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List of works by Janusz Limon

8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism.

scientific article published on January 2011

A case of mast cell leukaemia with exon 9 KIT mutation and good response to imatinib

scientific article published on 7 April 2011

A case with 47,XXY,del(11)(q23) karotype-coexistence of Jacobsen and Klinefelter syndromes

scientific article

A girl with duplication 9q34 syndrome

scientific article published in September 2007

A novel c.C2754 > T transition in the androgen receptor gene introduces the premature termination codon Q798X and results in a truncated form of the receptor

scientific article published on 01 October 2004

A novel splicing mutation in the SLC9A3R1 gene in tumors from ovarian cancer patients

scientific article

A rare chimeric TLS/FUS-CHOP transcript in a patient with multiple liposarcomas: a case report

scientific article published on 01 June 1999

A second known case of Down syndrome with t(1;18)(q25;q23) in leukemic cells

scientific article published on 01 April 1999

A simple modification to improve the accuracy of methylation-sensitive restriction enzyme quantitative polymerase chain reaction

scientific article published on 04 February 2016

A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene

scientific article published on 08 January 2019

A unique occurrence of a cerebral atypical teratoid/rhabdoid tumor in an infant and a spinal canal primitive neuroectodermal tumor in her father.

scientific article published in February 2003

Aberrations of chromosome 22 and polysomy of chromosome 8 as non-random changes in clear cell sarcoma.

scientific article

Abnormal karyotypes in three carcinomas of the gallbladder

scientific article published on 01 August 1994

Abnormally banded region in a poorly differentiated sarcoma is not correlated with amplification of c-MYC or c-MOS protooncogenes

scientific article published on 01 August 1988

Absence of structural rearrangements of chromosome 11 in human primary malignant melanoma

scientific article published on 01 February 1992

Accumulation of chromosomal changes in human glioma progression. A cytogenetic study of 50 cases

scientific article published in November 1995

Acute lymphoblastic leukemia with a novel t(3;12)(p25;g13)

scientific article published on 01 September 1997

AgNOR staining in benign hyperplasia and carcinoma of the prostate

scientific article published on 01 January 1991

Allogeneic bone marrow transplantation for hypereosinophilic syndrome: long-term follow-up with eradication of FIP1L1-PDGFRA fusion transcript

scientific article published on 03 July 2006

An improved technique for short-term culturing of human prostatic adenocarcinoma tissue for cytogenetic analysis

scientific article published on 01 June 1990

An open label phase II study evaluating first-line EGFR tyrosine kinase inhibitor erlotinib in non-small cell lung cancer patients with tumors showing high EGFR gene copy number

scientific article published on 04 December 2016

Analysis of candidate genes for genotypic diagnosis in the long QT syndrome

scientific article published on 01 January 2004

Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example

scientific article published on 21 May 2015

Angiotensin converting enzyme gene polymorphism is associated with severity of coronary artery disease in men with high total cholesterol levels.

scientific article published on 4 February 2012

Anhidrotic ectodermal dysplasia gene region cloned in yeast artificial chromosomes

scientific article published on May 1993

Antagonizing functions of BARD1 and its alternatively spliced variant BARD1δ in telomere stability.

scientific article published on 21 December 2016

Application of high-resolution genomic profiling in the differential diagnosis of liposarcoma.

scientific article published on 16 March 2017

Application of long-term collagenase disaggregation for the cytogenetic analysis of human solid tumors

scientific article published on 01 December 1986

Array CGH analysis in primary gastrointestinal stromal tumors: Cytogenetic profile correlates with anatomic site and tumor aggressiveness, irrespective of mutational status

scientific article published on 01 March 2007

Association between the Pl(A) platelet glycoprotein GPIIIa polymorphism and extent of coronary artery disease.

scientific article

Association of Genes Related to Oxidative Stress with the Extent of Coronary Atherosclerosis

scientific article published on 18 September 2020

Association of the ScaI atrial natriuretic peptide gene polymorphism with nonfatal myocardial infarction and extent of coronary artery disease

scientific article published on 01 January 2003

BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from northeastern Poland

scientific article

BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland

scientific article published on 01 January 2008

Bayesian multilevel model of micro RNA levels in ovarian-cancer and healthy subjects

scientific article published on 29 August 2019

Beta-2 adrenoreceptor gene polymorphisms and sympathetic outflow in humans.

scientific article

C-344T polymorphism of the aldosterone synthase gene and blood pressure in the elderly: a population-based study

scientific article

COLIA1-PDGFB gene fusion in dermatofibrosarcoma protuberans. molecular analysis of a case with an unusual large marker containing sequences from chromosomes 7, 8, 17, 21, and 22

scientific article published on 01 June 2002

Calretinin and other mesothelioma markers in synovial sarcoma: analysis of antigenic similarities and differences with malignant mesothelioma

scientific article published on 01 May 2001

Cancer predisposing BARD1 mutations affect exon skipping and are associated with overexpression of specific BARD1 isoforms

scientific article published on September 2015

Cancer predisposing BARD1 mutations in breast-ovarian cancer families

Cancer predisposing BARD1 mutations in breast-ovarian cancer families

scientific article published on 23 February 2011

Cell-free DNA BRAF V600E measurements during BRAF inhibitor therapy of metastatic melanoma: long-term analysis

scientific article published on 06 February 2020

Changes in expression of serine proteases HtrA1 and HtrA2 during estrogen-induced oxidative stress and nephrocarcinogenesis in male Syrian hamster

scientific article

Characteristic karyotypic features in lacrimal and salivary gland carcinomas

scientific article

Chondrosarcoma of the small pelvis imitating an ovarian tumor

scientific article published on 01 October 1996

Chromosomal changes in soft-tissue sarcomas. A new diagnostic parameter

scientific article published on 01 November 1987

Chromosome 18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiency

scientific article published on 18 November 2014

Chromosome aberrations, spontaneous SCE, and growth kinetics in PHA-stimulated lymphocytes of five cases with Sézary syndrome

scientific article published on August 1, 1995

Chromosome abnormalities in bilateral breast carcinomas. Cytogenetic evaluation of the clonal origin of multiple primary tumors.

scientific article published on July 1995

Chromosome abnormalities in two benign adipose tumors

scientific article published on 01 May 1986

Chromosome changes associated with spontaneous phenotypic variation of transplantable melanoma

scientific article published on 01 March 1987

Chromosome changes in metastatic human melanoma

scientific article published on 01 February 1988

Clear cell sarcoma of tendons and aponeuroses with t(12;22) (q13;q12) diagnosed initially as malignant melanoma

scientific article published on 01 October 1996

Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18.

scientific article published on July 2001

Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene

scientific article published in January 2008

Clinical impact of molecular and cytogenetic findings in synovial sarcoma

scientific article

Clinical utility of the new American Joint Committee on Cancer staging system for gastrointestinal stromal tumors: current overall survival after primary tumor resection

scientific article

Clonal chromosome aberrations are present in vivo in synovia and osteophytes from patients with osteoarthritis

scientific article published on 01 December 1997

Co-incidence of Turner syndrome and Duchenne muscular dystrophy - an important problem for the clinician

scientific article published in January 2016

Coincidence of PTPN22 c.1858CC and FCRL3 -169CC genotypes as a biomarker of preserved residual β-cell function in children with type 1 diabetes.

scientific article published on 12 September 2016

Comparative study of clinical characteristics of amniotic rupture sequence with and without body wall defect: further evidence for separation.

scientific article published on March 2009

Complex tumor-specific t(X;18) in seven synovial sarcoma tumors

scientific article published on 01 March 2009

Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients

scientific article published on 14 August 2015

Conversion of epidermal growth factor receptor 2 and hormone receptor expression in breast cancer metastases to the brain.

scientific article published on 16 August 2012

Cornelia de Lange syndrome associated with a de-novo novel NIPBL splice-site mutation and a coincidental inherited translocation t(3;5)(p13;q11)

scientific article published on 01 October 2011

Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL

scientific article

Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual

scientific article

Cytofluorimetric measurement of DNA content in the cells of the transplantable melanotic and amelanotic Bomirski melanoma in golden hamster (Mesocricetus auratus, Waterhouse)

scientific article published on 01 January 1978

Cytogenetic Findings in an Embryonal Sarcoma of the Liver

scientific article published on April 15, 1998

Cytogenetic analysis and clinical significance of chromosome 7 aberrations in acute leukaemia

scientific article published on 01 January 2003

Cytogenetic analysis of 57 primary prostatic adenocarcinomas

scientific article published on 01 January 1992

Cytogenetic and immunohistochemical profile of myxoid liposarcoma

scientific article published on 01 January 1995

Cytogenetic and molecular findings in 75 clear cell renal cell carcinomas

scientific article published on 01 May 2005

Cytogenetic and proliferative potentials in meningiomas

scientific article published on 01 January 1999

Cytogenetic findings in a primary adrenocortical carcinoma

scientific article published on 01 June 1987

Cytogenetic findings in a primary leiomyosarcoma of the prostate

scientific article published in June 1986

Cytogenetic findings in malignant peripheral nerve sheath tumors

scientific article published on 01 June 1995

Cytogenetic findings in two synovial sarcomas

scientific article published on 01 April 1989

Cytogenetic studies of adipose tissue tumors. II. Recurrent reciprocal translocation t(12;16)(q13;p11) in myxoid liposarcomas

scientific article published on 01 December 1986

Cytogenetic studies of families with reproductive failure

scientific article

Cytogenetics of astrocytomas.

scientific article published on January 1994

Cytogenetics of hepatoblastoma: further characterization of 1q rearrangements by fluorescence in situ hybridization: an international collaborative study.

scientific article published in March 2000

Cytogenetics of synovial sarcoma: presentation of ten new cases and review of the literature

scientific article

Cytogenetics of uterine sarcomas: presentation of eight new cases and review of the literature

scientific article published on 01 November 1998

Demonstration of two different regions of lateral asymmetry in human Y chromosomes

scientific article published on October 2, 1979

Detection of BRCA1/2 mutations in circulating tumor DNA from patients with ovarian cancer.

scientific article published on 8 September 2017

Detection of somatic BRCA1/2 mutations in ovarian cancer - next-generation sequencing analysis of 100 cases

scientific article published on 11 May 2016

Detection of the SYT-SSX fusion transcripts in formaldehyde-fixed, paraffin-embedded tissue: a reverse transcription polymerase chain reaction amplification assay useful in the diagnosis of synovial sarcoma

scientific article published on July 1, 1998

Diagnosis of Klinefelter syndrome in the donor after peripheral blood stem cell transplantation

scientific article published on 01 February 2000

Diagnosis of Mastocytosis in Children and Adults in Daily Clinical Practice

scientific article

Different factors are responsible for predicting relapses after primary tumors resection and for imatinib treatment outcomes in gastrointestinal stromal tumors

scientific article published in November 2007

Double minutes in two primary adenocarcinomas of the prostate

scientific article published on 01 June 1989

Dwarfism in art.

scientific article published on January 2015

EGFR, PIK3CA and PTEN gene status and their protein product expression in neuroblastic tumours.

scientific article

Efficacy of clinical diagnostic criteria for familial hypercholesterolemia genetic testing in Poland

article

Epidemiology of isolated preaxial polydactyly type I: data from the Polish Registry of Congenital Malformations (PRCM).

scientific article

Erratum to: Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.

scientific article published on 9 February 2013

Evidence for close relationship between karyotypes of higher hominoids

scientific article published on 01 July 1979

Evidence of somatic mutations in osteoarthritis

scientific article published on 01 December 1996

Expression and significance of HER family receptors in neuroblastic tumors

scientific article published on 4 January 2011

Expression of the c-erbB2 proto-oncogene in male breast carcinoma: lack of prognostic significance

scientific article published on 01 November 1993

Fine mapping of the EDA gene: a translocation breakpoint is associated with a CpG island that is transcribed

scientific article

Folate/homocysteine metabolism and lung cancer risk among smokers

Founder BRCA1 mutations and two novel germline BRCA2 mutations in breast and/or ovarian cancer families from North-Eastern Poland

scientific article published on 01 May 2000

Gastrointestinal stromal tumors. A multicenter experience

scientific article published on 01 January 2005

Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome

scientific article published on 14 September 2016

Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study)

scientific article published on 13 December 2005

Germline NBS1 mutations in families with aggregation of Breast and/or ovarian cancer from north-east Poland

scientific article published on 01 July 2007

Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene

scientific article

HER2 Amplification Has no Prognostic Value in Sporadic and Hereditary Ovarian Tumours

scientific article

High Resolution Melting analysis as a rapid and efficient method of screening for small mutations in the STK11 gene in patients with Peutz-Jeghers syndrome.

scientific article

High frequency of BRCA1/2 germline mutations in consecutive ovarian cancer patients in Poland

scientific article published on 07 November 2007

High frequency of telomeric associations and chromatid exchanges and breaks in human ovarian carcinoma

scientific article published on January 1, 1992

Improved detection of KIT exon 11 duplications in formalin-fixed, paraffin-embedded gastrointestinal stromal tumors

scientific article published on February 2007

Improved technique for short-term culture and cytogenetic analysis of human breast cancer

scientific article published on 01 July 1992

Increased risk of non-small cell lung cancer and frequency of somatic TP53 gene mutations in Pro72 carriers of TP53 Arg72Pro polymorphism

scientific article published on 24 February 2006

Influence of Cytochrome P450, ABC and SLC Gene Polymorphisms on Imatinib Therapy Outcome of Patients with Gastrointestinal Stromal Tumours (GIST).

scientific article published in January 2017

Influence of diethylenetriamine (DETA) and sodium nitroprusside (NaNP) on sister chromatid exchange frequency and cell kinetics in cultured human lymphocytes

scientific article published on January 1, 2001

Interstitial deletion of the short arm of chromosome 3 as a primary chromosome abnormality in carcinomas of the breast

scientific article published on 01 March 1993

Involvement of chromosome X in primary cytogenetic change in human neoplasia: nonrandom translocation in synovial sarcoma

scientific article

Involvement of chromosomes 3 and 5 in renal cell carcinoma

scientific article published on 01 October 1988

Isolabeling of the long arm of the human Y chromosome demonstrated by the FPG technique

scientific article published on October 1978

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

scientific article

Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.

scientific article published on 16 February 2012

JAK2 and MPL gene mutations in V617F-negative myeloproliferative neoplasms.

scientific article

Karyotypic characterization of 64 nonmalignant thyroid goiters

scientific article published on 01 September 2005

Klinefelter syndrome and neoplasia presentation of three new cases

scientific article

Left ventricular size, mass and function in relation to angiotensin-converting enzyme gene and angiotensin-II type 1 receptor gene polymorphisms in patients with coronary artery disease.

scientific article published in April 2003

Limited significance of family history for presence of BRCA1 gene mutation in Polish breast and ovarian cancer cases

scientific article

Loss of genetic material within 1p and 19q chromosomal arms in low grade gliomas of central nervous system

scientific article

Loss of heterozygosity at BRCA1/2 loci in hereditary and sporadic ovarian cancers

scientific article published on 01 January 2009

Loss of heterozygosity at chromosomes 3p and 17p in primary non-small cell lung cancer

scientific article published on 01 November 2004

Loss of heterozygosity in 73 human thyroid tumors.

scientific article

Loss of heterozygosity on chromosome 22q in gastrointestinal stromal tumors (GISTs): a study on 50 cases.

scientific article published in February 2005

Management of familial heterozygous hypercholesterolemia. Position paper of the Polish Lipid Expert Forum

scientific article published on 01 January 2013

Management of familial heterozygous hypercholesterolemia. Position paper of the Polish Lipid Expert Forum

scientific article published on 18 February 2013

Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum

scientific article published on 4 February 2013

Management of familial hypercholesterolemia in children and adolescents. Position paper of the Polish Lipid Expert Forum

scientific article published on 18 January 2014

Maternal reproductive history and the risk of isolated congenital malformations.

scientific article published on 12 January 2011

Mechanisms of chromosome banding. XI. The ability of various acridine derivatives to cause Q-banding

scientific article published on December 1, 1978

Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor

scientific article published on 01 August 2005

Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor

scientific article

Mild phenotype of a large partial 13q trisomy

scientific article published on 01 October 2014

Mitochondrial DNA levels in Huntington disease leukocytes and dermal fibroblasts

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 Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations

scientific article published on 01 January 2010

Molecular genetic characterization of the EWS/ATF1 fusion gene in clear cell sarcoma of tendons and aponeuroses

scientific article published on 01 June 2002

Monitoring the Effects of Hypolipidemic Treatment in Children with Familial Hypercholesterolemia in Poland

scientific article published on 04 November 2020

Mutation in the regulatory region of the EDA gene coincides with the symptoms of anhidrotic ectodermal dysplasia

scientific article published on 01 January 1998

Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population

scientific article published on 05 May 2013

Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing

scientific article published on November 2014

Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome

scientific article

Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia

scientific article published on 01 May 2001

Mutations spectrum in hereditary disorders predisposing to occurrence of intestine polyposis in Poland.

scientific article

NADPH Oxidase Gene Polymorphism is Associated with Mortality and Cardiovascular Events in 7-Year Follow-Up

scientific article published on 14 May 2020

Non-isotopic procedure with silver staining of polyacrylamide gels in detection of genomic abnormalities in tumors using microsatellites

scientific article published on January 1995

Noninvasive assessment of endothelial function and vascular parameters in patients with familial and nonfamilial hypercholesterolemia

scientific article published on 03 September 2014

Nonrandom chromosomal aberrations and cytogenetic heterogeneity in gallbladder carcinomas.

scientific article published in December 1999

Nonrandom secondary chromosome-aberrations in synovial sarcomas with t(x-18)

scientific article published on 01 September 1995

Novel BRCA2 mutation in a Polish family with hamartoma and two male breast cancers

scientific article published in July 2002

Novel RB1 gene constitutional mutations found in Polish patients with familial and/or bilateral retinoblastoma

scientific article published on 01 November 2001

Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis

scientific article published on 27 May 2011

Olanzapine-induced weight gain is associated with the -759C/T and -697G/C polymorphisms of the HTR2C gene.

scientific article published on 12 May 2009

On the significance of germline cytogenetic rearrangements at MYCN locus in neuroblastoma

scientific article published on 16 October 2013

On the significance of trisomy 7 and sex chromosome loss in renal cell carcinoma

scientific article published on 01 October 1990

Parachordoma--a clinicopathologic, immunohistochemical, electron microscopic, flow cytometric, and cytogenetic study

scientific article

Parachordoma: A Rare Sarcoma with Clonal Chromosomal Changes

scientific article published on April 1, 1998

Parental age as a risk factor for isolated congenital malformations in a Polish population.

scientific article published on January 2009

Partial trisomy of distal 5q and partial monosomy of Xp as a result of mating between two translocation carriers: a female with a balanced translocation t(X;5)(p11;q31) and a male with a der(13;14)(q10;q10)—a case report and a family study

scientific article published on 01 July 2002

Patterns of keratin polypeptides in 110 biphasic, monophasic, and poorly differentiated synovial sarcomas

scientific article published on 01 September 2000

Periventricular heterotopia in a boy with interstitial deletion of chromosome 4p.

scientific article published on 23 December 2007

Polymorphisms of the histamine receptor (H1HR) gene are not associated with olanzapine-induced weight gain

scientific article published in June 2013

Popliteal cyst

scientific article published on 01 April 1977

Predictive factors for long-term effects of imatinib therapy in patients with inoperable/metastatic CD117(+) gastrointestinal stromal tumors (GISTs)

scientific article published on 26 April 2007

Prevalence and clinical correlations of BRCA1/BRCA2 unclassified variant carriers among unselected primary ovarian cancer cases - preliminary report

scientific article published on 01 January 2005

Prevalence of the BLM nonsense mutation, p.Q548X, in ovarian cancer patients from Central and Eastern Europe

scientific article published in March 2015

Prevalence of the most frequent BRCA1 mutations in Polish population

scientific article

Primary intrathoracic biphasic synovial sarcoma--a case report

scientific article published on 01 January 2005

Primary leiomyosarcoma of the mesentery in two sisters: clinical and molecular characteristics

scientific article published in April 2013

Prognostic implications of cytogenetic findings in kidney cancer

scientific article published on 01 November 1997

Prognostic value of KIT/PDGFRA mutations in gastrointestinal stromal tumours (GIST): Polish Clinical GIST Registry experience

scientific article published on 28 April 2011

Proliferation index revisited in neuroblastic tumors

scientific article published on 01 January 2014

Rare cancers

scientific article published on 04 June 2014

Rearrangement of the neoplasia-associated gene HMGIC in synovia from patients with osteoarthritis

scientific article published in March 1999

Rearrangement of the neoplasia-associated geneHMGIC in synovia from patients with osteoarthritis

article

Recurrent chromosome changes in two adult fibrosarcomas

scientific article published on February 1, 1998

Recurrent chromosome translocations in liposarcoma

Regeneration of comparative genomic hybridization oligonucleotide microarrays with dimethylurea

scientific article published on 13 April 2012

Retrospective analysis of prognostic significance of the estrogen-inducible pS2 gene in male breast carcinoma

scientific article published on September 1993

Ring marker containing 17q and chromosome 22 in a case of dermatofibrosarcoma protuberans

scientific article published on 01 July 1996

Risk Criteria and Prognostic Factors for Predicting Recurrences After Resection of Primary Gastrointestinal Stromal Tumor

scientific article published on 02 May 2007

Root morphology of mandibular premolars in 40 patients with Turner syndrome.

scientific article published in November 2005

Routine brush cytology and fluorescence in situ hybridization for assessment of pancreatobiliary strictures

scientific article published on November 10, 2011

Sarcomatoid carcinoma (carcinosarcoma) of the gallbladder

scientific article published on 01 April 1998

Ser9Gly polymorphism of the DRD3 gene is associated with worse premorbid social functioning and an earlier age of onset in female but not male schizophrenic patients

scientific article published on 23 March 2010

Sertoli cell tumor in androgen insensitivity syndrome--a case report.

scientific article

Significance of chromosomal abnormalities in solid tumors of humans

scientific article published in January 1994

Spectral karyotyping reveals 17;22 fusions in a cytogenetically atypical dermatofibrosarcoma protuberans with a large marker chromosome as a sole abnormality

scientific article published on June 2001

Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients

article

Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome

scientific article published on 20 December 2012

Stanowisko dotyczące postępowania w rodzinnej hipercholesterolemii u dzieci i młodzieży. Stanowisko Forum Ekspertów Lipidowych

scientific article published in November 2013

Studies on the structure-fluorescence relationships of chromatin-bound 9-amino acridine derivatives

scientific article published on May 1, 1975

Synergy between the alteration in the N-terminal region of butyrylcholinesterase K variant and apolipoprotein E4 in late-onset Alzheimer's disease

scientific article published on 26 March 2019

The Outcome of Targeted Therapy in Advanced Gastrointestinal Stromal Tumors (Gist) with Non-Exon 11 Kit Mutations

scientific article published on 01 July 2014

The algorithm for Alzheimer risk assessment based on APOE promoter polymorphisms.

scientific article published on 19 May 2016

The angiotensinogen AGT p.M235T gene polymorphism may be responsible for the development of severe anaphylactic reactions to insect venom allergens.

scientific article published on 22 April 2010

The efficacy of EGFR gene mutation testing in various samples from non-small cell lung cancer patients: a multicenter retrospective study

scientific article

The frequency of occurrence of abnormal frenal attachment of lips and enamel defects in Turner syndrome

scientific article published in March 2008

The hem of the embryonic cerebral cortex is defined by the expression of multiple Wnt genes and is compromised in Gli3-deficient mice

scientific article published on June 1, 1998

The induction of sister-chromatid exchanges by 9-aminoacridine derivatives. I. The relation between the yield of SCE induction and cell kinetics in cultured human lymphocytes

scientific article published on May 1979

The magic human 46 chromosomes were immortalised on a bronze plaque at Lund University in Sweden.

scientific article

The occurrence of cerebellar hemangioblastoma in numerous first degree relatives with von Hippel-Lindau disease

scientific article published on 01 January 1999

The outcome and predictive factors of sunitinib therapy in advanced gastrointestinal stromal tumors (GIST) after imatinib failure - one institution study

scientific article

The use of 3-bromo-7-methoxy-9 (4-dimethyloaminobutylamino)--acridine-2HC1 (preparation C-15) for fluorescence analysis of human metaphasal chromosomes

Thyroid cancer in two siblings with FAP syndrome and APC mutation

scientific article published on 31 July 2007

Transcriptomic Effects of Estrogen Starvation and Induction in the MCF7 Cells. The Meta-analysis of Microarray Results

scientific article published on 29 October 2015

Translocation (13;22) in a hemangiopericytoma

scientific article published on 01 April 1986

Translocation (45,XY,t/13q;14q) in a child with congenital hypertrophic pyloric stenosis

scientific article published on 01 November 1981

Translocation (6;16) in a case of granulosa cell tumor of the ovary

scientific article published on 01 May 1992

Translocation (X;1)(p11.2;q21) in a papillary renal cell carcinoma in a 14-year-old girl.

scientific article published in March 1998

Translocation X;18 in synovial sarcoma

scientific article published on 01 September 1986

Translocation t(4;11)(q35;p13) in an adrenocortical carcinoma

scientific article published on 01 October 1987

Translocations involving the X chromosome in solid tumors: presentation of two sarcomas with t(X;18)(q13;p11)

scientific article published on 01 September 1986

Translocations t(X;7) and t(7; 14) in a synovial sarcoma

scientific article published on 01 January 1991

Trisomy 12 and 4 in a thecoma of the ovary

scientific article published on 01 April 1992

Trisomy 13 in a case of myelodysplastic syndrome

scientific article published in February 1989

Trisomy 7, trisomy 10, and loss of the Y chromosome in short-term cultures of normal kidney tissue

scientific article published in January 1990

Trisomy of chromosome 12 in a case of thecoma of the ovary

scientific article published on 01 March 1990

Tumor genotype is an independent prognostic factor in primary gastrointestinal stromal tumors of gastric origin: a european multicenter analysis based on ConticaGIST.

scientific article published on 7 October 2014

Two mosaic cases with nonfluorescent Y chromosome analysed with Y-specific DNA probes

scientific article published on 01 November 1988

Unusual SCD in cancer cells: a phenomenon related to decreased BrdU incorporation?

scientific article published in August 1983

Unusual chemosensitivity of advanced bronchioalveolar carcinoma after gefitinib response and progression: a case report

scientific article published on 01 January 2007

Usefulness of cytogenetic analysis in the diagnosis of undifferentiated synovial sarcoma of the chest wall. A case report

scientific article published on 01 January 1995

What are the current outcomes of advanced gastrointestinal stromal tumors: who are the long-term survivors treated initially with imatinib?

scientific article

When do paediatric patients with familial hypercholesterolemia need statin therapy?

scientific article

X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female

scientific article published on 01 July 1991

[Analysis of prognostic value of TP53 gene mutations in non-small cell lung cancer]

scientific article published on 01 January 2005

[Analysis of the indications for and the results of the cytogenetic tests in 826 patients with suspected chromosome aberrations]

scientific article published on 01 September 1988

[Clinical significance of cytogenetic examinations in squamous cell carcinomas of the head and neck]

scientific article published on 01 January 2000

[Controlled trial of amitriptyline in a group of patients with so-called functional pseudorheumatic pain]

scientific article published on 01 November 1985

[Familial uveitis and ankylosing spondylarthritis]

scientific article published on 01 April 1978

[Fluorescence analysis of 46, XYq plus karyotype in a case of testicular feminization syndrome]

scientific article published on 01 January 1974

[Management in familial hypercholesterolaemia in children and adolescents. Position of the Lipid Expert Forum]

scientific article published on 01 January 2013

[Management of familial heterozygous hypercholesterolaemia. Position paper of the Polish Lipid Expert Forum]

scientific article published on 01 January 2013

[Specific chromosome aberrations in human soft-tissue tumors and their diagnostic significance]

scientific article published on 01 September 1995

[The correlation between clinical and histological features and complexity of chromosomal changes in primary ovarian cancer]

scientific article published on 01 August 1999

[The role of cytogenetic studies in prognosis of treatment results in patients with ovarian cancer]

scientific article published on 01 August 1999

[Treatment of essential thrombocythemia--personal experience]

scientific article published on 01 March 2000

[Trisomy 21 associated with XYY karyotype]

scientific article published on 01 May 1980

[Usefulness of new acridine derivatives in cytogenetics]

article published in 1973

beta-2-adrenergic receptor gene polymorphism confers susceptibility to Graves disease.

scientific article published on January 2007

c.1810C>T polymorphism of NTRK1 gene is associated with reduced survival in neuroblastoma patients

scientific article