Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Patricia Lewin"'
Autor:
Tiziana Pascucci, Riccardo Alessandrelli, Valerio Napolioni, Stefano Puglisi-Allegra, Roberto Sacco, Patricia Lewin, Paolo Curatolo, C. Lenti, Carmela Bravaccio, Karl L. Reichelt, Raun Melmed, Barbara Manzi, Cindy Schneider, Roberto Militerni, Federica Lombardi, Antonio M. Persico, Monica Saccani, Francis Rousseau
Publikováno v:
European Journal of Human Genetics. 19:353-359
The integrin-β 3 gene (ITGB3), located on human chromosome 17q21.3, was previously identified as a quantitative trait locus (QTL) for 5-HT blood levels and has been implicated as a candidate gene for autism spectrum disorder (ASD). We performed a fa
Autor:
Jacques Leman, Catherine Calais, Valérie Drouin-Garraud, Christine Petit, Cédric Le Maréchal, Bétina Montaut, Bruno Delobel, Pierre Chauvin, Patricia Lewin, Sandrine Marlin, Didier Bouccara, Hélène Catros, Marie-Françoise Obstoy, Marie-Madeleine Eliot, Sébastien Schmerber, Hélène Dollfus, Patrice Tran Ba Huy, Jacqueline Vigneron, Delphine Feldmann, Albert David, Erea-Noel Garabedian, Alain Joannard, Françoise Duriez, Rémy Couderc, Cyril Goizet, Olivier Sterkers, Françoise Denoyelle, J. P. Delaunoy, Hubert Journel, Sylvie Odent, Jocelyne Hélias, Florence Fellmann
Publikováno v:
American Journal of Medical Genetics Part A. :263-267
Recent investigations identified a large deletion of the GJB6 gene in trans to a mutation of GJB2 in deaf patients. We looked for GJB2 mutations and GJB6 deletions in 255 French patients presenting with a phenotype compatible with DFNB1. 32% of the p
Autor:
Ana Belinda Campos-Xavier, Patricia Lewin, Christel Thauvin-Robinet, Martine Le Merrer, Jean-François Couailler, Laurence Faivre, J. Bonaventure, Catherine François, Frédéric Huet, Jean-Vital De Monléon
Publikováno v:
American Journal of Medical Genetics Part A. :81-84
Autor:
Jérôme Carayol, Frédéric Tores, Antonio M. Persico, Jörg Hager, Patricia Lewin, Roberto Sacco, Francis Rousseau
Background Autism is a severe developmental disorder, with strong genetic underpinnings. Previous genome-wide scans unveiled a linkage region spanning 3.5 Mb, located on human chromosome 3p25. This region encompasses the ATP2B2 gene, encoding the pla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::521ac197e956a05861838e4ab5d82d8b
https://hdl.handle.net/11380/1250977
https://hdl.handle.net/11380/1250977
Autor:
Kamran Moradkhani, Patricia Blanchet, Patricia Lewin, Hakima Lallaoui, Pierre Sarda, Geneviève Lefort, Jacques Puechberty, Christine Coubes
Publikováno v:
Prenatal diagnosis. 26(12)
Objectives This study was undertaken to discuss the workup of trisomy 16 pregnancies. Study Design This case study reports the prenatal detection and postnatal confirmation of mosaic trisomy 16, associated with uniparental disomy (UPD) 16, in a 34-ye
Autor:
Marie-Josèphe Sterboul, Patricia Lewin, Jacques Flament, Hélène Dollfus, Fernanda Belga Ottoni Porto, Geneviève Mack, José Sahel
Publikováno v:
American journal of ophthalmology. 132(6)
PURPOSE: To report a late-onset cone-rod dystrophy that revealed a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome as a consequence of the T8993G mitochondrial mutation. METHODS: Observational case series. A 42-year-old
Publikováno v:
European journal of pediatrics. 160(9)
Although serological rebound is common in infants with congenital toxoplasmosis, clinical recommendations for management, in particular the need for additional treatment, vary. The goals of our retrospective cohort study in 133 consecutive children w
Autor:
Gilles Roger, Christine Petit, Erea-Noel Garabedian, Nicole Matha, Patricia Lewin, Françoise Denoyelle, Lucien Moatti, Sandrine Marlin
Publikováno v:
Archives of otolaryngology--headneck surgery. 127(8)
Objective To evaluate difficulties encountered in genetic counseling in deaf children carrying connexin 26 gene ( CX26 or GJB2 ) mutations. Design Prospective study. Setting Outpatients, tertiary referral center. Patients Ninety-six unrelated deaf ch
Publikováno v:
Prenatal diagnosis. 20(1)
Rapid prenatal detection of selected numerical chromosomal abnormalities by using fluorescence in situ hybridization (FISH) on uncultured amniotic fluid samples was described six years ago. It allows a very rapid identification of selected aneuploidi
Publikováno v:
Mitochondrion. 11:676