Jean-Pierre Altiéri

Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations ?

Mireille Claustres, Jean-Pierre Altiéri, Caroline Guittard et al. · BMC Medical Genetics · 2004 · 59 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Large genomic rearrangements in the CFTRgene contribute to CBAVD

Magali Taulan‐Cadars, Anne Girardet, Caroline Guittard et al. · BMC Medical Genetics · 2007 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Comprehensive and Rapid Genotyping of Mutations and Haplotypes in Congenital Bilateral Absence of the Vas Deferens and Other Cystic Fibrosis Transmembrane Conductance Regulator-Related Disorders

Corinne Bareil, Caroline Guittard, Jean-Pierre Altiéri et al. · Journal of Molecular Diagnostics · 2007 · 36 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France

Marie des Georges, Caroline Guittard, Jean-Pierre Altiéri et al. · Journal of Cystic Fibrosis · 2004 · 27 citations

Life Sciences, Genetics, Molecular Genetics +13

A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variants

Anne Bergougnoux, Amandine Boureau‐Wirth, Cécile Rouzier et al. · Journal of Cystic Fibrosis · 2016 · 15 citations

Medicine, Genetics, Molecular Genetics +16