Zobrazeno 1 - 10
of 119
pro vyhledávání: '"Valérie Malan"'
Autor:
Romain Nicolle, Nami Altin, Karine Siquier-Pernet, Sherlina Salignac, Pierre Blanc, Arnold Munnich, Christine Bole-Feysot, Valérie Malan, Barthélémy Caron, Patrick Nitschké, Isabelle Desguerre, Nathalie Boddaert, Marlène Rio, Antonio Rausell, Vincent Cantagrel
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-10 (2023)
Abstract Bi-allelic variants in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene have been involved in early-onset encephalopathies classified as pontocerebellar hypoplasia (PCH) type 6 and in epileptic encephalopathy. A variant (NM_020
Externí odkaz:
https://doaj.org/article/171f70d6cf7543cf8446ba86ba7ec84b
Autor:
Arnold Munnich, Caroline Demily, Lisa Frugère, Charlyne Duwime, Valérie Malan, Giulia Barcia, Céline Vidal, Emeline Throo, Claude Besmond, Laurence Hubert, Gilles Roland-Manuel, Jean-Pierre Malen, Mélanie Ferreri, Sylvain Hanein, Jean-Christophe Thalabard, Nathalie Boddaert, Moïse Assouline
Publikováno v:
Molecular Autism, Vol 10, Iss 1, Pp 1-10 (2019)
Abstract Background Neurogenetics investigations and diagnostic yield in patients with autism spectrum disorder (ASD) have significantly improved over the last few years. Yet, many patients still fail to be systematically investigated. Methods To imp
Externí odkaz:
https://doaj.org/article/82edb3badd9e428b9096501733b083a1
Autor:
Kévin Uguen, Claire Jubin, Yannis Duffourd, Claire Bardel, Valérie Malan, Jean‐Michel Dupont, Laila El Khattabi, Nicolas Chatron, Antonio Vitobello, Pierre‐Antoine Rollat‐Farnier, Céline Baulard, Marc Lelorch, Aurélie Leduc, Emilie Tisserant, Frédéric Tran Mau‐Them, Vincent Danjean, Marc Delepine, Marianne Till, Vincent Meyer, Stanislas Lyonnet, Anne‐laure Mosca‐Boidron, Julien Thevenon, Laurence Faivre, Christel Thauvin‐Robinet, Caroline Schluth‐Bolard, Anne Boland, Robert Olaso, Patrick Callier, Serge Romana, Jean‐François Deleuze, Damien Sanlaville
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Abstract Background Structural variants (SVs) include copy number variants (CNVs) and apparently balanced chromosomal rearrangements (ABCRs). Genome sequencing (GS) enables SV detection at base‐pair resolution, but the use of short‐read sequencin
Externí odkaz:
https://doaj.org/article/2bc4ee64a0974d0d8733a52a9dd35fe4
Autor:
Yosra Lajmi, Laurence Loeuillet, Giulia Petrilli, Charles Egloff, Juliette Nectoux, Clémence Molac, Nathalie Roux, Emmanuelle Pannier, Amale Achaiaa, Zaina Ait Arkoub, Sophie Chuon, Aurélie Coussement, Jean Michel Dupont, Valérie Malan, Emmanuel Spaggiari, Ferechte Razavi, Jeanne Amiel, Bettina Bessières, Sarah Grotto, Tania Attié‐Bitach
Publikováno v:
Birth Defects Research. 115:563-571
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::84f19d14641e3328bdbd1a048329f155
https://doi.org/10.1002/bdr2.2141
https://doi.org/10.1002/bdr2.2141
Autor:
Marion, Aubert-Mucca, Céline, Huber, Genevieve, Baujat, Caroline, Michot, Mohammed, Zarhrate, Marc, Bras, Lucile, Boutaud, Valérie, Malan, Tania, Attie-Bitach, Khaloua, Zaafrane
Publikováno v:
Journal of Medical Genetics. 60:337-345
BackgroundEllis-Van Creveld (EVC) syndrome is one of the entities belonging to the skeletal ciliopathies short rib–polydactyly subgroup. Major signs are ectodermal dysplasia, chondrodysplasia, polydactyly and congenital cardiopathy, with a high deg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f3862b0f38404d8a791c7016cae34f8
https://doi.org/10.1136/jmg-2022-108435
https://doi.org/10.1136/jmg-2022-108435
Autor:
Cécile Courdier, John Boudjarane, Valérie Malan, Christine Muti, Brian Sperelakis‐Beedham, Sylvie Odent, Sylvie Jaillard, Chloé Quelin, Cédric Le Caignec, Olivier Patat, Charlotte Dubucs, Sophie Julia, Caroline Schluth‐Bolard, Carole Goumy, Sylvia Redon, Jean‐Baptiste Gaillard, Minh Tuan Huynh, Céline Dupont, Anne‐Claude Tabet, Guillaume Cogan, François Vialard, Rodolphe Dard, Guillaume Jedraszak, Florence Jobic, Mathilde Lefebvre, Geneviève Quenum, Saori Inai, Mélanie Rama, Fanny Sauvestre, Frédéric Coatleven, Julie Thomas, Caroline Rooryck
Publikováno v:
Prenatal Diagnosis
Prenatal Diagnosis, 2023, ⟨10.1002/pd.6340⟩
Prenatal Diagnosis, 2023, ⟨10.1002/pd.6340⟩
International audience; Objective: We aimed to gather fetal cases carrying a 7q11.23 copy number variation (CNV) and collect precise clinical data to broaden knowledge of antenatal features in these syndromes.Methods: We retrospectively recruited unr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2298cfc427024007f848f111933c8ba8
https://hal-u-picardie.archives-ouvertes.fr/hal-04032330
https://hal-u-picardie.archives-ouvertes.fr/hal-04032330
Autor:
Francisco Requena, David Salgado, Valérie Malan, Damien Sanlaville, Frédéric Bilan, Christophe Béroud, Antonio Rausell
Copy number variants (CNVs) are a major cause of rare pediatric diseases with a broad spectrum of phenotypes. Genetic diagnosis based on comparative genomic hybridization tests typically identifies ∼8-10% of patients as having CNVs of unknown signi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2b7a7d418c0e7bb39e51b66413a651a8
https://doi.org/10.1101/2022.06.23.22276396
https://doi.org/10.1101/2022.06.23.22276396
Autor:
Marion Lesieur‐Sebellin, Marianne Till, Philippe Khau Van Kien, Bérénice Herve, Nicolas Bourgon, Céline Dupont, Anne‐Claude Tabet, Mathilde Barrois, Aurélie Coussement, Laurence Loeuillet, Eve Mousty, Vuthy Ea, Amal Assal, Laura Mary, Sylvie Jaillard, Claire Beneteau, Claudine Le Vaillant, Charles Coutton, Françoise Devillard, Carole Goumy, Amélie Delabaere, Sylvia Redon, Yves Laurent, Audrey Lamouroux, Jérôme Massardier, Catherine Turleau, Damien Sanlaville, Vincent Cantagrel, Pascale Sonigo, François Vialard, Laurent J. Salomon, Valérie Malan
Publikováno v:
Prenatal Diagnosis
Prenatal Diagnosis, Wiley, 2021, ⟨10.1002/pd.6074⟩
Prenatal Diagnosis, 2022, 42 (1), pp.118-135. ⟨10.1002/pd.6074⟩
Prenatal Diagnosis, Wiley, 2021, ⟨10.1002/pd.6074⟩
Prenatal Diagnosis, 2022, 42 (1), pp.118-135. ⟨10.1002/pd.6074⟩
International audience; OBJECTIVE: Terminal 6q deletion is a rare genetic condition associated with a neurodevelopmental disorder characterized by intellectual disability and structural brain anomalies. Interestingly, a similar phenotype is observed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c98e980d6de9a1cdbdb7f9b415b26f5
https://hal.archives-ouvertes.fr/hal-03481652
https://hal.archives-ouvertes.fr/hal-03481652
Autor:
Roseline Vibert, Cyril Mignot, Boris Keren, Sandra Chantot‐Bastaraud, Marie‐France Portnoï, Marie‐Christine Nouguès, Marie‐Laure Moutard, Anne Faudet, Sandra Whalen, Damien Haye, Catherine Garel, Nicolas Chatron, Massimiliano Rossi, Catherine Vincent‐Delorme, Odile Boute, Bruno Delobel, Joris Andrieux, Françoise Devillard, Charles Coutton, Jacques Puechberty, Céline Pebrel‐Richard, Cindy Colson, Marion Gerard, Chantal Missirian, Sabine Sigaudy, Tiffany Busa, Martine Doco‐Fenzy, Valérie Malan, Marlène Rio, Bérénice Doray, Damien Sanlaville, Jean‐Pierre Siffroi, Delphine Héron, Solveig Heide
Publikováno v:
Clinical Genetics
Clinical Genetics, 2022, 101 (3), pp.307-316. ⟨10.1111/cge.14096⟩
Clinical Genetics, 2022, 101 (3), pp.307-316. ⟨10.1111/cge.14096⟩
International audience; Inverted duplication deletion 8p [invdupdel(8p)] is a complex and rare chromosomal rearrangement that combines a distal deletion and an inverted interstitial duplication of the short arm of chromosome 8. Carrier patients usual
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2105f721b0cce4c780286d83238add0
https://pubmed.ncbi.nlm.nih.gov/34866188
https://pubmed.ncbi.nlm.nih.gov/34866188
Autor:
Marianna Parlato, Sandrine Nugteren, D.J. Lindenbergh-Kortleve, Remy Boisgard, R. C. Raatgeep, Nicolas Guegan, Iris H I M Hollink, Nadine Cerf-Bensussan, L M M Costes, Fabienne Charbit-Henrion, M. Luisa Mearin, Johanna C. Escher, Valérie Malan, Jan Krzysztof Nowak, Janneke N. Samsom, Sharon Veenbergen, Maria E. Joosse
Publikováno v:
Mucosal Immunology, 14(5), 1172-1182. SPRINGERNATURE
Mucosal Immunology
Mucosal Immunology, 14(5), 1172-1182. Nature Publishing Group
Mucosal Immunology
Mucosal Immunology, 14(5), 1172-1182. Nature Publishing Group
Single genetic mutations predispose to very early onset inflammatory bowel disease (VEO-IBD). Here, we identify a de novo duplication of the 10p15.1 chromosomal region, including the IL2RA locus, in a 2-year-old girl with treatment-resistant pancolit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a002db7d270b9a537d87accc4d0b3ea0
https://hdl.handle.net/1887/3277458
https://hdl.handle.net/1887/3277458