Folgen
Claude Ferec
Claude Ferec
MD-PhD, Pharm, Professor of Genetics, INSERM and University of Brest
Bestätigte E-Mail-Adresse bei univ-brest.fr - Startseite
Titel
Zitiert von
Zitiert von
Jahr
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
M Chillón, T Casals, B Mercier, L Bassas, W Lissens, S Silber, MC Romey, ...
New England Journal of Medicine 332 (22), 1475-1480, 1995
10781995
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
C Castellani, H Cuppens, M Macek Jr, JJ Cassiman, E Kerem, P Durie, ...
Journal of cystic fibrosis 7 (3), 179-196, 2008
8022008
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
HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis
C Mura, O Raguenes, C Férec
Blood 93 (8), 2502-2505, 1999
4831999
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
4382013
The origin of the major cystic fibrosis mutation (ΔF508) in European populations
N Morral, J Bertranpetit, X Estivill, V Nunes, T Casals, J Gimenez, A Reis, ...
Nature genetics 7 (2), 169-175, 1994
4361994
Recommendations for the classification of diseases as CFTR-related disorders
C Bombieri, M Claustres, K De Boeck, N Derichs, J Dodge, E Girodon, ...
Journal of Cystic Fibrosis 10, S86-S102, 2011
4212011
Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease
B Porath, VG Gainullin, E Cornec-Le Gall, EK Dillinger, CM Heyer, ...
The American Journal of Human Genetics 98 (6), 1193-1207, 2016
360*2016
The natural history of hereditary pancreatitis: a national series
V Rebours, MC Boutron-Ruault, M Schnee, C Férec, C Le Maréchal, ...
Gut 58 (1), 97-103, 2009
3412009
Risk of pancreatic adenocarcinoma in patients with hereditary pancreatitis: a national exhaustive series
V Rebours, MC Boutron-Ruault, M Schnee, C Férec, F Maire, P Hammel, ...
Official journal of the American College of Gastroenterology| ACG 103 (1 …, 2008
3192008
European best practice guidelines for cystic fibrosis neonatal screening
C Castellani, KW Southern, K Brownlee, JD Roelse, A Duff, M Farrell, ...
Journal of Cystic Fibrosis 8 (3), 153-173, 2009
3152009
Genetics: the use of epididymal and testicular spermatozoa for intracytoplasmic sperm injection: the genetic implications for male infertility
SJ Silber, Z Nagy, J Liu, H Tournaye, W Lissens, C Ferec, I Liebaers, ...
Human Reproduction 10 (8), 2031-2043, 1995
3141995
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders–updated European recommendations
E Dequeker, M Stuhrmann, MA Morris, T Casals, C Castellani, ...
European Journal of Human Genetics 17 (1), 51-65, 2009
3012009
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France
M Claustres, C Guittard, D Bozon, F Chevalier, C Verlingue, C Ferec, ...
Human mutation 16 (2), 143-156, 2000
2952000
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 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
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
2652006
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13
J Zielenski, M Corey, R Rozmahel, D Markiewicz, I Aznarez, T Casals, ...
Nature genetics 22 (2), 128-129, 1999
2611999
The PROPKD score: a new algorithm to predict renal survival in autosomal dominant polycystic kidney disease
E Cornec-Le Gall, MP Audrézet, A Rousseau, M Hourmant, ...
Journal of the American Society of Nephrology 27 (3), 942-951, 2016
2592016
The hereditary pancreatitis gene maps to long arm of chromosome 7
L Le Bodic, JD Bignon, O Raguénès, B Mercier, T Georgelin, M Schnee, ...
Human molecular genetics 5 (4), 549-554, 1996
2391996
Das System kann den Vorgang jetzt nicht ausführen. Versuchen Sie es später erneut.
Artikel 1–20