Description of Copy Number Variations in a Series of Children and Adolescents with FASD in Reunion Island

Autor: Laëtitia Sennsfelder, Susie Guilly, Sébastien Leruste, Ludovic Hoareau, Willy Léocadie, Pauline Beuvain, Meïssa Nekaa, Maïté Bagard, Stéphanie Robin, Justine Lanneaux, Léa Etchebarren, Marilyn Tallot, Michel Spodenkiewicz, Jean-Luc Alessandri, Godelieve Morel, Maud Blanluet, Paul Gueguen, Bérénice Roy-Doray

Publikováno v: Children, Vol 10, Iss 4, p 694 (2023)

Background: Fetal Alcohol Spectrum Disorders (FASD) are the most common cause of neurocognitive impairment and social inadaptation, affecting 1 birth in 100. Despite the existence of precise diagnostic criteria, the diagnosis remains difficult, often

Externí odkaz: https://doaj.org/article/34991a6f01484104a9b089590b199838

Lessons from two series by physicians and caregivers’ self-reported data, and DNA methylation profile in DDX3X-Related Disorders

Autor: David Geneviève, Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, Nathalie Ruiz-Pallares, Xtraordinaire Association, Rami Abou Jamra, Alexandra Afenjar, Yves Alembik, Jean-Luc Alessandri, Arpin Stéphanie, Giulia Barcia, Šárka Bendová, Ange-Line Bruel, Perrine Charles, Nicolas Chatron, Maya Chopra, Solène Conrad, Valérie Cormier-Daire, Auriane Cospain, Christine Coubes, Juliette Coursimault, Andrée Delahaye-Duriez, Martine Doco-Fenzy, William Dufour, Benjamin Durand, Camille ENGEL, Laurence Faivre, Fanny Ferroul, Mélanie FRADIN, Hélène Frenkiel, Carlo Fusco, Livia Garavelli, Aurore Garde, Bénédicte Gérard, David Germanaud, Louise Goujon, Aurélie Gouronc, Emmanuelle Ginglinger, Alice Goldenberg, Miroslava Hancarova, Delphine Héron, Bertrand Isidor, Nolwenn Jean Marçais, Boris Keren, Margarete Koch-Hogrebe, Paul Kuentz, Victoria Lamure, Anne-Sophie Lebre, François Lecoquierre, Natacha Lehman, Gaetan Lesca, Stanislas Lyonnet, Delphine Martin, Cyril Mignot, Teresa Neuhann, Gaël Nicolas, Mathilde Nizon, Florence Petit, Christophe Philippe, Amélie Piton, Marzia Pollazzon, Darina Prchalova, Audrey Putoux, Marlène RIO, Sophie Rondeau, Massimiliano Rossi, Quentin Sabbagh, Pascale Saugier-Veber, Ariane Schmetz, Julie Steffann, Christel Thauvin-Robinet, Annick Toutain, Frédéric Tran-Mau-Them, Gabriele Trimarchi, Marie Vincent, Marketa Vlckova, Dagmar Wieczorek, Marjolaine Willems, kevin yauy, Michaela Zelinová, Alban Ziegler, Boris Chaumette, Bekim Sadikovic, Jean-Louis Mandel

We report two series of individuals with DDX3X variations, one (48 individuals) from physicians and one (44 individuals) from caregivers. These two series include several symptoms in common, with fairly similar distribution, which suggests that careg

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::51bda5fc9b2ce8d9658317152dd59e70
https://doi.org/10.21203/rs.3.rs-2760508/v1

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials

Autor: Florence Petit, Fabienne Giuliano, Juliette Mazereeuw-Hautier, Marjolaine Willems, Christel Thauvin-Robinet, Patricia Blanchet, Laurence Faivre, Elodie Gautier, Anne-Claire Bursztejn, Renaud Touraine, Annick Toutain, Frederico Di Rocco, Maxime Luu, Patrick Edery, Arthur Sorlin, Jean-Luc Alessandri, Nicolas Chassaing, Alice Goldenberg, Christine Chiaverini, Fanny Morice-Picard, Aurore Garde, Stéphanie Arpin, Massimiliano Rossi, Marc Bardou, Claire Nicolas, Gilles Morin, Jenny Cornaton, Cyril Mignot, Christophe Philippe, V. Carmignac, Rodolphe Dard, Joelle Roume, Michèle Mathieu-Dramard, Philippe Khau Van Kien, Pierre Vabres, Didier Lacombe, Diane Doummar, Lucile Pinson, Christine Coubes, Laurent Guibaud, Olivia Boccara

Publikováno v: Clinical Genetics
Clinical Genetics, Wiley, 2021, 99 (5), pp.650-661. ⟨10.1111/cge.13918⟩

Megalencephaly-CApillary malformation-Polymicrogyria (MCAP) syndrome results from somatic mosaic gain-of-function variants in PIK3CA. Main features are macrocephaly, somatic overgrowth, cutaneous vascular malformations, connective tissue dysplasia, n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5345c27d673ecdfbf963f40fb5a6980
https://doi.org/10.1111/cge.13918

Differentiating Enteroviral Meningitis from Bacterial Meningitis in Neonates

Autor: Stéphanie Robin, Nicolas Traversier, Marie Gromand, Vincent Luherne, Jean-Luc Alessandri, Duksha Ramful, Shelley Harrikaran-Biland

Publikováno v: Journal of Pediatric Infectious Diseases. 16:043-046

Objective To compare the demographical, clinical and laboratory features, and outcomes of neonates with enteroviral meningitis (EVM) with those with bacterial meningitis (BM). Methods A retrospective two-center study was performed in La Réunion Isla

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9d83de061759a1c580959223e4b6a029
https://doi.org/10.1055/s-0040-1718875

SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature

Autor: Bertrand Isidor, Kimberly A. Aldinger, Valérie Cormier-Daire, Sophie Rondeau, William B. Dobyns, Boris Keren, Pauline Marzin, Jean Luc Alessandri, Delphine Héron

Publikováno v: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 181:509-518

The common genes responsible for overgrowth syndromes play key roles in regulating transcription through histone modification and chromatin modeling. The SETD2 gene encoding a H3K36 trimethyltransferase is implicated in Sotos-like syndrome. This synd

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80d837941385a771d4eb610b49446bfd
https://doi.org/10.1002/ajmg.c.31746