Výsledky vyhledávání - "Feldmann, Delphine"

Akademický článek

New evidence of a mitochondrial genetic background paradox: Impact of the J haplogroup on the A3243G mutation

Autor: Pennarun Erwann, Arveiler Benoit, Bellanne-Chantelot Christine, Feldmann Delphine, Rotig Agnes, Godinot Catherine, de Camaret Benedicte, Batandier Cécile, Allouche Stéphane, Martin-Négrier Marie-Laure, Reynier Pascal, Amati-Bonneau Patricia, Rocher Christophe, Pierron Denis, Rossignol Rodrigue, Crouzet Marc, Murail Pascal, Thoraval Didier, Letellier Thierry

Publikováno v: BMC Medical Genetics, Vol 9, Iss 1, p 41 (2008)

Abstract Background The A3243G mutation in the tRNALeu gene (UUR), is one of the most common pathogenic mitochondrial DNA (mtDNA) mutations in France, and is associated with highly variable and heterogeneous disease phenotypes. To define the relation

Externí odkaz: https://doaj.org/article/1e0a95568fbf407c97d688a3914f0b5f

Zobrazit plný text záznamu

Akademický článek

Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene.

Autor: Feldmann, Delphine^1,2, Denoyelle, Françoise^2,3, Loundon, Natalie^2,3, Weil, Dominique⁴, Garabedian, Erea-Noel^2,3, Couderc, Remy^1,2, Joannard, Alain⁵, Schmerber, Sébastien⁶, Delobel, Bruno⁷, Leman, Jacques⁸, Journel, Hubert⁹, Catros, Hélène¹⁰, Ferrec, Claude¹¹, Drouin-Garraud, Valérie¹², Obstoy, Marie-Françoise¹³, Moati, Lucien^2,3, Petit, Christine⁴, Marlin, Sandrine¹⁴ sandrine.marlin@trs.ap-hop-paris.fr

Publikováno v: European Journal of Human Genetics. Apr2004, Vol. 12 Issue 4, p279-284. 6p.

Zobrazit plný text záznamu

p.Ser1235Arg should no longer be considered as a Cystic Fibrosis mutation: results from a large collaborative study: p.Ser1235Arg is not associated with CF disease

Autor: Rene, Celine, Paulet, Damien, Girodon, Emmanuelle, Costa, Catherine, Lalau, Guy, Leclerc, Julie, Cabet-Bey, Faïza, Bienvenu, Thierry, Blayau, Martine, Iron, Albert, Mittre, Hervé, Feldmann, Delphine, Guittard, Caroline, Claustres, Mireille, Des Georges, Marie

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, 2010, ⟨10.1038/ejhg.2010.137⟩
European Journal of Human Genetics, Nature Publishing Group, 2010, ⟨10.1038/ejhg.2010.137⟩

International audience; Among the 1700 mutations reported in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, a missense mutation, p.Ser1235Arg, initially reported in a CF patient with a second mutation (p.Gly628Arg) on the same a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::76ab2c3c0f55cfa9d6ea083d1babc81e
https://hal.science/hal-00567037/document

Zobrazit plný text záznamu

Surfactant Protein C Gene (SFPTC) Mutation-Associated Lung Disease: High-Resolution Computed Tomography (HRCT) Findings and its Relation to Histological Analysis: HRCT and histological finding of SFTPC mutations

Autor: Mechri, Meriem, Epaud, Ralph, Emond, Sophie, Coulomb, Aurore, Jaubert, Francis, Feldmann, Delphine, Clément, Annick, Tarrant, Ailbhe, de Blic, Jacques, Abou Taam, Rola, Brunelle, Francis, Ducou Le Pointe, Hubert

Publikováno v: Pediatric Pulmonology
Pediatric Pulmonology, Wiley, 2010, 45 (10), pp.1021. ⟨10.1002/ppul.21289⟩

International audience; Aim of the study Determine high-resolution tomography (HRCT) scan characteristics in children with SFTPC mutation and correlate them to histological findings. Patients and Methods This retrospective multicenter study included

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1398::b989400c907351d6362c26295b0eb922
https://hal.archives-ouvertes.fr/hal-00558627

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání