Zobrazeno 1 - 10
of 81
pro vyhledávání: '"O. Raguenes"'
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2007, 15 (9), pp.936-942. ⟨10.1038/sj.ejhg.5201873⟩
European Journal of Human Genetics, Nature Publishing Group, 2007, 15 (9), pp.936-942. ⟨10.1038/sj.ejhg.5201873⟩
Variations in the SPINK1 gene (encoding pancreatic secretory trypsin inhibitor (PSTI)) are associated with chronic pancreatitis. We have recently determined the functional consequences of three missense mutations that occurred within the signal pepti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cc4f0f3c9014541404ee2ae408fcffd
https://doi.org/10.1038/sj.ejhg.5201873
https://doi.org/10.1038/sj.ejhg.5201873
Autor:
Marie-Pierre Audrézet, David Neil Cooper, Cédric Le Maréchal, Nadia Chuzhanova, Jian-Min Chen, Karine Giteau, O. Raguenes, Claude Férec, Isabelle Quéré
Publikováno v:
Human Mutation. 23:343-357
Marie-Pierre Audrezet, Jian-Min Chen, Odile Raguenes, Nadia Chuzhanova, Karine Giteau, Cedric Le Marechal, Isabelle Quere, David N. Cooper, and Claude Ferec INSERM U613, Genetique Moleculaire et Genetique Epidemiologique, Centre Hospitalier Universit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7702e7853d62a41c78ec15080ef1c9b5
https://doi.org/10.1002/humu.20009
https://doi.org/10.1002/humu.20009
Publikováno v:
Human Genetics. 108:290-298
More than 900 mutations and more than 200 different polymorphisms have now been reported in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Ten years after the cloning of the CFTR gene, the complete scanning of the 27 exons to id
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12c703c7d00af0b3fce88098e2ed2e7f
https://doi.org/10.1007/s004390100490
https://doi.org/10.1007/s004390100490
Autor:
Marie-Pierre Audrézet, Robert Williamson, David Neil Cooper, Philip M. Farrell, Claude Férec, Sarah-Jane Pantaleo, Molly B. Sheridan, Maria Jesus Alonso Ramos, Trudi McDevitt, Thierry Bienvenu, O. Raguenes, Taieb Messaoud, Carlo Castellani, Francesca Torricelli, Pier Franco Pignatti, Teresa Casals, Jian-Min Chen, H. Cuppens, Nadia Chuzhanova, A. Holubová, Ourida Loumi, Caitriona King, Garry R. Cutting, Milan Macek
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
Gross genomic rearrangements involving deletions in the CFTR gene have recently been found to account for ∼20 of unidentified cystic fibrosis (CF) chromosomes in both French and Italian patients. Using QMPSF and walking quantitative DHPLC, six nove
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a92b2bdd53d2d6469c2793ee8f08ea07
https://pubmed.ncbi.nlm.nih.gov/16493442
https://pubmed.ncbi.nlm.nih.gov/16493442
Publikováno v:
Journal of Cystic Fibrosis. 5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92cb5a255ea9c711bf7ddf7b5e1e87cd
Autor:
Anne-Yvonne Mercier, Claude Férec, Virginie Scotet, Catherine Mura, Sandrine Jacolot, O. Raguenes
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 7(1)
Purpose: A 6-year survey of HFE gene test was conducted to evaluate its helpfulness for hereditary hemochromatosis diagnosis. Methods: We analyzed C282Y, H63D, and S65C mutations on 3525 individuals. Results: The test produced 89.7% and 30% of positi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f415e3d0e3a3cd4eb808dbd5dc1658ed
https://pubmed.ncbi.nlm.nih.gov/15654232
https://pubmed.ncbi.nlm.nih.gov/15654232
Autor:
M.-P. Audrézet, O. Raguenes, C. Verlingue, Isabelle Quéré, Bernard Mercier, Claude Férec, F Douchain, J. Feigelson
Publikováno v:
Human Mutation. 4:224-226
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5731060e5c7953bbcf192f2b61ff671
https://doi.org/10.1002/humu.1380040309
https://doi.org/10.1002/humu.1380040309
Autor:
Philippe Ruszniewski, O. Raguenes, Isabelle Quéré, Michel Robaszkiewicz, Cédric Le Maréchal, Claude Férec, Virginie Scotet, Jian-Min Chen, Marie-Pierre Audrézet
Publikováno v:
European journal of human genetics : EJHG. 10(2)
In the last 5 years, mutations in three genes, the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the pancreatic secretory trypsin inhibitor (PSTI) gene, have been found to be associated wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29dc4045f8542ebf364b235b40b7593a
https://pubmed.ncbi.nlm.nih.gov/12634855
https://pubmed.ncbi.nlm.nih.gov/12634855
Autor:
S R, Rivard, C, Mura, H, Simard, R, Simard, D, Grimard, G, Le Gac, O, Raguenes, C, Férec, M, De Braekeleer
Publikováno v:
British journal of haematology. 108(4)
A mutation analysis of the HFE gene followed, when applicable, by sequencing was performed on 47 patients with hereditary haemochromatosis (HH) living in Saguenay-Lac-Saint-Jean. The C282Y and H63D mutations were present on 50% and 20.3% of the HH ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::68f4131f90af4ec082ebbcfc8a841f34
https://pubmed.ncbi.nlm.nih.gov/10792295
https://pubmed.ncbi.nlm.nih.gov/10792295
Autor:
C, Ferec, O, Raguenes, A Y, Mercier, T, Le Faou, B, Chanu, A M, Le Poupon, B, Mercier, C, Mura
Publikováno v:
Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine. 5(4)
Hemochromatosis is the most common single gene disorder in Caucasian populations. Regulation of iron balance by intestine is impaired, leading to a widespread deposition of iron, and the disease is associated with an increased risk of hepatocellular
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::14a4635ad7be08edc56cd53d2131b450
https://pubmed.ncbi.nlm.nih.gov/9789968
https://pubmed.ncbi.nlm.nih.gov/9789968