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List of works by Jan Dumański

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

A 1-Mb PAC contig spanning the common eliminated region 1 (CER1) in microcell hybrid-derived SCID tumors

scientific article published in December 1999

A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors.

scientific article published on 20 June 2017

A case of dermatofibrosarcoma protuberans of the vulva with a COL1A1/PDGFB fusion identical to a case of giant cell fibroblastoma

scientific article published on 01 July 2000

A case of dermatofibrosarcoma protuberans with a ring chromosome 5 and a rearranged chromosome 22 containing amplified COL1A1 and PDGFB sequences

scientific article published on 01 November 1998

A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications

scientific article published in December 2002

A group of schwannomas with interstitial deletions on 22q located outside the NF2 locus shows no detectable mutations in the NF2 gene

scientific article published on 01 May 1999

A high ratio of insulin-like growth factor II/insulin-like growth factor binding protein 2 messenger RNA as a marker for anaplasia in meningiomas.

scientific article published in July 1997

A map of 22 loci on human chromosome 22.

scientific article published in November 1991

A novel gene containing LIM domains (LIMD1) is located within the common eliminated region 1 (C3CER1) in 3p21.3

scientific article

A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients

scientific article published on 01 December 2007

A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene

scientific article published in September 2007

A region close to Tp53 shows LOH in familial breast cancer

scientific article published on 01 April 2002

A segmental maximum a posteriori approach to genome-wide copy number profiling.

scientific article published on 19 January 2008

Abstract 4683: Smoking is associated with mosaic loss of chromosome Y

Age dependence of tumor genetics in unfavorable neuroblastoma: arrayCGH profiles of 34 consecutive cases, using a Swedish 25-year neuroblastoma cohort for validation

scientific article

Age-related somatic structural changes in the nuclear genome of human blood cells

scientific article published on 2 February 2012

Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH.

scientific article published on 18 May 2006

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

scientific article published in November 2001

Array-CGH and multipoint FISH to decode complex chromosomal rearrangements

scientific article

Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia

scientific article published in 2000

Autoantibodies to glutathione S-transferase theta 1 in patients with primary sclerosing cholangitis and other autoimmune diseases

scientific article

Biobanking multifocal breast carcinomas: sample adequacy with regard to histology and DNA content

scientific article published on 12 August 2015

Characterization of a new member of the human beta-adaptin gene family from chromosome 22q12, a candidate meningioma gene

scientific article

Characterization of a second human clathrin heavy chain polypeptide gene (CLH-22) from chromosome 22q11.

scientific article

Characterization of five novel human genes in the 11q13-q22 region

scientific article

Characterization of novel and complex genomic aberrations in glioblastoma using a 32K BAC array

scientific article

Characterization of the MEN1 ortholog in zebrafish

scientific article published in October 1999

Characterization of the human NIPSNAP1 gene from 22q12: a member of a novel gene family

scientific article published in May 1998

Characterization of the human synaptogyrin gene family

scientific article

Characterization of the mouse beta-prime adaptin gene; cDNA sequence, genomic structure, and chromosomal localization

scientific article published on September 1997

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

scientific article published in February 1994

Chromosome 22 array-CGH profiling of breast cancer delimited minimal common regions of genomic imbalances and revealed frequent intra-tumoral genetic heterogeneity

scientific article published in October 2006

Chromosome 22 tiling-path array-CGH analysis identifies germ-line- and tumor-specific aberrations in patients with glioblastoma multiforme

scientific article

Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3

scientific article (publication date: March 1994)

Clonal genomic alterations in glioma malignancy stages.

scientific article published in October 1988

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

Cloning, expression pattern, and chromosomal assignment to 16q23 of the human gamma-adaptin gene (ADTG)

scientific article

Coincidence of synteny breakpoints with malignancy-related deletions on human chromosome 3.

scholarly article

Common pathogenetic mechanism involving human chromosome 18 in familial and sporadic ileal carcinoid tumors

scientific article published on 01 February 2011

Comparative human/murine sequence analysis of the common eliminated region 1 from human 3p21.3.

scientific article published in November 2002

Comprehensive DNA copy number profiling of meningioma using a chromosome 1 tiling path microarray identifies novel candidate tumor suppressor loci

scientific article published on 01 April 2005

Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus

scientific article published on 12 January 2007

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

Copy-number polymorphisms: mining the tip of an iceberg

scientific article

DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targets.

scientific article published in February 2004

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

scientific article

Deletions on chromosome 22 in sporadic meningioma

scientific article published in June 1994

Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma.

scientific article published on January 1997

Detailed assessment of chromosome 22 aberrations in sporadic pheochromocytoma using array-CGH.

scientific article

Detection of copy number changes at the NF1 locus with improved high-resolution array CGH

scientific article published on 01 September 2007

Detection of leukemia-associated mutations in peripheral blood DNA of hematologically normal elderly individuals

scientific article published on 28 January 2015

Development of NF2 gene specific, strictly sequence defined diagnostic microarray for deletion detection.

scientific article

Distal 22q11.2 microduplication encompassing the BCR gene

scientific article published in December 2008

Does chromosome 22 have anything to do with sex determination: further studies on a 46,XX,22q11.2 del male

scientific article published on 01 November 2003

Duplications on human chromosome 22 reveal a novel Ret Finger Protein-like gene family with sense and endogenous antisense transcripts

scientific article

Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome

scientific article

Expression of the ganglioside GD3 in human meningiomas is associated with monosomy of chromosome 22.

scientific article

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

scientific article (publication date: May 2002)

FMIP, a novel Fms-interacting protein, affects granulocyte/macrophage differentiation

scientific journal article

Fine mapping of the constitutional translocation t(11;22)(q23;q11).

scientific article

Focal amplifications are associated with high grade and recurrences in stage Ta bladder carcinoma.

scientific article

Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression

scientific article

Genetic predisposition to mosaic Y chromosome loss in blood is associated with genomic instability in other tissues and susceptibility to non-haematological cancers

Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array

scientific article published on 01 October 2009

Genome-wide microarray-based comparative genomic hybridization analysis of lymphoplasmacytic lymphomas reveals heterogeneous aberrations

scientific article published on 01 September 2009

Genomic microarrays in the spotlight

scientific article published on February 2004

Genomic microarrays in the spotlight.

scientific article published on December 2004

Genomic structure, 5' flanking sequences, and precise localization in 1P31.1 of the human prostaglandin F receptor gene

scientific article

Growth inhibition of dermatofibrosarcoma protuberans tumors by the platelet-derived growth factor receptor antagonist STI571 through induction of apoptosis.

scientific article

High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH

article

High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization.

scientific article published in February 2008

High-resolution array-CGH profiling of germline and tumor-specific copy number alterations on chromosome 22 in patients affected with schwannomas.

scientific article published on 28 October 2005

High-resolution gene copy number and expression profiling of human chromosome 22 in ovarian carcinomas

scientific article published on 01 March 2005

High-resolution profiling of an 11 Mb segment of human chromosome 22 in sporadic schwannoma using array-CGH

scientific article published on 01 March 2003

Identification of a consistent region of allelic loss on 1p32 in meningiomas: correlation with increased morbidity

scientific article published on 01 August 1998

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

scientific article

Identification of limited regions of genetic aberrations in patients affected with Wilms' tumor using a tiling-path chromosome 22 array

Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.

scientific article published on 08 June 2005

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

Immune cells lacking Y chromosome have widespread dysregulation of autosomal genes

scientific article published on 18 June 2019

Immune cells lacking Y chromosome show dysregulation of autosomal gene expression

scientific article published in April 2021

Integrative epigenomic and genomic analysis of malignant pheochromocytoma

scientific article

Isolation and mapping of cosmid markers on human chromosome 22, including one within the submicroscopically deleted region of DiGeorge syndrome

scientific article published on March 1994

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

scientific article

LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.

scientific article published on 6 June 2004

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 a putative low-penetrance ependymoma susceptibility locus to 22q11 using a chromosome 22 tiling-path genomic microarray

scientific article published in August 2005

Loss of Chromosome Y in Leukocytes and Major Cardiovascular Events.

scientific article

Loss of Y and clonal hematopoiesis in blood-two sides of the same coin?

scientific article published in March 2022

Microarray-based survey of CpG islands identifies concurrent hyper- and hypomethylation patterns in tissues derived from patients with breast cancer

scientific article published on 01 July 2006

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

scientific article published on May 1991

Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation.

scientific article

Molecular genetic analysis of chromosome 22 in 81 cases of meningioma

article

Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome

scientific article

Molecular recognition by LARGE is essential for expression of functional dystroglycan

scientific article

Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease

scientific article

Mosaic loss of chromosome Y in leukocytes matters

scientific article published on 01 January 2019

Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer

scientific article

Mosaicism in health and disease - clones picking up speed

scientific article published on 12 December 2016

Mouse cytosolic and mitochondrial deoxyribonucleotidases: cDNA cloning of the mitochondrial enzyme, gene structures, chromosomal mapping and comparison with the human orthologs

scientific journal article

Mpacts of environmental change on sustainable food production in Southwest Ontario, Canada

article

Mutagenesis. Smoking is associated with mosaic loss of chromosome Y.

scientific article

Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia

scientific article (publication date: August 2000)

NF2 tumor suppressor gene: a comprehensive and efficient detection of somatic mutations by denaturing HPLC and microarray-CGH.

scientific article published in January 2003

Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime

scientific article

Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter).

scientific article published in August 2007

Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles

scientific article published on 14 February 2008

Post-zygotic and inter-individual structural genetic variation in a presumptive enhancer element of the locus between the IL10Rβ and IFNAR1 genes

scientific article

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

scientific article published in May 1994

Presymptomatic diagnosis for neurofibromatosis 2 with chromosome 22 markers

scientific article published on 01 September 1993

Procoagulant activity in patients with sickle cell trait

scientific article published in June 2012

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

Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus

scientific article

Psoriasis upregulated phorbolin-1 shares structural but not functional similarity to the mRNA-editing protein apobec-1

scientific article (publication date: August 1999)

Rapid minipreparations of bacteriophage lambda DNA.

scientific article published on September 1988

Recurrent genomic alterations in benign and malignant pheochromocytomas and paragangliomas revealed by whole-genome array comparative genomic hybridization analysis.

scientific article published on 3 June 2010

Regional fine mapping of the beta crystallin genes on chromosome 22 excludes these genes as physically linked markers for neurofibromatosis type 2.

scientific article

Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel

scientific article published on July 1996

Regional localization of the human platelet-derived endothelial cell growth factor (ECGF1) gene to chromosome 22q13

scientific article

Republished: Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime

scientific article

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

scientific article published in June 1996

Severe phenotype of neurofibromatosis type 2 in a patient with a 7.4-MB constitutional deletion on chromosome 22: possible localization of a neurofibromatosis type 2 modifier gene?

scientific article published on 01 June 1999

Signatures of post-zygotic structural genetic aberrations in the cells of histologically normal breast tissue that can predispose to sporadic breast cancer

scientific article

Somatic mosaicism for chromosome X and Y aneuploidies in monozygotic twins heterozygous for sickle cell disease mutation

scientific article published in October 2010

Somatic mosaicism for copy number variation in differentiated human tissues

scientific article published on 01 September 2008

Strong conservation of the human NF2 locus based on sequence comparison in five species.

scientific article

Structural genetic variation in the context of somatic mosaicism

scientific article published on January 2012

Structure and expression of the c-sis gene and its relationship to sporadic meningiomas

scientific article published on August 1991

Structure of the promoter and genomic organization of the human beta'-adaptin gene (BAM22) from chromosome 22q12

scientific article

TOM1 genes map to human chromosome 22q13.1 and mouse chromosome 8C1 and encode proteins similar to the endosomal proteins HGS and STAM

scientific article

The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3

scientific article (publication date: April 2001)

The dermatofibrosarcoma protuberans-associated collagen type Ialpha1/platelet-derived growth factor (PDGF) B-chain fusion gene generates a transforming protein that is processed to functional PDGF-BB.

scientific article published on August 1999

The effects of 2,5-hexanedione on the retina of albino rats

scientific article published on 01 January 1990

The genes for oncostatin M (OSM) and leukemia inhibitory factor (LIF) are tightly linked on human chromosome 22

scientific article

The germinal center kinase gene and a novel CDC25-like gene are located in the vicinity of the PYGM gene on 11q13

scientific article

The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family

scientific article

The human chromosome 22-located genes and malignancies of the central nervous system

scientific article published on October 1996

The mechanism of cystic fibrosis transmembrane conductance regulator transcriptional repression during the unfolded protein response

scientific article published on 04 March 2008

The molecular genetics of meningiomas

scientific article published on September 1990

The mouse ortholog of the human SMARCB1 gene encodes two splice forms

scientific article (publication date: 21 April 1999)

The position of t(11;22)(q23;q11) constitutional translocation breakpoint is conserved among its carriers

scientific article

The transcriptional map of the common eliminated region 1 (C3CER1) in 3p21.3.

scientific article

Tissue-specific variation in DNA methylation levels along human chromosome 1.

scientific article published on 08 June 2009

Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications

scientific article published on 14 December 2020

Various regions within the alpha-helical domain of the COL1A1 gene are fused to the second exon of the PDGFB gene in dermatofibrosarcomas and giant-cell fibroblastomas

scientific article published in October 1998

Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation

scientific article

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