keratocan, cause cornea plana

scientific article

Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I

scientific article

Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

scientific article

Mutations in the CCND1 and CCND2 genes are frequent events in adult patients with t(8;21)(q22;q22) acute myeloid leukemia

scientific article

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia

scientific article (publication date: 26 January 2001)

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

scientific article

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

scientific article

Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea

scientific article

Mutations predisposing to hereditary nonpolyposis colorectal cancer

scientific article (publication date: 1997)

NF1 mutations are recurrent in adult acute myeloid leukemia and confer poor outcome

NOR activity in two families with balanced D;D translocations and numerous consecutive miscarriages

scientific article published on 01 January 1980

NRAS isoforms differentially affect downstream pathways, cell growth, and cell transformation

scientific article published on 28 February 2014

Neuroblastoma RAS viral oncogene homolog mRNA is differentially spliced to give five distinct isoforms: implications for melanoma therapy

scientific article published on 01 October 2019

New genetics in medicine

scientific article published on 01 January 1990

New methods in gene mapping

scientific article published in January 1988

No evidence for microsatellite instability in acute myeloid leukemia

scientific article published on 24 March 2017

Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis

scientific article published on October 1985

Norrie disease gene is distinct from the monoamine oxidase genes.

scientific article

Oncogenes in human testicular cancer: DNA and RNA studies ⬇️

scientific article published on June 1, 1991

Origin of chromosomal aberrations in male fertility disorders

scientific article published on 01 January 1979

Origins and prevalence of the American Founder Mutation of MSH2.

scientific article

Overexpression of the ETS-related gene, ERG, predicts a worse outcome in acute myeloid leukemia with normal karyotype: a Cancer and Leukemia Group B study

scientific article

PD-1 Blockade in Tumors with Mismatch-Repair Deficiency

scientific article

PME of Unverricht-Lundborg type in the Mediterranean region: linkage and linkage disequilibrium confirm the assignment to the EPM1 locus

scientific article published on 01 June 1994

PMS2 monoallelic mutation carriers: the known unknown

scientific article

PTCSC3 Is Involved in Papillary Thyroid Carcinoma Development by Modulating S100A4 Gene Expression

scientific article

PTEN mutational spectra, expression levels, and subcellular localization in microsatellite stable and unstable colorectal cancers

scientific article published on August 2002

Pallister-Killian syndrome: cytogenetic and molecular studies

scientific article

Papillary Thyroid Carcinoma: Association Between Germline DNA Variant Markers and Clinical Parameters

scientific article published on 24 June 2016

Papillary and follicular thyroid carcinomas show distinctly different microarray expression profiles and can be distinguished by a minimum of five genes

scientific article

Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea.

scientific article published in October 1994

Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein

scientific article published on 22 August 2006

Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses

scientific article

Penetrance of a rare familial mutation predisposing to papillary thyroid cancer

scientific article

Performance of PREMM(1,2,6), MMRpredict, and MMRpro in detecting Lynch syndrome among endometrial cancer cases

scientific article published on 8 March 2012

Pericentric inversions of human chromosomes 9 and 10.

scientific article published on November 1974

Permanent tooth sizes in 46, XX-males ⬇️

scientific article published on October 1, 1979

Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3 ⬇️

scientific article published on January 1, 1998

Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implications

scientific article

Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study

scientific article

Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland

scientific article

Plasma amine oxidase activities in Norrie disease patients with an X-chromosomal deletion affecting monoamine oxidase

scientific article published on 01 January 1991

Polymerase delta variants in RER colorectal tumours

scientific article

Polymorphic mature microRNAs from passenger strand of pre-miR-146a contribute to thyroid cancer

scholarly article

Polymorphic variation at the BAT-25 and BAT-26 loci in individuals of African origin. Implications for microsatellite instability testing

scientific article published on August 1999

Poor Survival and Differential Impact of Genetic Features of Black Patients with Acute Myeloid Leukemia

scientific article published on 04 December 2020

Population-based molecular detection of hereditary nonpolyposis colorectal cancer

scientific article published in June 2000

Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31

article

Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation

scientific article

Predictive genetic testing for hereditary non-polyposis colorectal cancer: uptake and long-term satisfaction

scientific article published on 01 January 2000

Prenatal diagnosis

scientific article

Prenatal diagnosis of X-linked chronic granulomatous disease using restriction fragment length polymorphism analysis

scientific article published on 01 September 1987

Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers

scientific article

Prevalence and Molecular Analysis of Two Hot Spots for Ectopic Recombination Leading to XX Maleness

scientific article published on 01 July 1995

Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer

scientific article

Primary Cell Culture Systems for Human Thyroid Studies.

scientific article published on 13 June 2016

Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q.

scientific article published in June 1996

Progressive myoclonus epilepsy of Unverricht-Lundborg type: a clinical and molecular genetic study of a family from the United States with four affected sibs

scientific article published on 01 November 1993

Prostate cancer incidence in males with Lynch syndrome

scientific article

Protein A radio-assay of H-Y antigen on human leukocytes using mouse and rat antisera and monoclonal antibodies

scientific article published on 01 January 1983

Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes

scientific article published in Nature

Reappraisal of a 46, X, i(Xp) karyotype as 46, X, del (Xq)

scientific article published on 01 January 1975

Rearrangement of ALL1 (MLL) in acute myeloid leukemia with normal cytogenetics ⬇️

scientific article published on 01 January 1998

Recessive sex-determining genes in human XX male syndrome ⬇️

scientific article published on 01 November 1978

Reconstructing hominid Y evolution: X-homologous block, created by X-Y transposition, was disrupted by Yp inversion through LINE--LINE recombination ⬇️

scientific article published on January 1, 1998

Recurrent and founder mutations in the PMS2 gene.

scientific article

Red cell glutathione reductase activity in patients with bone-marrow trisomy 8

scientific article published on 01 January 1976

Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy

scientific article published on 01 July 1997

Refined localization of the gene causing X-linked juvenile retinoschisis

scientific article

Refined mapping of the Cohen syndrome gene by linkage disequilibrium

scientific article published on July 1, 1997

Refinement of human chromosome 7 map around the pro alpha 2(I)collagen gene by long-range restriction mapping

scientific article

Repetitious DNA in mammalian chromosomes

scientific article

Report of the committee on chromosome rearrangements in neoplasia and on fragile sites ⬇️

scientific article published on January 1, 1984

Report of the committee on the genetic constitution of chromosomes 10, 11, 12, X, and Y

scientific article published on 01 January 1980

Report of the committee on the genetic constitution of chromosomes 10, 11, 12, X, and Y.

scientific article

Reprogramming of miRNA networks in cancer and leukemia

scientific article

Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability ⬇️

scientific article

Risk Haplotypes Uniquely Associated with Radioiodine-Refractory Thyroid Cancer Patients of High African Ancestry

scientific article published on 13 February 2019

Risk factors for colorectal cancer in patients with multiple serrated polyps: a cross-sectional case series from genetics clinics

scientific article

Risks of Lynch syndrome cancers for MSH6 mutation carriers

scientific article

Role of PTPRJ genotype in papillary thyroid carcinoma risk

scientific article published on 29 October 2010

Role of cancer-associated stromal fibroblasts in metastatic colon cancer to the liver and their expression profiles

scientific article published on September 2004

SRGAP1 is a candidate gene for papillary thyroid carcinoma susceptibility

scientific article published on 28 March 2013

Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients

scientific article published on 01 August 2006

Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

scientific article

Segregation and fertility analysis in an autosomal reciprocal translocation, t(1;8)(q41;q23.1)

scientific article

Selective intestinal malabsorption of vitamin B12 displays recessive mendelian inheritance: assignment of a locus to chromosome 10 by linkage.

scientific article published on October 1995

Semiautomated assessment of loss of heterozygosity and replication error in tumors

scientific article published on 01 July 1996

Sister chromatid exchanges in human bone marrow cells I. Control subjects and patients with leukaemia

scientific article published on January 1, 1978

Six-year follow-up of the clinical significance of karyotype in acute lymphoblastic leukemia

scientific article published on July 1989

Skewed secondary sex ratio in the offspring of carriers of the 214G > A mutation of the RS1 gene

scientific article published on 01 November 1999

Somatic MED12 mutations are associated with poor prognosis markers in chronic lymphocytic leukemia

scientific article

Somatic acquisition and signaling of TGFBR1*6A in cancer

scientific article

Steroid sulphatase levels in XX males, including observations on two affected cousins

scientific article published on 01 January 1981

Stimulation of human fetal lymphocytes by lipopolysaccharide B in culture

scientific article

Stimulation of human fetal lymphocytes by lipopolysaccharide B in culture. Studies on cells circulating in maternal blood ⬇️

scientific article published on August 1, 1978

Stimulatory and cytotoxic activity on human adult and fetal lymphocytes by heterologous antihuman fetal lymphocyte sera ⬇️

scientific article published on May 1, 1979

Strategies for screening for hereditary non-polyposis colorectal cancer

scientific article

Structural characterization of NRAS isoform 5

scientific article published on 7 March 2016

Study of p.N247S KERA mutation in a British family with cornea plana.

scientific article

TGFBR1*6A may contribute to hereditary colorectal cancer

scientific article published in May 2005

Telomere length and telomerase reverse transcriptase gene copy number in patients with papillary thyroid carcinoma

scientific article

Testing tumors for microsatellite instability

scientific article

Tgfbr1 haploinsufficiency is a potent modifier of colorectal cancer development

scientific article published on January 2009

The 1985 human gene map and human gene mapping in 1985

scientific article published on 01 January 1985

The 5q— Chromosome in Preleukaemia and Acute Leukaemia ⬇️

scientific article published on 01 August 1981

The Colton blood groups in monosomy 7 of the bone marrow

scientific article published on 01 January 1976

The I1307K polymorphism of the APC gene in colorectal cancer

article

The MNSs blood groups of families with chromosome 4 rearrangements

scientific article published on 01 February 1981

The Olympic Games and Athletic Sex Assignment

scientific article

The Search for Unaffected Individuals with Lynch Syndrome: Do the Ends Justify the Means? ⬇️

scientific article published on January 1, 2011

The Y-chromosomal and autosomal testis-determining genes

scientific article published on 01 January 1987

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations

scientific article

The clinical significance of karyotype in acute myelogenous leukemia

scientific article

The complicated issue of human sex determination

scientific article

The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

scientific article

The distribution of linkage disequilibrium over anonymous genome regions

scientific article published on May 1995

The early years of the ESHG leading to the reform of 1988 and the spirit of the Sestri Levante school

scientific article published in December 2017

The etiology of XX sex reversal

scientific article published on January 1990

The etiology of maleness in XX men

scientific article published on 01 January 1981

The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population

scientific article

The frequency of Muir-Torre syndrome among Lynch syndrome families

scientific article

The frequency of XYY and XXY men among criminal offenders ⬇️

scientific article published on March 1, 1981

The frequency of an inactivating point mutation (566C-->T) of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry

scientific article published on 01 December 1998

The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless

scientific article

The gene encoding human low-molecular weight insulin-like growth-factor binding protein (IGF-BP25): regional localization to 7p12-p13 and description of a DNA polymorphism

scientific article (publication date: November 1989)

The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8

scientific article published on July 1994

The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator

scientific article published on November 1993

The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease

scientific article

The genetics of cornea plana congenita

scientific article

The genetics of hereditary common cancers ⬇️

scientific article published on June 1, 1998

The incidence of Lynch syndrome

scientific article

The inheritance of fragile sites: apparent absence of fra(2)(q13) in the parents of three unrelated probands

scientific article

The intrinsic factor-vitamin B12 receptor, cubilin, is a high-affinity apolipoprotein A-I receptor facilitating endocytosis of high-density lipoprotein.

scientific article

The methylation pattern of normal and truncated amplified human c-myc oncogenes

scientific article published on 01 April 1989

The minisatellite expansion mutation in EPM1: resolution of an initial discrepancy. Mutatations in brief no. 186. Online

scientific article published on 01 January 1998

The mutational oncoprint of recurrent cytogenetic abnormalities in adult patients with de novo acute myeloid leukemia

scientific article

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

scientific article

The origin of 45,X males

scientific article

The parental origin of X chromosomes in XX males determined using restriction fragment length polymorphisms ⬇️

scientific article published on May 1, 1984

The partial tandem duplication of ALL1 in acute myeloid leukemia with normal cytogenetics or trisomy 11 is restricted to one chromosome

scientific article

The pattern of methylation in rearranged and germ-line human immunoglobulin constant mu genes

scientific article published on 01 August 1987

The polymorphism rs944289 predisposes to papillary thyroid carcinoma through a large intergenic noncoding RNA gene of tumor suppressor type

scientific article

The proportion of mitoses in different cell lineages changes during short-term culture of normal human bone marrow

scientific article published in May 1986

The role of NRG1 in the predisposition to papillary thyroid carcinoma

scientific article

The role of SMAD3 in the genetic predisposition to papillary thyroid carcinoma

scientific article published on 4 January 2018

The role of microRNA genes in papillary thyroid carcinoma

scientific article

The sex-determining region of the human Y chromosome encodes a finger protein.

scientific article

The sex-determining zinc finger sequences in XY females of Akodon azarae (Rodentia, Cricetidae)

scientific article published on 01 January 1989

The use and misuse of sex chromatin screening for 'gender identification' of female athletes

scientific article published in October 1986

The use of cytogenetic abnormalities in bone marrow cells for mapping by gene dosage

scientific article published on August 1, 1976

Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina

scientific article (publication date: August 2002)

Three dinucleotide repeat polymorphisms proximal to the D2S123 locus

scientific article published on 01 November 1994

Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland

scientific article (publication date: April 1999)

Thyroid Carcinomas That Occur in Familial Adenomatous Polyposis Patients Recurrently Harbor Somatic Variants in APC, BRAF, and KTM2D

scientific article published on 01 March 2020

Thyroid Hormone Receptor β (THRB) Is a Major Target Gene for Micro-RNAs Deregulated in Papillary Thyroid Carcinoma (PTC).

scientific article published in February 2011

Thyroid hormone receptor beta (THRB) is a major target gene for microRNAs deregulated in papillary thyroid carcinoma (PTC)

scientific article

Tooth sizes in two males with deletions of the long arm of the Y-chromosome

scientific article published on 01 February 1981

Transformation in chronic granulocytic leukaemia. Different blast cell clones in different anatomical sites

scientific article published on January 1979

Translocation (2;11) (p21;q23) in acute non-lymphocytic leukaemia: a non-random association

scientific article published on 01 January 1986

Trisomy 12 in B cells of patients with B-cell chronic lymphocytic leukemia

scientific article published on 01 April 1986

Trisomy 12 in hematologic disorders

scientific article published on 01 October 1980

Trisomy 8 in the bone marrow associated with high red cell glutathione reductase activity ⬇️

scientific article published on 01 May 1976

Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis

scientific article

Tumor formation and inactivation of RIZ1, an Rb-binding member of a nuclear protein-methyltransferase superfamily

scientific article

Two pericentric inversions of human chromosome 11 ⬇️

scientific article published on October 1, 1977

Ultra-rare mutation in long-range enhancer predisposes to thyroid carcinoma with high penetrance

scientific article

Uneven geographical distribution of 15;17-translocation in acute promyelocytic leukaemia ⬇️

scientific article published on October 7, 1978

Uniparental disomy in cartilage-hair hypoplasia

scientific article (publication date: 1997)

Unraveling the genetic predisposition to differentiated thyroid carcinoma

scientific article published on October 2013

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

scientific article

Variants in LRRC34 reveal distinct mechanisms for predisposition to papillary thyroid carcinoma

scientific article published on 12 February 2020

Variants in microRNA genes in familial papillary thyroid carcinoma

scientific article published on 23 December 2016

Variants in the ATM-CHEK2-BRCA1 axis determine genetic predisposition and clinical presentation of papillary thyroid carcinoma

scientific article

Variants in the netrin-1 receptor UNC5C prevent apoptosis and increase risk of familial colorectal cancer

scientific article published on 3 September 2011

What's new in the genetics of familial colon cancer?

scientific article published on January 1, 1991

Workshop on cancer cytogenetics

scientific article published on 01 January 1982

X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28

scientific article

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

scientific article

X-linked retinoschisis is closely linked to DXS41 and DXS16 but not DXS85

scientific article published on 01 September 1987

Y;autosome translocations and mosaicism in the aetiology of 45,X maleness: assignment of fertility factor to distal Yq11

scientific article published on 01 May 1988

[A breakthrough in solving the genetic background of colon cancer]

scientific article

[A serine/threonine kinase gene defective in Peutz-Jeghers syndrome]

scientific article published on 01 January 1998

[Congenital chloride diarrhea gene error in the anion transporter protein]

scientific article published on 01 January 1999

[Diagnosis of Duchenne's muscular dystrophy using recombinant DNA technics]

scientific article published on 01 January 1985

[Diagnosis of hemophilia A and B by recombinant DNA methods]

scientific article published on 01 January 1987

[Do men need follicle-stimulating hormone?]

scientific article published on 01 January 1997

[Helicopter Science]

scientific article published on 01 January 1996

[Heritable X-chromosome disease]

scientific article published on 01 January 1988

[Inherited primary amenorrhea. The first gynecological disease of Finnish heritage]

scientific article published on 01 January 1996

[Is it possible to eradicate inherited polyposis coli in colorectal cancer by using genetic diagnosis]

scientific article published on 01 January 1996

[Sex determination and its anomalies]

scientific article published on 01 January 1988

[Stop the sex chromatin test in sports medicine. A bad selective method causing tragedy]

scientific article published on 01 October 1988

hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds

scientific article (publication date: September 1994)

miR-3151 Interplays With its Host Gene BAALC and Independently Impacts on Outcome of Older Patients With Cytogenetically Normal Acute Myeloid Leukemia by Direct Deregulation of TP53

article

miR-3151 interplays with its host gene BAALC and independently affects outcome of patients with cytogenetically normal acute myeloid leukemia

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p53 Codon 72 and MDM2 SNP309 Polymorphisms and Age of Colorectal Cancer Onset in Lynch Syndrome

scientific article published on 01 October 2005

t(11;19)(q23;p11) in a child with acute T-cell leukemia

scientific article published in February 1985

t(1;3)(p36;q21) in acute nonlymphocytic leukemia: a new cytogenetic-clinicopathologic association

scientific article

The gene defect for Finnish hereditary amyloidosis has been found

article published in 1991

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