G. Lalau

发表

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

E. Génin, C. Clavel, S. Leroy, 2009, Journal of Medical Genetics.

Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis

F. Broly, M. Figeac, A. Pagin, 2016, PloS one.

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

A. Valéri, C. Clavel, G. Karsenty, 2013, Journal of Medical Genetics.

CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes

A. Kitzis, E. Girodon, T. Bienvenu, 2012, Human mutation.

Sweat chloride and ΔF508 mutation in chronic bronchitis or bronchiectasis

J. Lafitte, R. Gervais, P. Roussel, 1993, The Lancet.

Sweat chloride and delta F508 mutation in chronic bronchitis or bronchiectasis.

J. Lafitte, R. Gervais, P. Roussel, 1993, Lancet.

Determination of thiopental and pentobarbital in plasma using high-performance liquid chromatography.

M. Lhermitte, P. Roussel, N. Houdret, 1985, Journal of chromatography.

[Andrological description of a population of azoospermic men with agenesis of the vas deferens].

L. Lemaitre, J. Rigot, V. Mitchell, 2014, Progrès en urologie (Paris).

Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens.

N. Chassaing, V. Gaston, E. Bieth, 2016, American journal of human genetics.

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

C. Clavel, M. Claustres, C. Férec, 2000, Human mutation.

Novel ADGRG2 truncating variants in patients with X‐linked congenital absence of vas deferens

E. Girodon, T. Bienvenu, E. Bieth, 2019, Andrology.

CFTR‐France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants

P. Fergelot, M. Claustres, A. Kitzis, 2017, Human mutation.

A new large CFTR rearrangement illustrates the importance of searching for complex alleles

P. Ruszniewski, E. Girodon, I. Sermet, 2006, Human mutation.

The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.

P. Fergelot, M. Claustres, A. Kitzis, 2022, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study

M. Claustres, E. Girodon, T. Bienvenu, 2011, European Journal of Human Genetics.

Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome).

J. Lafitte, M. Harricane, P. Bouvagnet, 2001, American journal of human genetics.

Abnormal distribution of cystic fibrosis ΔF508 allele in adults with chronic bronchial hypersecretion

J. Lafitte, R. Gervais, P. Roussel, 1990, The Lancet.

Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene.

M. Claustres, C. Férec, M. Audrézet, 2019, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.