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Jian-Min Chen, MD, PhD, Directeur de Recherche
Jian-Min Chen, MD, PhD, Directeur de Recherche
EFS, Univ Brest, Inserm, UMR 1078, GGB, F-29200 Brest, France
Bestätigte E-Mail-Adresse bei univ-brest.fr
Titel
Zitiert von
Zitiert von
Jahr
Gene conversion: mechanisms, evolution and human disease
JM Chen, DN Cooper, N Chuzhanova, C Férec, GP Patrinos
Nature Reviews Genetics 8 (10), 762-775, 2007
6902007
Type of PKD1 mutation influences renal outcome in ADPKD
E Cornec-Le Gall, MP Audrézet, JM Chen, M Hourmant, MP Morin, ...
Journal of the American Society of Nephrology 24 (6), 1006-1013, 2013
4402013
Variants in CPA1 are strongly associated with early onset chronic pancreatitis
H Witt, S Beer, J Rosendahl, JM Chen, GR Chandak, A Masamune, ...
Nature genetics 45 (10), 1216-1220, 2013
2942013
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis
H Witt, M Sahin-Tóth, O Landt, JM Chen, T Kähne, JPH Drenth, Z Kukor, ...
Nature genetics 38 (6), 668-673, 2006
2662006
A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease
JM Chen, PD Stenson, DN Cooper, C Férec
Human genetics 117, 411-427, 2005
2662005
Hereditary pancreatitis caused by triplication of the trypsinogen locus
C Le Maréchal, E Masson, JM Chen, F Morel, P Ruszniewski, P Levy, ...
Nature genetics 38 (12), 1372-1374, 2006
2272006
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics
DN Cooper, JM Chen, EV Ball, K Howells, M Mort, AD Phillips, ...
Human mutation 31 (6), 631-655, 2010
2092010
Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis
E Masson, JM Chen, V Scotet, C Le Maréchal, C Férec
Human genetics 123, 83-91, 2008
1892008
A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis
K Fjeld, FU Weiss, D Lasher, J Rosendahl, JM Chen, BB Johansson, ...
Nature genetics 47 (5), 518-522, 2015
1842015
A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes I: general principles and overview
JM Chen, C Férec, DN Cooper
Human genetics 120, 1-21, 2006
1832006
Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis
JM Chen, B Mercier, MP Audrezet, C Ferec
Journal of medical genetics 37 (1), 67-69, 2000
1802000
Meta‐analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage
JM Chen, N Chuzhanova, PD Stenson, C Férec, DN Cooper
Human mutation 25 (2), 207-221, 2005
1772005
Genomic rearrangements in inherited disease and cancer
JM Chen, DN Cooper, C Férec, H Kehrer-Sawatzki, GP Patrinos
Seminars in cancer biology 20 (4), 222-233, 2010
1752010
Determination of the relative contribution of three genes–the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic …
MP Audrézet, JM Chen, C Le Maréchal, P Ruszniewski, M Robaszkiewicz, ...
European Journal of Human Genetics 10 (2), 100-106, 2002
1712002
Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients
MP Audrézet, E Cornec‐Le Gall, JM Chen, S Redon, I Quéré, J Creff, ...
Human mutation 33 (8), 1239-1250, 2012
1702012
A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes II: the importance of mRNA secondary structure in assessing the …
JM Chen, C Férec, DN Cooper
Human genetics 120, 301-333, 2006
1642006
Chronic pancreatitis: genetics and pathogenesis
JM Chen, C Férec
Annual review of genomics and human genetics 10, 63-87, 2009
1602009
Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms
MP Audrézet, JM Chen, O Raguénes, N Chuzhanova, K Giteau, ...
Human mutation 23 (4), 343-357, 2004
1462004
Genetics of osteoporosis: accelerating pace in gene identification and validation
WF Li, SX Hou, B Yu, MM Li, C Férec, JM Chen
Human genetics 127, 249-285, 2010
1402010
Evolution of trypsinogen activation peptides
JM Chen, Z Kukor, C Le Maréchal, M Tóth, L Tsakiris, O Raguénès, ...
Molecular biology and evolution 20 (11), 1767-1777, 2003
1362003
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