J
Jacques Rochette
Researcher at University of Picardie Jules Verne
Publications - 116
Citations - 4280
Jacques Rochette is an academic researcher from University of Picardie Jules Verne. The author has contributed to research in topics: Hemochromatosis & Compound heterozygosity. The author has an hindex of 33, co-authored 115 publications receiving 4085 citations. Previous affiliations of Jacques Rochette include John Radcliffe Hospital & French Institute of Health and Medical Research.
Papers
More filters
Journal ArticleDOI
Geography of HFE C282Y and H63D mutations.
Alison T. Merryweather-Clarke,Jennifer J. Pointon,Anne Marie Jouanolle,Jacques Rochette,Kathryn J. H. Robson +4 more
TL;DR: The scarcity of the C282Y mutation in other populations accounts for the lack of HH in non-Europeans.
Journal ArticleDOI
Familial infantile convulsions and paroxysmal choreoathetosis : a new neurological syndrome linked to the pericentromeric region of human chromosome 16
Pierre Szepetowski,Jacques Rochette,Patrick Berquin,Charles Piussan,G. Mark Lathrop,Anthony P. Monaco +5 more
TL;DR: This study provides the first genetic evidence for a common basis of convulsive and choreoathetotic disorders and will help in the understanding and classification of paroxysmal neurological syndromes.
Journal ArticleDOI
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis
Alison T. Merryweather-Clarke,Estelle Cadet,Adrian Bomford,Dominique Capron,Vip Viprakasit,Anne Miller,Paddy J. McHugh,Roger W. Chapman,Jennifer J. Pointon,Victoria L. C. Wimhurst,K J Livesey,Voravarn S. Tanphaichitr,Jacques Rochette,Kathryn J. H. Robson +13 more
TL;DR: The phenotype of C282Y heterozygotes and homozygotes may be modified by heterozygosity for mutations which disrupt the function of hepcidin in iron homeostasis, with the severity of iron overload corresponding to the severityof the HAMP mutation.
Journal ArticleDOI
Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions
Hsien Yang Lee,Yong Huang,Yong Huang,Nadine Bruneau,Patrice Roll,Elisha D.O. Roberson,Mark Hermann,Emily Quinn,Emily Quinn,James W. Maas,Robert H. Edwards,Tetsuo Ashizawa,Betül Baykan,Kailash P. Bhatia,Susan B. Bressman,Michiko K. Bruno,Michiko K. Bruno,Ewout R. Brunt,Roberto Caraballo,Bernard Echenne,Natalio Fejerman,Steve Frucht,Christina A. Gurnett,Edouard Hirsch,Henry Houlden,Joseph Jankovic,Wei Ling Lee,David A. Lynch,Shehla Mohammed,Ulrich Müller,Mark Nespeca,David Renner,Jacques Rochette,Gabrielle Rudolf,Shinji Saiki,Bing-Wen Soong,Bing-Wen Soong,Kathryn J. Swoboda,Sam Tucker,Nicholas W. Wood,Michael G. Hanna,Anne M. Bowcock,Pierre Szepetowski,Ying-Hui Fu,Louis J. Ptáček,Louis J. Ptáček +45 more
TL;DR: Four truncating mutations involving the gene PRRT2 in the vast majority of well-characterized families with PKD/IC are identified, leading ultimately to neuronal hyperexcitability that manifests in vivo as PKd/IC.
Journal ArticleDOI
Dissecting the loci controlling fetal haemoglobin production on chromosomes 11p and 6q by the regressive approach.
Jamie E Craig,Jacques Rochette,Chris Fisher,David J. Weatherall,S Marc,G. M. Lathrop,G. M. Lathrop,Florence Demenais,Swee Lay Thein +8 more
TL;DR: It is demonstrated that in addition to the two factors (β thalassaemia and Xmn l-Gγ site) on chromosome 11 p, there is a third major genetic determinant for fetal Hb production localized on chromosome 6q.