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Jan Dumanski

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Anatomy

Chromosomes, Human, Pair 22

Concepts & Ideas

Procedures

Devices

Oligonucleotide Array Sequence Analysis

Disorders

Genes & Molecular Sequences

Chemicals & Drugs

Phenomena

Nucleic Acid Hybridization

Living Beings

Mice

Physiology

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Publications

TOP 3
Mantripragada Kiran K; de Ståhl Teresita Díaz; Patridge Chris; Menzel Uwe; Andersson Robin; Chuzhanova Nadia; Kluwe Lan; Guha Abhijit; Mautner Victor; Dumanski Jan P; Upadhyaya Meena
Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array.
Descartes Maria; Franklin Judy; de Ståhl Teresita Diaz; Piotrowski Arkadiusz; Bruder Carl E G; Dumanski Jan P; Carroll Andrew J; Mikhail Fady M
Distal 22q11.2 microduplication encompassing the BCR gene.
Piotrowski Arkadiusz; Bruder Carl E G; Andersson Robin; de Ståhl Teresita Diaz; Menzel Uwe; Sandgren Johanna; Poplawski Andrzej; von Tell Desiree; Crasto Chiquito; Bogdan Adam; Bartoszewski Rafal; Bebok Zsuzsa; Krzyzanowski Maciej; Jankowski Zbigniew; Partridge E Christopher; Komorowski Jan; Dumanski Jan P
Somatic mosaicism for copy number variation in differentiated human tissues.

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All Publications

2009: Mantripragada Kiran K; de Ståhl Teresita Díaz; Patridge Chris; Menzel Uwe; Andersson Robin; Chuzhanova Nadia; Kluwe Lan; Guha Abhijit; Mautner Victor; Dumanski Jan P; Upadhyaya Meena
Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array.
Genes, chromosomes & cancer 2009;48(10):897-907.
2008: Descartes Maria; Franklin Judy; de Ståhl Teresita Diaz; Piotrowski Arkadiusz; Bruder Carl E G; Dumanski Jan P; Carroll Andrew J; Mikhail Fady M
Distal 22q11.2 microduplication encompassing the BCR gene.
American journal of medical genetics. Part A 2008;146A(23):3075-81.
2008: Piotrowski Arkadiusz; Bruder Carl E G; Andersson Robin; de Ståhl Teresita Diaz; Menzel Uwe; Sandgren Johanna; Poplawski Andrzej; von Tell Desiree; Crasto Chiquito; Bogdan Adam; Bartoszewski Rafal; Bebok Zsuzsa; Krzyzanowski Maciej; Jankowski Zbigniew; Partridge E Christopher; Komorowski Jan; Dumanski Jan P
Somatic mosaicism for copy number variation in differentiated human tissues.
Human mutation 2008;29(9):1118-24.
2008: Ardesjö Brita; Hansson Caisa M; Bruder Carl E G; Rorsman Fredrik; Betterle Corrado; Dumanski Jan P; Kämpe Olle; Ekwall Olov
Autoantibodies to glutathione S-transferase theta 1 in patients with primary sclerosing cholangitis and other autoimmune diseases.
Journal of autoimmunity 2008;30(4):273-82.
2008: Bartoszewski Rafal; Rab András; Twitty George; Stevenson Lauren; Fortenberry James; Piotrowski Arkadiusz; Dumanski Jan P; Bebok Zsuzsa
The mechanism of cystic fibrosis transmembrane conductance regulator transcriptional repression during the unfolded protein response.
The Journal of biological chemistry 2008;283(18):12154-65.
2008: Bruder Carl E G; Piotrowski Arkadiusz; Gijsbers Antoinet A C J; Andersson Robin; Erickson Stephen; de Ståhl Teresita Diaz; Menzel Uwe; Sandgren Johanna; von Tell Desiree; Poplawski Andrzej; Crowley Michael; Crasto Chiquito; Partridge E Christopher; Tiwari Hemant; Allison David B; Komorowski Jan; van Ommen Gert-Jan B; Boomsma Dorret I; Pedersen Nancy L; den Dunnen Johan T; Wirdefeldt Karin; Dumanski Jan P
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles.
American journal of human genetics 2008;82(3):763-71.
2008: Andersson Robin; Bruder Carl E G; Piotrowski Arkadiusz; Menzel Uwe; Nord Helena; Sandgren Johanna; Hvidsten Torgeir R; Diaz de Ståhl Teresita; Dumanski Jan P; Komorowski Jan
A segmental maximum a posteriori approach to genome-wide copy number profiling.
Bioinformatics (Oxford, England) 2008;24(6):751-8.
2008: de Ståhl Teresita Díaz; Sandgren Johanna; Piotrowski Arkadiusz; Nord Helena; Andersson Robin; Menzel Uwe; Bogdan Adam; Thuresson Ann-Charlotte; Poplawski Andrzej; von Tell Desiree; Hansson Caisa M; Elshafie Amir I; Elghazali Gehad; Imreh Stephan; Nordenskjöld Magnus; Upadhyaya Meena; Komorowski Jan; Bruder Carl E G; Dumanski Jan P
Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array.
Human mutation 2008;29(3):398-408.
2008: Mantripragada Kiran K; Spurlock Gillian; Kluwe Lan; Chuzhanova Nadia; Ferner Rosalie E; Frayling Ian M; Dumanski Jan P; Guha Abhijit; Mautner Victor; Upadhyaya Meena
High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization.
Clinical cancer research : an official journal of the American Association for Cancer Research 2008;14(4):1015-24.
2007: Erickson Robert P; de Ståhl Teresita Díaz; Bruder Carl E G; Dumanski Jan P
A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients.
American journal of medical genetics. Part A 2007;143A(24):3302-8.
2007: Shen M H; Mantripragada K; Dumanski J P; Frayling I; Upadhyaya M
Detection of copy number changes at the NF1 locus with improved high-resolution array CGH.
Clinical genetics 2007;72(3):238-44.
2007: Mikhail Fady M; Descartes Maria; Piotrowski Arkadiusz; Andersson Robin; de Ståhl Teresita Diaz; Komorowski Jan; Bruder Carl E G; Dumanski Jan P; Carroll Andrew J
A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene.
American journal of medical genetics. Part A 2007;143A(18):2178-84.
2007: Mikhail Fady M; Sathienkijkanchai Achara; Robin Nathaniel H; Prucka Sandra; Biggerstaff Julie Sanford; Komorowski Jan; Andersson Robin; Bruder Carl E G; Piotrowski Arkadiusz; de Ståhl Teresita Diaz; Dumanski Jan P; Carroll Andrew J
Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter).
American journal of medical genetics. Part A 2007;143A(15):1760-6.
2007: Thuresson A-C; Bondeson M-L; Edeby C; Ellis P; Langford C; Dumanski J P; Annerén G
Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation.
Cytogenetic and genome research 2007;118(1):1-7.
2007: Hansson Caisa M; Buckley Patrick G; Grigelioniene Giedre; Piotrowski Arkadiusz; Hellström Anders R; Mantripragada Kiran; Jarbo Caroline; Mathiesen Tiit; Dumanski Jan P
Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus.
BMC genomics 2007;8():16.
2006: Benetkiewicz Magdalena; Piotrowski Arkadiusz; Díaz De Ståhl Teresita; Jankowski Michal; Bala Dariusz; Hoffman Jacek; Srutek Ewa; Laskowski Ryszard; Zegarski Wojciech; Dumanski Jan P
Chromosome 22 array-CGH profiling of breast cancer delimited minimal common regions of genomic imbalances and revealed frequent intra-tumoral genetic heterogeneity.
International journal of oncology 2006;29(4):935-45.
2006: de Bustos Cecilia; Díaz de Ståhl Teresita; Piotrowski Arkadiusz; Mantripragada Kiran K; Buckley Patrick G; Darai Eva; Hansson Caisa M; Grigelionis Gintautas; Menzel Uwe; Dumanski Jan P
Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH.
Genomics 2006;88(2):152-62.
2006: Benetkiewicz Magdalena; de Ståhl Teresita Díaz; Gördör Anita; Pfeifer Susan; Wittmann Stefanie; Gessler Manfred; Dumanski Jan P
Identification of limited regions of genetic aberrations in patients affected with Wilms' tumor using a tiling-path chromosome 22 array.
International journal of cancer. Journal international du cancer 2006;119(3):571-8.
2006: Piotrowski Arkadiusz; Benetkiewicz Magdalena; Menzel Uwe; de Ståhl Teresita Díaz; Mantripragada Kiran; Grigelionis Gintautas; Buckley Patrick G; Jankowski Michal; Hoffman Jacek; Bala Dariusz; Srutek Ewa; Laskowski Ryszard; Zegarski Wojciech; Dumanski Jan P
Microarray-based survey of CpG islands identifies concurrent hyper- and hypomethylation patterns in tissues derived from patients with breast cancer.
Genes, chromosomes & cancer 2006;45(7):656-67.
2006: Jarbo Caroline; Buckley Patrick G; Piotrowski Arkadiusz; Mantripragada Kiran K; Benetkiewicz Magdalena; Diaz de Ståhl Teresita; Langford Cordelia F; Gregory Simon G; Dralle Henning; Gimm Oliver; Bäckdahl Martin; Geli Janos; Larsson Catharina; Westin Gunnar; Akerström Göran; Dumanski Jan P
Detailed assessment of chromosome 22 aberrations in sporadic pheochromocytoma using array-CGH.
International journal of cancer. Journal international du cancer 2006;118(5):1159-64.
2006: Mantripragada K K; Thuresson A-C; Piotrowski A; Díaz de Ståhl T; Menzel U; Grigelionis G; Ferner R E; Griffiths S; Bolund L; Mautner V; Nordling M; Legius E; Vetrie D; Dahl N; Messiaen L; Upadhyaya M; Bruder C E G; Dumanski J P
Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.
Journal of medical genetics 2006;43(1):28-38.
2006: Darai-Ramqvist Eva; de Ståhl Teresita Diaz; Sandlund Agneta; Mantripragada Kiran; Klein George; Dumanski Jan; Imreh Stefan; Kost-Alimova Maria
Array-CGH and multipoint FISH to decode complex chromosomal rearrangements.
BMC genomics 2006;7():330.
2005: Buckley Patrick G; Mantripragada Kiran K; Díaz de Ståhl Teresita; Piotrowski Arkadiusz; Hansson Caisa M; Kiss Hajnalka; Vetrie David; Ernberg Ingemar T; Nordenskjöld Magnus; Bolund Lars; Sainio Markku; Rouleau Guy A; Niimura Michihito; Wallace Andrew J; Evans D Gareth R; Grigelionis Gintautas; Menzel Uwe; Dumanski Jan P
Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2.
Human mutation 2005;26(6):540-9.
2005: Díaz de Ståhl Teresita; Hansson Caisa M; de Bustos Cecilia; Mantripragada Kiran K; Piotrowski Arkadiusz; Benetkiewicz Magdalena; Jarbo Caroline; Wiklund Leif; Mathiesen Tiit; Nyberg Gunnar; Collins V Peter; Evans D Gareth; Ichimura Koichi; Dumanski Jan P
High-resolution array-CGH profiling of germline and tumor-specific copy number alterations on chromosome 22 in patients affected with schwannomas.
Human genetics 2005;118(1):35-44.
2005: de Ståhl Teresita Díaz; Hartmann Christian; de Bustos Cecilia; Piotrowski Arkadiusz; Benetkiewicz Magdalena; Mantripragada Kiran K; Tykwinski Tomasz; von Deimling Andreas; Dumanski Jan P
Chromosome 22 tiling-path array-CGH analysis identifies germ-line- and tumor-specific aberrations in patients with glioblastoma multiforme.
Genes, chromosomes & cancer 2005;44(2):161-9.
2005: Ammerlaan Anneke C J; de Bustos Cecilia; Ararou Abdelhay; Buckley Patrick G; Mantripragada Kiran K; Verstegen Marco J; Hulsebos Theo J M; Dumanski Jan P
Localization of a putative low-penetrance ependymoma susceptibility locus to 22q11 using a chromosome 22 tiling-path genomic microarray.
Genes, chromosomes & cancer 2005;43(4):329-38.
2005: Buckley Patrick G; Mantripragada Kiran K; Piotrowski Arkadiusz; Diaz de Ståhl Teresita; Dumanski Jan P
Copy-number polymorphisms: mining the tip of an iceberg.
Trends in genetics : TIG 2005;21(6):315-7.
2005: Dhami Pawandeep; Coffey Alison J; Abbs Stephen; Vermeesch Joris R; Dumanski Jan P; Woodward Karen J; Andrews Robert M; Langford Cordelia; Vetrie David
Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome.
American journal of human genetics 2005;76(5):750-62.
2005: Buckley Patrick G; Jarbo Caroline; Menzel Uwe; Mathiesen Tiit; Scott Carol; Gregory Simon G; Langford Cordelia F; Dumanski Jan P
Comprehensive DNA copy number profiling of meningioma using a chromosome 1 tiling path microarray identifies novel candidate tumor suppressor loci.
Cancer research 2005;65(7):2653-61.
2005: Benetkiewicz Magdalena; Wang Yun; Schaner Marci; Wang Pei; Mantripragada Kiran K; Buckley Patrick G; Kristensen Gunnar; Børresen-Dale Anne-Lise; Dumanski Jan P
High-resolution gene copy number and expression profiling of human chromosome 22 in ovarian carcinomas.
Genes, chromosomes & cancer 2005;42(3):228-37.
2004: Barresi Rita; Michele Daniel E; Kanagawa Motoi; Harper Hollie A; Dovico Sherri A; Satz Jakob S; Moore Steven A; Zhang Wenli; Schachter Harry; Dumanski Jan P; Cohn Ronald D; Nishino Ichizo; Campbell Kevin P
LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.
Nature medicine 2004;10(7):696-703.
2004: Kanagawa Motoi; Saito Fumiaki; Kunz Stefan; Yoshida-Moriguchi Takako; Barresi Rita; Kobayashi Yvonne M; Muschler John; Dumanski Jan P; Michele Daniel E; Oldstone Michael B A; Campbell Kevin P
Molecular recognition by LARGE is essential for expression of functional dystroglycan.
Cell 2004;117(7):953-64.
2004: Mantripragada Kiran K; Buckley Patrick G; de Ståhl Teresita Diaz; Dumanski Jan P
Genomic microarrays in the spotlight.
Trends in genetics : TIG 2004;20(2):87-94.
2004: Mantripragada Kiran Kumar; Tapia-Páez Isabel; Blennow Elisabeth; Nilsson Peter; Wedell Anna; Dumanski Jan P
DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targets.
International journal of molecular medicine 2004;13(2):273-9.
2003: Erickson Robert P; Skinner Steve; Jacquet Hélène; Campion Dominique; Buckley Patrick G; Mantripragada Kiran K; Dumanski Jan P
Does chromosome 22 have anything to do with sex determination: further studies on a 46,XX,22q11.2 del male.
American journal of medical genetics. Part A 2003;123A(1):64-7.
2003: Hansson Caisa M; Ali Haider; Bruder Carl E G; Fransson Ingegerd; Kluge Sindy; Andersson Björn; Roe Bruce A; Menzel Uwe; Dumanski Jan P
Strong conservation of the human NF2 locus based on sequence comparison in five species.
Mammalian genome : official journal of the International Mammalian Genome Society 2003;14(8):526-36.
2003: Mantripragada Kiran K; Buckley Patrick G; Jarbo Caroline; Menzel Uwe; Dumanski Jan P
Development of NF2 gene specific, strictly sequence defined diagnostic microarray for deletion detection.
Journal of molecular medicine (Berlin, Germany) 2003;81(7):443-51.
2003: Kost-Alimova Maria; Kiss Hajnalka; Fedorova Ludmila; Yang Ying; Dumanski Jan P; Klein George; Imreh Stefan
Coincidence of synteny breakpoints with malignancy-related deletions on human chromosome 3.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(11):6622-7.
2003: Mantripragada Kiran K; Buckley Patrick G; Benetkiewicz Magdalena; De Bustos Cecilia; Hirvelä Carina; Jarbo Caroline; Bruder Carl E G; Wensman Helena; Mathiesen Tiit; Nyberg Gunnar; Papi Laura; Collins V Peter; Ichimura Koichi; Evans Gareth; Dumanski Jan P
High-resolution profiling of an 11 Mb segment of human chromosome 22 in sporadic schwannoma using array-CGH.
International journal of oncology 2003;22(3):615-22.
2003: Szijan Irene; Rochefort Daniel; Bruder Carl; Surace Ezequiel; Machiavelli Gloria; Dalamon Viviana; Cotignola Javier; Ferreiro Veronica; Campero Alvaro; Basso Armando; Dumanski Jan P; Rouleau Guy A
NF2 tumor suppressor gene: a comprehensive and efficient detection of somatic mutations by denaturing HPLC and microarray-CGH.
Neuromolecular medicine 2003;3(1):41-52.
2002: Kiss Hajnalka; Darai Eva; Kiss Csaba; Kost-Alimova Maria; Klein George; Dumanski Jan P; Imreh Stephan
Comparative human/murine sequence analysis of the common eliminated region 1 from human 3p21.3.
Mammalian genome : official journal of the International Mammalian Genome Society 2002;13(11):646-55.
2002: Rampazzo Chiara; Kost-Alimova Maria; Ruzzenente Benedetta; Dumanski Jan P; Bianchi Vera
Mouse cytosolic and mitochondrial deoxyribonucleotidases: cDNA cloning of the mitochondrial enzyme, gene structures, chromosomal mapping and comparison with the human orthologs.
Gene 2002;294(1-2):109-17.
2002: Anderlid Britt-Marie; Schoumans Jacqueline; Annerén Göran; Tapia-Paez Isabel; Dumanski Jan; Blennow Elisabeth; Nordenskjöld Magnus
FISH-mapping of a 100-kb terminal 22q13 deletion.
Human genetics 2002;110(5):439-43.
2002: Luo Liping; Chen Jindong; Du Quan; Dumanski Jan; Blennow Elisabeth; Kockum Ingrid; Luthman Holger; Lindblom Annika
A region close to Tp53 shows LOH in familial breast cancer.
International journal of molecular medicine 2002;9(4):405-9.
2002: Kiss Hajnalka; Yang Ying; Kiss Csaba; Andersson Kenth; Klein George; Imreh Stephan; Dumanski Jan P
The transcriptional map of the common eliminated region 1 (C3CER1) in 3p21.3.
European journal of human genetics : EJHG 2002;10(1):52-61.
2001: Grigelioniene G; Schoumans J; Neumeyer L; Ivarsson A; Eklöf O; Enkvist O; Tordai P; Fosdal I; Myhre A G; Westphal O; Nilsson N O; Elfving M; Ellis I; Anderlid B M; Fransson I; Tapia-Paez I; Nordenskjöld M; Hagenäs L; Dumanski J P
Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity.
Human genetics 2001;109(5):551-8.
2001: Tapia-Páez I; Kost-Alimova M; Hu P; Roe B A; Blennow E; Fedorova L; Imreh S; Dumanski J P
The position of t(11;22)(q23;q11) constitutional translocation breakpoint is conserved among its carriers.
Human genetics 2001;109(2):167-77.
2001: Sjöblom T; Shimizu A; O'Brien K P; Pietras K; Dal Cin P; Buchdunger E; Dumanski J P; Ostman A; Heldin C H
Growth inhibition of dermatofibrosarcoma protuberans tumors by the platelet-derived growth factor receptor antagonist STI571 through induction of apoptosis.
Cancer research 2001;61(15):5778-83.
2001: Kiss H; Kedra D; Kiss C; Kost-Alimova M; Yang Y; Klein G; Imreh S; Dumanski J P
The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3.
Genomics 2001;73(1):10-9.
2000: Grigelioniené G; Eklöf O; Laurencikas E; Ollars B; Hertel N T; Dumanski J P; Hagenäs L
Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia.
Acta paediatrica (Oslo, Norway : 1992) 2000;89(9):1072-6.
2000: Grigelioniene G; Eklöf O; Ivarsson S A; Westphal O; Neumeyer L; Kedra D; Dumanski J; Hagenäs L
Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia.
Human genetics 2000;107(2):145-9.
2000: Vanni R; Faa G; Dettori T; Melis G B; Dumanski J P; O'Brien K P
A case of dermatofibrosarcoma protuberans of the vulva with a COL1A1/PDGFB fusion identical to a case of giant cell fibroblastoma.
Virchows Archiv : an international journal of pathology 2000;437(1):95-100.
2000: O'Brien K P; Tapia-Páez I; Ståhle-Bäckdahl M; Kedra D; Dumanski J P
Characterization of five novel human genes in the 11q13-q22 region.
Biochemical and biophysical research communications 2000;273(1):90-4.
2000: Tapia-Páez I; O'Brien K P; Kost-Alimova M; Sahlén S; Kedra D; Bruder C E; Andersson B; Roe B A; Hu P; Imreh S; Blennow E; Dumanski J P
Fine mapping of the constitutional translocation t(11;22)(q23;q11).
Human genetics 2000;106(5):506-16.
1999: Kiss H; Kedra D; Yang Y; Kost-Alimova M; Kiss C; O'Brien K P; Fransson I; Klein G; Imreh S; Dumanski J P
A novel gene containing LIM domains (LIMD1) is located within the common eliminated region 1 (C3CER1) in 3p21.3.
Human genetics 1999;105(6):552-9.
1999: Yang Y; Kiss H; Kost-Alimova M; Kedra D; Fransson I; Seroussi E; Li J; Szeles A; Kholodnyuk I; Imreh M P; Fodor K; Hadlaczky G; Klein G; Dumanski J P; Imreh S
A 1-Mb PAC contig spanning the common eliminated region 1 (CER1) in microcell hybrid-derived SCID tumors.
Genomics 1999;62(2):147-55.
1999: Khodaei S; O'Brien K P; Dumanski J; Wong F K; Weber G
Characterization of the MEN1 ortholog in zebrafish.
Biochemical and biophysical research communications 1999;264(2):404-8.
1999: Seroussi E; Kedra D; Pan H Q; Peyrard M; Schwartz C; Scambler P; Donnai D; Roe B A; Dumanski J P
Duplications on human chromosome 22 reveal a novel Ret Finger Protein-like gene family with sense and endogenous antisense transcripts.
Genome research 1999;9(9):803-14.
1999: Shimizu A; O'Brien K P; Sjöblom T; Pietras K; Buchdunger E; Collins V P; Heldin C H; Dumanski J P; Ostman A
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.
Cancer research 1999;59(15):3719-23.
1999: Bruder C E; Ichimura K; Blennow E; Ikeuchi T; Yamaguchi T; Yuasa Y; Collins V P; Dumanski J P
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?
Genes, chromosomes & cancer 1999;25(2):184-90.
1999: Bruder C E; Ichimura K; Tingby O; Hirakawa K; Komatsuzaki A; Tamura A; Yuasa Y; Collins V P; Dumanski J P
A group of schwannomas with interstitial deletions on 22q located outside the NF2 locus shows no detectable mutations in the NF2 gene.
Human genetics 1999;104(5):418-24.
1999: Seroussi E; Kedra D; Kost-Alimova M; Sandberg-Nordqvist A C; Fransson I; Jacobs J F; Fu Y; Pan H Q; Roe B A; Imreh S; Dumanski J P
TOM1 genes map to human chromosome 22q13.1 and mouse chromosome 8C1 and encode proteins similar to the endosomal proteins HGS and STAM.
Genomics 1999;57(3):380-8.
1999: Bruder C E; Dumanski J P; Kedra D
The mouse ortholog of the human SMARCB1 gene encodes two splice forms.
Biochemical and biophysical research communications 1999;257(3):886-90.
1999: Betz R; Lagercrantz J; Kedra D; Dumanski J P; Nordenskjöld A
Genomic structure, 5' flanking sequences, and precise localization in 1P31.1 of the human prostaglandin F receptor gene.
Biochemical and biophysical research communications 1999;254(2):413-6.
1999: Peyrard M; Seroussi E; Sandberg-Nordqvist A C; Xie Y G; Han F Y; Fransson I; Collins J; Dunham I; Kost-Alimova M; Imreh S; Dumanski J P
The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(2):598-603.
1998: Gisselsson D; Höglund M; O'Brien K P; Dumanski J P; Mertens F; Mandahl N
A case of dermatofibrosarcoma protuberans with a ring chromosome 5 and a rearranged chromosome 22 containing amplified COL1A1 and PDGFB sequences.
Cancer letters 1998;133(2):129-34.
1998: O'Brien K P; Seroussi E; Dal Cin P; Sciot R; Mandahl N; Fletcher J A; Turc-Carel C; Dumanski J P
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.
Genes, chromosomes & cancer 1998;23(2):187-93.
1998: Kedra D; Pan H Q; Seroussi E; Fransson I; Guilbaud C; Collins J E; Dunham I; Blennow E; Roe B A; Piehl F; Dumanski J P
Characterization of the human synaptogyrin gene family.
Human genetics 1998;103(2):131-41.
1998: Sulman E P; Dumanski J P; White P S; Zhao H; Maris J M; Mathiesen T; Bruder C; Cnaan A; Brodeur G M
Identification of a consistent region of allelic loss on 1p32 in meningiomas: correlation with increased morbidity.
Cancer research 1998;58(15):3226-30.
1998: Peyrard M; Parveneh S; Lagercrantz S; Ekman M; Fransson I; Sahlén S; Dumanski J P
Cloning, expression pattern, and chromosomal assignment to 16q23 of the human gamma-adaptin gene (ADTG).
Genomics 1998;50(2):275-80.
1998: Seroussi E; Pan H Q; Kedra D; Roe B A; Dumanski J P
Characterization of the human NIPSNAP1 gene from 22q12: a member of a novel gene family.
Gene 1998;212(1):13-20.
1997: Carlson K M; Bruder C; Nordenskjöld M; Dumanski J P
1p and 3p deletions in meningiomas without detectable aberrations of chromosome 22 identified by comparative genomic hybridization.
Genes, chromosomes & cancer 1997;20(4):419-24.
1997: Kedra D; Seroussi E; Fransson I; Trifunovic J; Clark M; Lagercrantz J; Blennow E; Mehlin H; Dumanski J
The germinal center kinase gene and a novel CDC25-like gene are located in the vicinity of the PYGM gene on 11q13.
Human genetics 1997;100(5-6):611-9.
1997: Guilbaud C; Peyrard M; Fransson I; Clifton S W; Roe B A; Carter N P; Dumanski J P
Characterization of the mouse beta-prime adaptin gene; cDNA sequence, genomic structure, and chromosomal localization.
Mammalian genome : official journal of the International Mammalian Genome Society 1997;8(9):651-6.
1997: Nordqvist A C; Peyrard M; Pettersson H; Mathiesen T; Collins V P; Dumanski J P; Schalling M
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.
Cancer research 1997;57(13):2611-4.
1997: Simon M P; Pedeutour F; Sirvent N; Grosgeorge J; Minoletti F; Coindre J M; Terrier-Lacombe M J; Mandahl N; Craver R D; Blin N; Sozzi G; Turc-Carel C; O'Brien K P; Kedra D; Fransson I; Guilbaud C; Dumanski J P
Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma.
Nature genetics 1997;15(1):95-8.
1996: Dumanski J P
The human chromosome 22-located genes and malignancies of the central nervous system.
Neuropathology and applied neurobiology 1996;22(5):412-7.
1996: Peyrard M; Pan H Q; Kedra D; Fransson I; Swahn S; Hartman K; Clifton S W; Roe B A; Dumanski J P
Structure of the promoter and genomic organization of the human beta'-adaptin gene (BAM22) from chromosome 22q12.
Genomics 1996;36(1):112-7.
1996: Budarf M L; Eckman B; Michaud D; McDonald T; Gavigan S; Buetow K H; Tatsumura Y; Liu Z; Hilliard C; Driscoll D; Goldmuntz E; Meese E; Zwarthoff E C; Williams S; McDermid H; Dumanski J P; Biegel J; Bell C J; Emanuel B S
Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel.
Genomics 1996;35(2):275-88.
1996: Lagercrantz J; Kedra D; Carson E; Nordenskjöld M; Dumanski J P; Weber G; Piehl F
Sequence and expression of the mouse homologue to human phospholipase C beta3 neighboring gene.
Biochemical and biophysical research communications 1996;223(2):335-40.
1996: Kedra D; Peyrard M; Fransson I; Collins J E; Dunham I; Roe B A; Dumanski J P
Characterization of a second human clathrin heavy chain polypeptide gene (CLH-22) from chromosome 22q11.
Human molecular genetics 1996;5(5):625-31.
1994: Xie Y G; Han F Y; Bajalica S; Blennow E; Kristoffersson U; Dumanski J P; Nordenskjöld M
Identification, characterisation and clinical applications of cosmids from the telomeric and centromeric regions of the long arm of chromosome 22.
Human genetics 1994;94(4):339-45.
1994: Peyrard M; Fransson I; Xie Y G; Han F Y; Ruttledge M H; Swahn S; Collins J E; Dunham I; Collins V P; Dumanski J P
Characterization of a new member of the human beta-adaptin gene family from chromosome 22q12, a candidate meningioma gene.
Human molecular genetics 1994;3(8):1393-9.
1994: Ruttledge M H; Xie Y G; Han F Y; Peyrard M; Collins V P; Nordenskjöld M; Dumanski J P
Deletions on chromosome 22 in sporadic meningioma.
Genes, chromosomes & cancer 1994;10(2):122-30.
1994: Lindblom A; Sandelin K; Iselius L; Dumanski J; White I; Nordenskjöld M; Larsson C
Predisposition for breast cancer in carriers of constitutional translocation 11q;22q.
American journal of human genetics 1994;54(5):871-6.
1994: Nesslinger N J; Gorski J L; Kurczynski T W; Shapira S K; Siegel-Bartelt J; Dumanski J P; Cullen R F; French B N; McDermid H E
Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3.
American journal of human genetics 1994;54(3):464-72.
1994: Lindblom A; Ruttledge M; Collins V P; Nordenskjöld M; Dumanski J P
Chromosomal deletions in anaplastic meningiomas suggest multiple regions outside chromosome 22 as important in tumor progression.
International journal of cancer. Journal international du cancer 1994;56(3):354-7.
1993: Ruttledge M H; Narod S A; Dumanski J P; Parry D M; Eldridge R; Wertelecki W; Parboosingh J; Faucher M C; Lenoir G M; Collins V P
Presymptomatic diagnosis for neurofibromatosis 2 with chromosome 22 markers.
Neurology 1993;43(9):1753-60.
1993: Xie Y G; Han F Y; Peyrard M; Ruttledge M H; Fransson I; DeJong P; Collins J; Dunham I; Nordenskjöld M; Dumanski J P
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.
Human molecular genetics 1993;2(9):1361-8.
1993: Rose T M; Lagrou M J; Fransson I; Werelius B; Delattre O; Thomas G; de Jong P J; Todaro G J; Dumanski J P
The genes for oncostatin M (OSM) and leukemia inhibitory factor (LIF) are tightly linked on human chromosome 22.
Genomics 1993;17(1):136-40.
1992: Carey A H; Kelly D; Halford S; Wadey R; Wilson D; Goodship J; Burn J; Paul T; Sharkey A; Dumanski J
Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome.
American journal of human genetics 1992;51(5):964-70.
1991: Carlbom E; Sugawa N; Larsson C; Scambler P J; Dumanski J P; Collins V P; Nordenskjöld M
Identification of twelve new RFLP-markers on chromosome 22q11-qter.
Human genetics 1991;88(2):135-8.
1991: Dumanski J P; Carlbom E; Collins V P; Nordenskjöld M; Emanuel B S; Budarf M L; McDermid H E; Wolff R; O'Connell P; White R
A map of 22 loci on human chromosome 22.
Genomics 1991;11(3):709-19.
1991: Scambler P J; Carey A H; Wyse R K; Roach S; Dumanski J P; Nordenskjold M; Williamson R
Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.
Genomics 1991;10(1):201-6.
1990: Dumanski J P; Rouleau G A; Nordenskjöld M; Collins V P
Molecular genetic analysis of chromosome 22 in 81 cases of meningioma.
Cancer research 1990;50(18):5863-7.
1990: Collins V P; Nordenskjöld M; Dumanski J P
The molecular genetics of meningiomas.
Brain pathology (Zurich, Switzerland) 1990;1(1):19-24.
1990: Carey A H; Roach S; Williamson R; Dumanski J P; Nordenskjold M; Collins V P; Rouleau G; Blin N; Jalbert P; Scambler P J
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.
Genomics 1990;7(3):299-306.
1990: Dumanski J P; Geurts van Kessel A H; Ruttledge M; Wladis A; Sugawa N; Collins V P; Nordenskjöld M
Isolation of anonymous, polymorphic DNA fragments from human chromosome 22q12-qter.
Human genetics 1990;84(3):219-22.
1988: James C D; Carlbom E; Dumanski J P; Hansen M; Nordenskjold M; Collins V P; Cavenee W K
Clonal genomic alterations in glioma malignancy stages.
Cancer research 1988;48(19):5546-51.
1988: Dumanski J P; Ruttledge M; Datta S
Rapid minipreparations of bacteriophage lambda DNA.
Nucleic acids research 1988;16(18):9044.
1987: Dumanski J P; Carlbom E; Collins V P; Nordenskjöld M
Deletion mapping of a locus on human chromosome 22 involved in the oncogenesis of meningioma.
Proceedings of the National Academy of Sciences of the United States of America 1987;84(24):9275-9.

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