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Jan Piotr Dumanski
Jan Piotr Dumanski
Professor, Uppsala University, Sweden; Visiting professor, Medical University of Gdansk, Poland.
Zweryfikowany adres z igp.uu.se - Strona główna
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Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2
GA Rouleau, P Merel, M Lutchman, M Sanson, J Zucman, C Marineau, ...
Nature 363 (6429), 515-521, 1993
15771993
The DNA sequence of human chromosome 22
I Dunham, AR Hunt, JE Collins, R Bruskiewich, DM Beare, M Clamp, ...
Nature 402 (6761), 489-495, 1999
14461999
Clonal genomic alterations in glioma malignancy stages
CD James, E Carlbom, JP Dumanski, M Hansen, M Nordenskjold, ...
Cancer research 48 (19), 5546-5551, 1988
6771988
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles
CEG Bruder, A Piotrowski, AACJ Gijsbers, R Andersson, S Erickson, ...
The American Journal of Human Genetics 82 (3), 763-771, 2008
6702008
Deregulation of the platelet-derived growth factor β-chain gene via fusion with collagen gene COL1A1 in dermatof ibrosarcoma protuberans and giant-cell fibroblastoma
MP Simon, F Pedeutour, N Sirvent, J Grosgeorge, F Minoletti, JM Coindre, ...
Nature genetics 15 (1), 95-98, 1997
5591997
Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas
MH Ruttledge, J Sarrazin, S Rangaratnam, CM Phelan, E Twist, P Merel, ...
Nature genetics 6 (2), 180-184, 1994
5561994
The dermatofibrosarcoma protuberans-associated collagen type Iα1/platelet-derived growth factor (PDGF) B-chain fusion gene generates a transforming protein that is processed to …
A Shimizu, KP O’Brien, T Sjöblom, K Pietras, E Buchdunger, VP Collins, ...
Cancer research 59 (15), 3719-3723, 1999
3311999
Growth inhibition of dermatofibrosarcoma protuberans tumors by the platelet-derived growth factor receptor antagonist STI571 through induction of apoptosis
T Sjöblom, A Shimizu, KP O’Brien, K Pietras, P Dal Cin, E Buchdunger, ...
Cancer Research 61 (15), 5778-5783, 2001
3202001
LARGE can functionally bypass α-dystroglycan glycosylation defects in distinct congenital muscular dystrophies
R Barresi, DE Michele, M Kanagawa, HA Harper, SA Dovico, JS Satz, ...
Nature medicine 10 (7), 696-703, 2004
2922004
Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer
LA Forsberg, C Rasi, N Malmqvist, H Davies, S Pasupulati, G Pakalapati, ...
Nature genetics 46 (6), 624-628, 2014
2882014
Molecular recognition by LARGE is essential for expression of functional dystroglycan
M Kanagawa, F Saito, S Kunz, T Yoshida-Moriguchi, R Barresi, ...
Cell 117 (7), 953-964, 2004
2852004
Deletion mapping of a locus on human chromosome 22 involved in the oncogenesis of meningioma.
JP Dumanski, E Carlbom, VP Collins, M Nordenskjöld
Proceedings of the National Academy of Sciences 84 (24), 9275-9279, 1987
2631987
Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome
PJ Scambler, AH Carey, RKH Wyse, S Roach, JP Dumanski, ...
Genomics 10 (1), 201-206, 1991
2381991
Genomic microarrays in the spotlight
KK Mantripragada, PG Buckley, TD de Ståhl, JP Dumanski
TRENDS in Genetics 20 (2), 87-94, 2004
2342004
Somatic mosaicism for copy number variation in differentiated human tissues
A Piotrowski, CEG Bruder, R Andersson, TD De Ståhl, U Menzel, ...
Human mutation 29 (9), 1118-1124, 2008
2322008
Molecular genetic analysis of chromosome 22 in 81 cases of meningioma
JP Dumanski, GA Rouleau, M Nordenskjöld, VP Collins
Cancer research 50 (18), 5863-5867, 1990
2191990
Mosaicism in health and disease—clones picking up speed
LA Forsberg, D Gisselsson, JP Dumanski
Nature Reviews Genetics 18 (2), 128-142, 2017
2102017
Age-related somatic structural changes in the nuclear genome of human blood cells
LA Forsberg, C Rasi, HR Razzaghian, G Pakalapati, L Waite, ...
The American Journal of Human Genetics 90 (2), 217-228, 2012
2092012
Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome
AH Carey, D Kelly, S Halford, R Wadey, D Wilson, J Goodship, J Burn, ...
American journal of human genetics 51 (5), 964, 1992
2001992
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 …
KP O'Brien, E Seroussi, P Dal Cin, R Sciot, N Mandahl, JA Fletcher, ...
Genes, Chromosomes and Cancer 23 (2), 187-193, 1998
1961998
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