Theo dõi
Jan Piotr Dumanski
Jan Piotr Dumanski
Professor, Uppsala University, Sweden; Visiting professor, Medical University of Gdansk, Poland.
Email được xác minh tại igp.uu.se - Trang chủ
Tiêu đề
Trích dẫn bởi
Trích dẫn bởi
Năm
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
16861993
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
14971999
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
7422008
Clonal genomic alterations in glioma malignancy stages
CD James, E Carlbom, JP Dumanski, M Hansen, M Nordenskjold, ...
Cancer research 48 (19), 5546-5551, 1988
6891988
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
6251994
Deregulation of the platelet-derived growth factor β-chain gene via fusion with collagen gene COL1A1 in dermatof ibrosarcoma protuberans and giant-cell …
MP Simon, F Pedeutour, N Sirvent, J Grosgeorge, F Minoletti, JM Coindre, ...
Nature genetics 15 (1), 95-98, 1997
6161997
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
4312014
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
3581999
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
3312001
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
3072004
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
3052004
Mosaicism in health and disease—clones picking up speed
LA Forsberg, D Gisselsson, JP Dumanski
Nature Reviews Genetics 18 (2), 128-142, 2017
2882017
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
2841987
Genetic predisposition to mosaic Y chromosome loss in blood
DJ Thompson, G Genovese, J Halvardson, JC Ulirsch, DJ Wright, C Terao, ...
Nature 575 (7784), 652-657, 2019
2642019
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
2571991
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
2522008
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
2482012
Genomic microarrays in the spotlight
KK Mantripragada, PG Buckley, TD de Ståhl, JP Dumanski
TRENDS in Genetics 20 (2), 87-94, 2004
2442004
Smoking is associated with mosaic loss of chromosome Y
JP Dumanski, C Rasi, M Lönn, H Davies, M Ingelsson, V Giedraitis, ...
Science 347 (6217), 81-83, 2015
2362015
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
2331990
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