List of works by Magnus Nordenskjöld

1p and 3p deletions in meningiomas without detectable aberrations of chromosome 22 identified by comparative genomic hybridization

1p and 3p deletions in meningiomas without detectable aberrations of chromosome 22 identified by comparative genomic hybridization

scientific article published on 01 December 1997

4th Pediatric Allergy and Asthma Meeting (PAAM)

scientific article (publication date: November 2016)

A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking

scientific article published on 3 May 2017

A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation.

scientific article published on 6 March 2018

A case of acute lymphoblastic leukemia, near-triploidy, and poor outcome: characterization by fluorescence in situ hybridization using chromosome-specific libraries from all human chromosomes

scientific article

A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size

scientific article published in June 2004

A constitutional mutation within the retinoblastoma gene detected by PFGE

article

A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors

scientific article published in November 1998

A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis

scientific article published on 25 July 2013

A high degree of aneuploidy in frozen-thawed human preimplantation embryos

scientific article

A map of 22 loci on human chromosome 22.

scientific article published in November 1991

A normal male with an inherited deletion of one exon within the DMD gene

scientific article published in January 1990

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.

scientific article

A putative susceptibility locus on chromosome 18 is not a major contributor to human selective IgA deficiency: evidence from meiotic mapping of 83 multiple-case families.

scientific article published on August 1999

Activating mutations of the Gs alpha-gene in nonfunctioning pituitary tumors

scientific article published in September 1993

Allele losses in malignant melanoma reflect random events

scientific article published on July 1990

Amplification-free sequencing of cell-free DNA for prenatal non-invasive diagnosis of chromosomal aberrations

scientific article published on 24 December 2014

An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2.

scientific article published on 14 January 2014

An integrative proteomics method identifies a regulator of translation during stem cell maintenance and differentiation

scientific article published on 12 November 2021

An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities

scientific article published in July 2009

Analysis of association and linkage for the interleukin-4 and interleukin-4 receptor b;alpha; regions in Swedish atopic dermatitis families

scientific article published on 01 August 2002

Analysis of microsatellite repeats in pediatric brain tumors.

scientific article

Analysis of short stature homeobox-containing gene ( SHOX ) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity

scientific article published in November 2001

Application of single-needle blastomere biopsy in human preimplantation genetic diagnosis

scientific article published on 01 December 1998

Are BIC (miR-155) Polymorphisms Associated with Eczema Susceptibility?

Array-CGH reveals hidden gene dose changes in children with acute lymphoblastic leukaemia and a normal or failed karyotype by G-banding.

scientific article published in March 2008

Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden

scientific article published on 20 December 2006

Assignment of the human FAU gene to a subregion of chromosome 11q13.

scientific article

Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD).

scientific article published on April 2007

Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186

scientific article published on 24 September 2019

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 21 October 2020

Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course

scientific article published on 26 March 2014

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia

article

Bi-orientation of achiasmatic chromosomes in meiosis I oocytes contributes to aneuploidy in mice

scientific article

Bilateral multiple renal oncocytomas and cysts associated with a constitutional translocation (8;9)(q24.1;q34.3) and a rare constitutional VHL missense substitution

scientific article published on 01 March 1998

Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability

scientific article published on 12 July 2011

Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression

scientific article published on 16 December 2010

Birt-Hogg-Dubé syndrome: diagnosis and management

scientific article published in December 2009

Birt-Hogg-Dubé syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2.

scientific article

CTNND2-a candidate gene for reading problems and mild intellectual disability

scientific article published on 3 December 2014

Candidate genes for multiple endocrine neoplasia type 1

article

Cell-free tumour DNA testing for early detection of cancer - a potential future tool

scientific article published on 08 April 2019

Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations.

scientific article published on 29 May 2008

Characterization by phenotype of families with atopic dermatitis

scientific article published on 01 March 2000

Characterization of EGFR and ErbB2 expression in atopic dermatitis patients

scientific article published on 3 May 2012

Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis

scientific article published in October 2008

Characterization of add(I)(p36) in non-hodgkin lymphomas by fluorescence in situ hybridization

scientific article published in May 1995

Characterization of drug-resistant cell lines by comparative genomic hybridization.

scientific article

Characterization of neuropeptide Y in pediatric neural crest tumors: relation to tumor malignancy and genetic findings

scientific article published in January 1991

Characterization of stem-like cells in mucoepidermoid tracheal paediatric tumor

scientific article

Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH).

scientific article

Characterization of the frequency of delta F508 mutation and CF haplotypes in Swedish families

Characterization of the murine VEGF-related factor gene

scientific article published on March 1996

Children and adults with acute lymphoblastic leukaemia have similar gene expression profiles.

scientific article published in June 2005

Chromosomal deletions in anaplastic meningiomas suggest multiple regions outside chromosome 22 as important in tumor progression.

scientific article published in February 1994

Chromosome 9 deletion mapping reveals interferon alpha and interferon beta-1 gene deletions in human glial tumors.

scientific article published in March 1991

Chromosome aberrations and sister-chromatid exchange in workers in chemical laboratories and a rotoprinting factory and in children of women laboratory workers

scientific article published on August 1977

Clinical Testing for Mutations in theMEN1Gene in Sweden: A Report on 200 Unrelated Cases

scientific article published in September 2007

Clinical and genetic studies of Birt-Hogg-Dubé syndrome.

scientific article published on December 2002

Clinical outcome of treatment cycles using preimplantation genetic diagnosis for structural chromosomal abnormalities.

scientific article

Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations

scientific article published on April 2010

Clonal culturing of human embryonic stem cells on laminin-521/E-cadherin matrix in defined and xeno-free environment

scientific article published on January 2014

Clonal genomic alterations in glioma malignancy stages.

scientific article published in October 1988

Cloning and characterization of a novel human gene related to vascular endothelial growth factor

scientific article

Cloning of a novel, anonymous gene from a megabase-range YAC and cosmid contig in the neurofibromatosis type 2/meningioma region on human chromosome 22q12.

scientific article

Combined genetic and transcriptional profiling of acute myeloid leukemia with normal and complex karyotypes

scientific article published on 01 September 2004

Combined newborn screening for familial hemophagocytic lymphohistiocytosis and severe T- and B-cell immunodeficiencies.

scientific article

Combined spectral karyotyping, comparative genomic hybridization, and in vitro apoptyping of a panel of Burkitt's lymphoma-derived B cell lines reveals an unexpected complexity of chromosomal aberrations and a recurrence of specific abnormalities in

scientific article published on March 2006

Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production

scientific article published on 2 January 2013

Complete characterization of a large marker chromosome by reverse and forward chromosome painting

scientific article

Compound heterozygousHAX1mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities

scientific article published in December 2009

Constitutional deletions predisposing to retinoblastoma

scientific article published on 01 June 1990

Copy number variation characteristics in subpopulations of patients with autism spectrum disorders

scientific article published on 8 December 2010

Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment.

scientific article published in January 2003

Cytogenetic analysis by chromosome painting using DOP-PCR amplified flow-sorted chromosomes

scientific article

Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients

scientific article published on 15 September 2007

Degenerate oligonucleotide-primed PCR: General amplification of target DNA by a single degenerate primer

scientific article published on 01 July 1992

Deletion mapping in human renal cell carcinoma

scientific article published on 01 March 1989

Deletion mapping of a locus on human chromosome 22 involved in the oncogenesis of meningioma

scientific article

Deletions on chromosome 16 in primary familial breast carcinomas are associated with development of distant metastases

article

Deletions on chromosome 22 in sporadic meningioma

scientific article published in June 1994

Detailed characterization of a complex karyotype in a patient with primary plasma cell leukaemia using multicolour spectral karyotyping and micro-FISH

scientific article published in 2000

Detailed characterization of a complex karyotype in a patient with primary plasma cell leukaemia using multicolour spectral karyotyping and micro-FISH

scientific article published on 01 January 2000

Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3).

scientific article published in April 2005

Detailed gene dose analysis reveals recurrent focal gene deletions in pediatric B-cell precursor acute lymphoblastic leukemia

scientific article published on 19 April 2016

Detailed physical map of human chromosomal region 11q12-13 shows high meiotic recombination rate around the MEN1 locus

scientific article published on December 1991

Detecting dic(9;20)(p13.2;p11.2)-positive B-cell precursor acute lymphoblastic leukemia in a clinical setting using fluorescence in situ hybridization

scientific article published on 21 June 2013

Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb.

scientific article published in July 2005

Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).

scientific article

Detection of human cytomegalovirus in medulloblastomas reveals a potential therapeutic target

scientific article published on 26 September 2011

Diagnostic challenges for a novel SH2D1A mutation associated with X-linked lymphoproliferative disease

scientific article published on 29 January 2020

Difference between Swedish and Japanese men in the association between AR CAG repeats and prostate cancer suggesting a susceptibility-modifying locus overlapping the androgen receptor gene

article

Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients

scientific article published on 18 April 2017

Differences in the repair of DNA strand breaks induced by 9-hydroxy-benzo(a)pyrene and trans-7,8-dihydro-7,8-dihydroxy-benzo(a)pyrene in cultured human fibroblasts

scientific article

Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity

scientific article

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

scientific article published on 7 November 2013

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

scientific article published on March 2016

Disruption of tubular Flcn expression as a mouse model for renal tumor induction.

scientific article published on 17 June 2015

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

scientific article published on 25 September 2019

Distinct deleted regions on chromosome segment 16q23-24 associated with metastases in prostate cancer

scientific article published in March 1999

Doublede novomutations ofELANE(ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy

Duplication 16q12.1–q22.1 characterized by array CGH in a girl with spina bifida

scientific article published in May 2007

Duplication of 2q31-qter as a sole aberration in a case of non-Hodgkin's lymphoma.

scientific article published on September 1996

Early prenatal diagnosis of the ICF syndrome

scientific article published on 01 October 2000

Effects of ultraviolet light and cyclophosphamide on replication and repair synthesis of DNA in isolated rat liver cells and human leukocytes co-incubated with microsomes

scientific article published on 01 January 1978

Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.

scientific article

Elevated expression and genetic association links the SOCS3 gene to atopic dermatitis

scientific article

Evaluation of Single Nucleotide Variants in Ethiopian Patients with Atopic Dermatitis

scientific article published in 2018

Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas

article

Exclusion of FAU as the Multiple Endocrine Neoplasia type 1 (MEN1) gene

scientific article published in 1993

Exclusion of the 13-kDa rapamycin binding protein gene (FKBP2) as a candidate gene for multiple endocrine neoplasia type 1

Exclusion of the phosphoinositide-specific phospholipase C beta 3 (PLCB3) gene as a candidate for multiple endocrine neoplasia type 1

scientific article published in January 1997

Expression of LAZ3/BCL6 in follicular center (FC) B cells of reactive lymph nodes and FC-derived non-Hodgkin lymphomas

scientific article published on April 1997

Expression of the neuronal form of pp60c-src in neuroblastoma in relation to clinical stage and prognosis ⬇️

scientific article published on November 1, 1990

Expression of the phosphoinositide-specific phospholipase Cbeta3 gene in the rat

article

FISH-mapping of a 100-kb terminal 22q13 deletion

scientific article (publication date: May 2002)

Familial isolated hyperparathyroidism: a distinct genetic entity with an increased risk of parathyroid cancer

scientific article published on 01 December 1993

Families with hereditary cancer--a target group for prevention

scientific article published in November 1990

Family Screening in Multiple Endocrine Type 1 (MEN 1) Neoplasia

scientific article published in January 1994

Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization

scientific article published on January 1995

Filaggrin genotype determines functional and molecular alterations in skin of patients with atopic dermatitis and ichthyosis vulgaris

scientific article

Finnish mutations in Swedish HNPCC families

scientific article published in November 1995

First report on metastasizing small bowel carcinoids in first-degree relatives in three generations

scientific article published on 12 May 2010

Four separate regions on chromosome 17 show loss of heterozygosity in familial breast carcinomas

scientific article published on 01 March 1993

Frequent amplification of the telomerase reverse transcriptase gene in human tumors

article

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

scientific article published on 07 November 2019

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

scientific article published on 25 February 2019

Gene dosage array can even discover small chromosome changes. More children with developmental deviations may be offered an etiological diagnosis

scientific article published in April 2010

Genetic basis of PD-L1 overexpression in diffuse large B-cell lymphomas

scientific article published on 30 March 2016

Genetic mapping of a second locus predisposing to hereditary non–polyposis colon cancer

scientific article published on 01 November 1993

Genetic origin of mutations predisposing to retinoblastoma

scientific article published on April 1985

Genetic rearrangements in sporadic and familial gastric carcinomas detected with microsatellite markers

scientific article published on 01 December 1994

Genetic studies of thymic carcinoids in multiple endocrine neoplasia type 1

scientific article

Genetic toxicity of dopamine

scientific article published in October 1983

Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis

scientific article

Genome-wide linkage analysis of allergic rhinoconjunctivitis in a Swedish population

article

Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome.

scientific article published in February 2005

Genomic alterations in human breast carcinomas

scientific article published in September 1990

Genomic organization and complete cDNA sequence of the human phosphoinositide-specific phospholipase C beta 3 gene (PLCB3)

scientific article published on 10 April 1995

Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability

Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencing

article

Global expression profiling in atopic eczema reveals reciprocal expression of inflammatory and lipid genes

scientific article

Gossypol induces DNA strand breaks in human fibroblasts and sister chromatid exchanges in human lymphocytes in vitro.

scientific article

HAX-1 expression in human B lymphoma.

scientific article

Haploinsufficiency of UNC13D increases the risk of lymphoma

scientific article published on 13 February 2019

Hematopoietic stem cell transplantation in severe congenital neutropenia

scientific article published on 11 November 2010

Hemizygosity for chromosome 2q14.2-q22.1 spanning the GLI2 and PROC genes associated with growth hormone deficiency, polydactyly, deep vein thrombosis and urogenital abnormalities

scientific article published on 28 March 2006

Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency

scientific article published on 13 January 2015

Hereditary breast cancer in sweden: a predominance of maternally inherited cases

scientific article published in June 1992

High expression of cyclin B1 predicts a favorable outcome in patients with follicular lymphoma

scientific article published on 2 December 2004

High expression of the EGFR in fibroadenomas compared to breast carcinomas

scientific article

High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing.

scientific article published on 12 March 2018

High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting.

scientific article published in February 2011

Highly abnormal cleavage divisions in preimplantation embryos from translocation carriers

scientific article published on 01 December 2000

Homozygous deletions of CDKN2A are present in all dic(9;20)(p13·2;q11·2)-positive B-cell precursor acute lymphoblastic leukaemias and may be important for leukaemic transformation.

scientific article

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

scientific article published on 19 June 2017

Human estrogen receptor beta-gene structure, chromosomal localization, and expression pattern

scientific article published in December 1997

Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2.

scientific article

Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.

scientific article published on 9 January 2008

Identification of numerical and structural chromosome aberrations in 15 high hyperdiploid childhood acute lymphoblastic leukemias using spectral karyotyping

scientific article published in May 2001

Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth

scientific article published in PLoS ONE

Identification of twelve new RFLP-markers on chromosome 22q11-qter

article

Identification, characterisation and clinical applications of cosmids from the telomeric and centromeric regions of the long arm of chromosome 22.

scientific article published on October 1994

Impact of IKZF1 deletions and PAX5 amplifications in pediatric B-cell precursor ALL treated according to NOPHO protocols

scientific article published on 29 March 2013

Inactivation of BHD in sporadic renal tumors.

scientific article

Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia

scholarly article by Göran Carlsson et al published 25 May 2012 in British Journal of Haematology

Increased expression of Ki-67 in mantle cell lymphoma is associated with de-regulation of several cell cycle regulatory components, as identified by global gene expression analysis.

scientific article published in June 2004

Increased frequency of sister chromatid exchanges in cigarette smokers

scientific article published on January 1978

Induction and repair of DNA strand breaks in cultured human fibroblasts exposed to various phenols and dihydrodiols of benzo[a]pyrene

scientific article published in August 1982

Induction of cell damage by menadione and benzo(a)-pyrene-3,6-quinone in cultures of adult rat hepatocytes and human fibroblasts

scientific article published in October 1985

Induction of dna damage by menadione (2-methyl-1,4-naphthoquinone) in primary cultures of rat hepatocytes

scientific article published in June 1984

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

scientific article published on 17 March 2021

Interphase fluorescence in situ hybridization and spectral karyotyping reveals hidden genetic aberrations in children with acute lymphoblastic leukaemia and a normal banded karyotype

scientific article published in September 2001

Interphase fluorescent in situ hybridization deletion analysis of the 9p21 region and prognosis in childhood acute lymphoblastic leukaemia (ALL): results from a prospective analysis of 519 Nordic patients treated according to the NOPHO-ALL 2000 proto

scientific article published on 17 January 2011

Intragenic Copy Number Variation in the Filaggrin Gene in Ethiopian Patients with Atopic Dermatitis.

scientific article published on 10 March 2017

Isolation and characterization of a novel gene close to the human phosphoinositide-specific phospholipase C beta 3 gene on chromosomal region 11q13

scientific article published in February 1996

Isolation and mapping of polymorphic cosmid clones used for sublocalization of the multiple endocrine neoplasia type 1 (MEN1) locus

scientific article published in May 1992

Isolation of anonymous, polymorphic DNA fragments from human chromosome 22q12-qter

scientific article

Knowledge and Attitudes Regarding Non-Invasive Prenatal Testing (NIPT) and Preferences for Risk Information among High School Students in Sweden

scientific article published on 2 August 2016

Kostmann syndrome or infantile genetic agranulocytosis, part one: celebrating 50 years of clinical and basic research on severe congenital neutropenia

scientific article published on December 2006

Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia

scientific article published on June 2007

Lack of association between filaggrin gene mutations and onset of psoriasis in childhood.

scientific article published on 20 December 2011

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 01 October 2020

Linkage analysis with markers on 17q in 29 Swedish breast cancer families

scientific article

Linkage and association to candidate regions in Swedish atopic dermatitis families

scientific article published on 01 August 2001

Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome

scientific article published on July 1990

Localization of the MEN1 gene to a small region within chromosome 11q13 by deletion mapping in tumors

scientific article

Loss of constitutional heterozygosity in human cancer.

scientific article published on January 1991

Loss of heterozygosity in familial breast carcinomas

scientific article published on 01 September 1993

Loss of heterozygosity in human ductal breast tumors indicates a recessive mutation on chromosome 13

scientific article

Loss of heterozygosity in malignant gliomas involves at least three distinct regions on chromosome 10.

scientific article published in September 1993

Loss of heterozygosity studies in tumors from families with breast-ovarian cancer syndrome

scientific article published on 01 September 1994

Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia

scientific article published in April 2007

Mantle cell lymphomas acquire increased expression of CCL4, CCL5 and 4-1BB-L implicated in cell survival

scientific article published on 14 November 2005

Mapping of the gene for multiple endocrine neoplasia type I to chromosome 11q13

article

Maternal filaggrin mutations increase the risk of atopic dermatitis in children: an effect independent of mutation inheritance

scientific article published on 10 March 2015

Mice lacking asparaginyl endopeptidase develop disorders resembling hemophagocytic syndrome

scholarly article

Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.

scientific article published on May 1991

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

article

Mitotic recombination of chromosome 17 in astrocytomas

scientific article

Moisturizing treatment of patients with atopic dermatitis and ichthyosis vulgaris improves dry skin, but has a modest effect on gene expression regardless of FLG genotype.

scientific article

Molecular analysis of 4p deletion associated with Wolf-Hirschhorn syndrome moving the ?critical segment? towards the telomere

scientific article published on 01 March 1991

Molecular and cytogenetic analysis in stillbirth: results from 481 consecutive cases

scientific article published on 19 July 2014

Molecular characterization of human telomerase reverse transcriptase-immortalized human fibroblasts by gene expression profiling: activation of the epiregulin gene

scientific article

Molecular cytogenetic approach to the diagnosis of splenic lymphoma: a case report of blastoid mantle cell lymphoma

scientific article published in July 2003

Molecular cytogenetic characterization of acute myeloid leukemia and myelodysplastic syndromes with multiple chromosome rearrangements

scientific article published on 01 November 2001

Molecular genetic analysis of chromosome 22 in 81 cases of meningioma

article

Morphology, DNA ploidy and allele losses on chromosome 11 in sporadic hyperparathyroidism and that associated with multiple neoplasia, type 1.

scientific article published on April 1992

Multiple endocrine neoplasia

scientific article published on 01 January 1990

Multiple endocrine neoplasia type 1

scientific article published in August 2000

Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma

scientific article

Multiple inherited sequence variations in two disease-causing genes in familial haemophagocytic lymphohistiocytosis

scientific article published on 19 May 2009

Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families

article

Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy

scientific article published on 10 February 2015

Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal

scientific article published on August 1994

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway

scientific article (publication date: 4 September 2014)

Neutrophil elastase and granulocyte colony-stimulating factor receptor mutation analyses and leukemia evolution in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden

scientific article published on 01 May 2006

Normal structural dopamine type 2 receptor gene in prolactin-secreting and other pituitary tumors

scientific article published in March 1994

Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19.

scientific article published on 12 March 2018

Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3.

scientific article published on 14 May 2013

Novel filaggrin mutation but no other loss-of-function variants found in Ethiopian patients with atopic dermatitis.

scientific article published on 17 October 2011

Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis.

scientific article published on 7 April 2011

One-cell biopsy significantly improves the outcome of preimplantation genetic diagnosis (PGD) treatment: retrospective analysis of 569 PGD cycles at the Stockholm PGD centre

scientific article published on 26 June 2012

Ovarian failure in HAX1-deficient patients: is there a gender-specific difference in pubertal development in severe congenital neutropenia or Kostmann disease?

scientific article published in January 2013

Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia

scientific article published on 22 October 2019

Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.

scientific article published on 30 September 2015

Phosphoinositide 3-kinase regulates a subset of interferon-alpha-stimulated genes

scientific article published on 27 October 2006

Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women

scientific article published on 19 May 2016

Practical guidelines for DNA-based testing in multiple endocrine neoplasia type 1

scientific article published on 01 January 1992

Predicting the risk of multiple endocrine neoplasia type 1 for patients with commonly occurring endocrine tumors

scientific article published on 11 May 2012

Prediction of familial predisposition to retinoblastoma

scientific article published on 01 May 1986

Prediction of the Risk of Hereditary Retinoblastoma, Using DNA Polymorphisms within the Retinoblastoma Gene

scientific article published on 21 January 1988

Predisposition for breast cancer in carriers of constitutional translocation 11q;22q

scientific article published in May 1994

Preimplantation genetic diagnosis of DiGeorge syndrome

scientific article published on 01 September 1998

Preimplantation genetic diagnosis of a large pericentric inversion of chromosome 5

scientific article published on 01 July 1998

Prenatal diagnosis: molecular genetics and cytogenetics

scientific article published in October 2002

Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array

scientific article published in March 2008

Prostaglandin synthase-catalyzed metabolic of some aromatic amines to genotoxic products

scientific article published on 01 July 1984

Prostaglandin synthetase-catalyzed activation of phenacetin metabolites to genotoxic products

scientific article published on 01 September 1982

Proteasome inhibition induces apoptosis in primary human natural killer cells and suppresses NKp46-mediated cytotoxicity

scientific article published on 19 February 2009

Raji revisited: cytogenetics of the original Burkitt's lymphoma cell line

scientific article published on January 2005

Reactive products formed by peroxidase catalyzed oxidation of p-phenetidine

scientific article published on November 1984

Recessive cancer genes and chromosomal mechanisms in tumorigenesis.

scientific article

SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED).

scientific article published in April 2014

Screening for copy number alterations in loci associated with autism spectrum disorders by two-color multiplex ligation-dependent probe amplification

scientific article published in January 2010

Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis

scientific article (publication date: 2003)

Sequence analysis of theSRGN, AP3B1, ARF6, andSH2D1A genes in familial hemophagocytic lymphohistiocytosis

article

Sequence and expression of the mouse homologue to human phospholipase C beta3 neighboring gene

scientific article published in June 1996

Simian AIDS-related lymphoma growth in severe combined immunodeficiency mice is independent of karyotypic abnormalities or Bcl-6 mutations

scientific article published on March 2002

Single cell CGH analysis reveals a high degree of mosaicism in human embryos from patients with balanced structural chromosome aberrations

scientific article

Smoking and sister chromatid exchange

scientific article published on 01 January 1982

Somatic and MEN 2A de novo mutations identified in the RET proto-oncogene by screening of sporadic MTC: s

scientific article published in 1994

Spectral karyotyping and interphase FISH reveal abnormalities not detected by conventional G-banding. Implications for treatment stratification of childhood acute lymphoblastic leukaemia: detailed analysis of 70 cases

scientific article published in January 2002

Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies

scientific article published in April 2006

Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations

scientific article published on 16 July 2015

Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2.

scientific article published on 17 June 2010

Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis

scientific article

Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis

scientific article published in March 2008

Sporadic cardiac myxomas and tumors from patients with Carney complex are not associated with activating mutations of the Gsα gene

scientific article published on 2 July 1996

Strand-break formation in DNA modified by benzo[a]pyrene diolepoxide Quantitative cleavage by Escherichia coli uvr ABC endonuclease

scientific article published in June 1983

Studies of DNA-strand induced in human fibroblasts by chemical mutagens/carcinogens

scientific article published on December 1979

Studies on the in vitro transfer of DNA binding benzo[a]pyrene metabolites from rat hepatocytes to human fibroblasts

scientific article published on January 1981

Sublocalization of a locus at 3p21.3?23 predisposing to hereditary nonpolyposis colon cancer

scientific article published on 01 August 1994

Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.

scientific article published in August 2004

Subtelomeric rearrangements detected in patients with idiopathic mental retardation

scientific article published on February 2002

Survivin expression in the bone marrow of patients with severe congenital neutropenia

scientific article published on 25 September 2008

Susceptibility loci for atopic dermatitis on chromosome 21 in a Swedish population

scientific article published in May 2006

Susceptibility loci for atopic dermatitis on chromosomes 3, 13, 15, 17 and 18 in a Swedish population

scientific article published on 01 June 2002

Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: Prevalence and characterization by fluorescencein situ hybridization

scientific article published in November 1994

Syntaxin-11 is expressed in primary human monocytes/macrophages and acts as a negative regulator of macrophage engulfment of apoptotic cells and IgG-opsonized target cells

scientific article published on 11 June 2008

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis

scientific article published on 18 December 2015

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

scientific article published on 13 February 2017

Tetrasomy 15q: two marker chromosomes with no detectable alpha-satellite DNA

scientific article published in May 1994

The Wiskott-Aldrich syndrome gene as a candidate gene for atopic dermatitis

article

The aromatase gene CYP19A1: several genetic and functional lines of evidence supporting a role in reading, speech and language

scientific article

The biology of inherited cancer.

scientific article

The effect of gossypol on the frequency of DNA-strand breaks in human leukocytes in vitro

scientific article published in February 1986

The frequency and prognostic impact of dic(9;20)(p13.2;q11.2) in childhood B-cell precursor acute lymphoblastic leukemia: results from the NOPHO ALL-2000 trial.

scientific article published on 18 January 2011

The identification of bases in DNA involved in covalent binding of the reactive metabolite from 9-hydroxybenzo[a]pyrene.

scientific article

The molecular genetics of meningiomas

scientific article published on September 1990

The performance of CGH array for the detection of cryptic constitutional chromosome imbalances

scientific article published in March 2004

The proteasome inhibitor bortezomib disrupts tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) expression and natural killer (NK) cell killing of TRAIL receptor-positive multiple myeloma cells

scientific article published on 9 June 2010

The tight junction gene Claudin-1 is associated with atopic dermatitis among Ethiopians.

scientific article published on 31 August 2016

Tight linkage between the Beckwith-Wiedemann syndrome and a microsatellite marker for the TH locus.

scientific article published in October 1993

Tiling-resolution array-CGH reveals the pattern of DNA copy number alterations in acute lymphoblastic leukemia with 21q amplification: the result of telomere dysfunction and breakage/fusion/breakage cycles?

scientific article published on 22 February 2007

Tumor suppressor genes (TSG).

scientific article

Tumorigenesis in colorectal tumors from patients with hereditary non-polyposis colorectal cancer

scientific article published on 8 October 1997

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation

scientific article published on 16 November 2016

Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis

scientific article published on 26 March 2015

X-linked recessive ichthyosis: an impaired barrier function evokes limited gene responses before and after moisturizing treatments.

scientific article published on 10 August 2012

[Birth-Hogg-Dube syndrome--a neglected condition that increases the risk of kidney cancer and pneumothorax]

scientific article published on 01 December 2011

[Carrier diagnosis of retinoblastoma with molecular genetic methods]

scientific article published on 01 March 1984

[Familial adenomatous polyposis. The gene of the disease was recently isolated--the pathogenesis of colonic cancer can be explained]

scientific article published on 01 October 1992

[Hereditary thyroid cancer can be cured by prophylactic surgery]

scientific article published in June 2001

[Identification of cancer genes has made the testing of predisposition possible. Genetic counseling and mutation screening can result in new therapeutic methods]

scientific article published on 01 August 1999

[Kostmann's syndrome largely elucidated--by Swedish research. 50 years since Rolf Kostmann's pioneering work on severe congenital neutropenia].

scientific article published in December 2006

[Marfan syndrome. An old syndrome in a new light]

scientific article published on 01 March 1994

[Multiple endocrine neoplasia type 2 A: identification of the gene simplifies screening]

scientific article published on 01 March 1994

[New analytic methods provide answers regarding chromosome aberrations in 1-2 days]

scientific article published on 01 September 2002

[Nobody will be punished for one's own hereditary disposition. Genetic information should be protected by law]

scientific article published in March 1996

[Paternity determination and the analysis of twins--genetic technics give new possibilities]

scientific article published on 01 September 1986

[Preimplantation genetic diagnosis. An alternative to traditional prenatal diagnosis]

scientific article published on 01 August 1997

[QF-PCR or karyotyping in amniocentesis most often not the woman's decision. Difficult to give basis for an informed choice]

scientific article published on 01 September 2007

[The gene of spinal muscular atrophy localized. Possibilities for prenatal diagnosis]

scientific article published on 01 January 1993

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