C. Leroy

发表

Evaluation of a saliva molecular point of care for the detection of SARS-CoV-2 in ambulatory care

C. Delaugerre, C. Elie, S. Kernéis, 2021, Scientific Reports.

Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation

W. Kiess, F. Hirsch, R. Pfäffle, 2017, Journal of clinical research in pediatric endocrinology.

Evaluation of a saliva molecular point of care for the detection of SARS-CoV-2 in ambulatory care

C. Delaugerre, C. Elie, S. Kernéis, 2021, Scientific reports.

Spectrum of CFTR Mutations on Reunion Island: Effect of Neonatal Screening

M. Renouil, J. Lesure, F. Cartault, 2005, Human biology.

Accuracy of saliva and nasopharyngeal sampling for detection of SARS-CoV-2 in community screening: a multicentric cohort study

C. Delaugerre, C. Elie, M. Vidaud, 2021, European Journal of Clinical Microbiology & Infectious Diseases.

SEMA3A, a Gene Involved in Axonal Pathfinding, Is Mutated in Patients with Kallmann Syndrome

J. Hardelin, Jacques Young, C. Cruaud, 2012, PLoS genetics.

Novel length variant of the polypyrimidine tract within the splice acceptor site in intron 8 of the CFTR gene: consequences for genetic testing using standard assays

M. Claustres, T. Bienvenu, M. D. Georges, 2005, European Journal of Human Genetics.

Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients.

J. Hardelin, C. Dodé, J. Sarfati, 2013, European journal of endocrinology.

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

J. Hardelin, Jacques Young, D. Lacombe, 2014, The Journal of clinical endocrinology and metabolism.

Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.

J. Hardelin, Jacques Young, J. Bertherat, 2013, American journal of human genetics.

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

E. Pasmant, M. Vidaud, I. Laurendeau, 2014, European Journal of Human Genetics.

Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome

J. Hardelin, S. Jacquemont, C. Dodé, 2008, European Journal of Human Genetics.

Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes

M. Cossée, F. Leturcq, J. Chelly, 2013, European Journal of Human Genetics.

A frequent large rearrangement in the CFTR gene in cystic fibrosis patients from Reunion Island.

C. Férec, J. Nectoux, M. Audrézet, 2006, Genetic testing.

ENaCβ and γ genes as modifier genes in cystic fibrosis

I. Fajac, T. Bienvenu, D. Hubert, 2008 .

ENaCbeta and gamma genes as modifier genes in cystic fibrosis.

I. Fajac, T. Bienvenu, D. Hubert, 2008, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Mutations located in exon 24 of the CFTR gene are associated with a mild cystic fibrosis phenotype

H. Van Esch, I. Fajac, T. Bienvenu, 2003, Clinical genetics.

Accuracy of antigen and nucleic acid amplification testing on saliva and naopharyngeal samples for detection of SARS-CoV-2 in ambulatory care

C. Delaugerre, C. Elie, M. Vidaud, 2021, medRxiv.

Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients.

J. Hardelin, C. Dodé, J. Sarfati, 2013, European journal of endocrinology.