Výsledky vyhledávání - "Patricia Conteville"

Prenatal Detection by Real-Time Quantitative PCR and Characterization of a New CFTR Deletion, 3600+15kbdel5.3kb (or CFTRdele19)

Autor: Dominique Vidaud, Pascale Fanen, Azarnouche Ardalan, Florence Niel, Elisabeth Flori, Michel Vidaud, Michel Goossens, Emmanuelle Girodon, Bruno Costes, Patricia Conteville

Publikováno v: Scopus-Elsevier

Cystic fibrosis (CF; MIM No. 219700), the most common autosomal recessive disease in Caucasians (1), is caused by mutations in the gene encoding CF transmembrane conductance regulator (CFTR; MIM No. 602421) (2). The disease may be revealed by fetal b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2bdd4be8988c4de3a0940a5e2288523
https://doi.org/10.1093/clinchem/46.9.1417

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Molecular analysis of the insulin receptor gene for prenatal diagnosis of leprechaunism in two families

Autor: Jocelyne Magré, Jacqueline Capeau, Nada Ghanem, Michel Goossens, Serge Amselem, Claude Besmond, Christèle Desbois-Mouthon, Emmanuelle Girodon, Patricia Conteville, Martine Caron, A. Pennerath

Publikováno v: Prenatal Diagnosis. 17:657-663

Leprechaunism is a rare autosomal recessive disorder characterized by marked intrauterine and postnatal growth retardation, severe insulin resistance, and altered glucose homeostasis. This syndrome is related to mutations in the insulin receptor (IR)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34cb730e57d4fd68d15bb4a3bf2533b9
https://doi.org/10.1002/(sici)1097-0223(199707)17:7<657::aid-pd132>3.0.co

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Exhaustive screening of exon 10 CFTR gene mutations and polymorphisms by denaturing gradient gel electrophoresis: applications to genetic counselling in cystic fibrosis

Autor: Pascale Fanen, Patricia Conteville, Zober Yahia-Cherif, Michel Goossens, J.P. Martin, Nada Ghanem, Michel Vidaud

Publikováno v: Molecular and cellular probes. 6(1)

Several mutations in the cystic fibrosis (CF) gene have been reported. Ten, including the most prevalent mutation in Caucasians, ΔF508, are located in exon 10 of the gene, in addition to five sequence polymorphisms. We have previously presented a st

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f8dd6b492b4262df47d2df5222f9120
https://pubmed.ncbi.nlm.nih.gov/1545831

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