Claude Ferec
机构: MD-PhD, Pharm, Professor of Genetics, INSERM and University of Brest
主页: univ-brest.fr
每年引用次数
引用次数
引用: 30,538
H-指数: 86
I10-指数 : 428
出版物: 1,053
Molecular biology of cystic fibrosis: State of the art
C. Ferec
Pediatric Pulmonology 19 61 -62
1
1995
Phenotypic and functional data confirm causality of the recently identified hemojuvelin p.r176c missense mutation
C. Ka , G. Le Gac , E. Letocart , I. Gourlaouen
Haematologica 92 ( 9) 1262 -1263
8
2007
Early-onset haemochromatosis caused by a novel combination of TFR2 mutations(p.R396X/c.1538-2 A>G) in a woman of Italian descent.
V. Gerolami , G. Le Gac , L. Mercier , M. Nezri
Haematologica 93 ( 5)
17
2008
Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia.
G. Le Gac , R. Congiu , I. Gourlaouen , M. Cau
Haematologica 95 ( 4) 685 -687
9
2010
Overexpression of certain transient receptor potential and Orai channels in prostate cancer is associated with decreased risk of systemic recurrence after radical prostatectomy.
M. A. Perrouin‐Verbe , N. Schoentgen , M. Talagas , R. Garlantezec
The Prostate 79 ( 16) 1793 -1804
4
2019
Three Novel Mutations in Turkish Children with Cystic Fibrosis: Case Report
Özlem Giray , Duygu Ölmez , Özkan Karaman , Ayfer Ulgenalp
Turkiye Klinikleri Tip Bilimleri Dergisi 29 ( 6) 1754 -1758
2009
Etat réfractaire aux transfusions de plaquettes chez les patients adultes : revue de la littérature
Virginie Moalic , Claude Ferec
MT. Médecine thérapeutique 11 ( 3) 182 -189
2005
La greffe avec sang de cordon
Virginie Moalic , Claude Ferec
MT. Médecine thérapeutique 11 ( 1) 18 -22
2005
Cystic fibrosis in a boy with meconium ileus and mild clinical phenotype associated with 2183AA-G/D1152H genotype.
Claude Ferec , Nural Kiper , Uğur Ozçelik , Ebru Yalçin
Turkish Journal of Pediatrics 50 ( 4) 383
1
2008
Methods and pharmaceutical compositions for the treatment of diseases associated with reduced cftr function
Claude Ferec , Pascal Trouve , Mathieu Kerbiriou , Florentin Huguet
2018
Cloning and Sequence Analysis of Five Distinct cDNAs Encoding Cystic Fibrosis Transmembrane Conductance Regulator From the Atlantic Salmon, Salmo salar
Claude Ferec , Bernard Mercier , Christopher P. Cutler , Jian-Min Chen
American Journal of Human Genetics 65 ( 4)
1
1999
The p.E152K-STIM1 mutation deregulates Ca2+ signaling contributing to chronic pancreatitis.
Claude Ferec , Nicolas Lebonvallet , Peter B. Stathopulos , Mitsuhiko Ikura
Journal of Cell Science 134 ( 3)
2021
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Ada Hamosh , Ellen van Binsbergen , Gaetan Lesca , Giulia Pascolini
Genetics in Medicine 1 -13
1
2021
Monoclonal antibody analysis of blood and cornea T lymphocyte subpopulations in herpes simplex keratitis
Pierre Youinou , Joseph Colin , Claude Ferec ,
Graefes Archive for Clinical and Experimental Ophthalmology 224 ( 2) 131 -133
12
1986
Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease
Marie-Pierre Audrézet , Christine Corbiere , Said Lebbah , Vincent Morinière
Journal of The American Society of Nephrology 27 ( 3) 722 -729
40
2016
CELF proteins regulate CFTR pre-mRNA splicing: essential role of the divergent domain of ETR-3
Gwendal Dujardin , Emanuele Buratti , Nicolas Charlet-Berguerand , Mafalda Martins de Araujo
Nucleic Acids Research 38 ( 20) 7273 -7285
31
2010
No association between factor V Leiden and C282Y mutation in the hereditary hemochromatosis gene.
Cédric Le Maréchal , Odile Raguénès , Claude Ferec
Blood 93 ( 11) 4024 -4025
1999
Sequential Analysis By Next Generation Sequencing of 18 Genes in Polycythemia Vera and Essential Thrombocythemia Reveals a Association Between Mutational Status and Clinical Outcome after 3-Year Follow-up
Damien Luque Paz , Aurelie Chauveau , Caroline Buors , Jean-Christophe Ianotto
Blood 126 ( 23) 2808 -2808
2015
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Mireille Claustres , Caroline Guittard , Dominique Bozon , Fran�oise Chevalier
Human Mutation 16 ( 2) 143 -156
225
2000
Diagnostic value of targeted next‐generation sequencing in suspected hemochromatosis patients with a single copy of the HFE p.Cys282Tyr causative allele
Kevin Uguen , Virginie Scotet , Chandran Ka , Isabelle Gourlaouen
American Journal of Hematology 92 ( 12)
1
2017