Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome

Autor: Natacha Lehman, Didier Lacombe, Delphine Héron, Frédérique Debomy, Sylvie Manouvrier, Frédéric Huet, Patrick Edery, Laurence Faivre, Sylvie Odent, Myriam Mikaty, Jennifer Gallard, Sophie Chancenotte, Sandrine Vinault, Maïté Tauber, David Geneviève, Coralie Rastel, Nicole Philip, Christine Binquet, Mathieu Bordes, Alain Verloes, Jamal Ghoumid, Elodie Gautier, Christel Thauvin-Robinet, Emilie Schmitt, Jenny Cornaton, Marie Bournez, Nolwenn Jean, Catherine Lejeune, Delphine Minot, Alice Masurel, Pierre-Henri Roux-Levy

Publikováno v: European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2020, 63 (12), pp.104064. ⟨10.1016/j.ejmg.2020.104064⟩
European Journal of Medical Genetics, 2020, 63 (12), pp.104064. ⟨10.1016/j.ejmg.2020.104064⟩

International audience; Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder with a characteristic behavioural phenotype. A multidisciplinary approach to care is required to prevent multiple medical complications in individuals a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::074f639635dc9c567f08554df032a053
https://doi.org/10.1016/j.ejmg.2020.104064

A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome

Autor: Delphine Minot, Sophie Chancenotte, Paul Kuentz, Yvan Henrenger, Mélanie Archimbaud-Devilliers, Christel Thauvin-Robinet, Audrey Creppy, Aurore Curie, Ezzat Ghosn, Alice Masurel-Paulet, Marie Ruffier-Bourdet, Daphné Lehalle, Julien Thevenon, Nicole Philip, Marlène Bonnet, Frédéric Huet, Claire Redin, Laurence Faivre, Jean-Louis Mandel, Amélie Piton, Gaëlle Blanchard, Odile Perret

Publikováno v: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (8), pp.2103-2110. ⟨10.1002/ajmg.a.37765⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (8), pp.2103-2110. 〈10.1002/ajmg.a.37765〉
American Journal of Medical Genetics Part A, 2016, 170 (8), pp.2103-2110. ⟨10.1002/ajmg.a.37765⟩

Using targeted next generation sequencing, we have identified a splicing mutation (c.526-9_526-5del) in the SLC9A6 gene in a 9-year-old boy with mild intellectual disability (ID), microcephaly, and social interaction disabilities. This intronic micro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8d693fe8769b15989697fc7ea973436
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01680171

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome

Autor: Guillaume Jondeau, Nathalie Ruiz-Pallares, Jean-Damien Metaizeau, Christel Thauvin-Robinet, Frédéric Huet, Francine Mugneret, Fanny Coron, Bruno Leheup, Catherine Boileau, Edith Durand, Patrick Callier, Laurence Faivre, Philippe Khau Van Kien, Aurélie Plancke, Jean-Eric Wolf, Samuel Bidot, Delphine Minot, Corinne Baudoin, Véronique Dulieu, Mireille Claustres

Publikováno v: European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2010, 53 (4), pp.208-212. ⟨10.1016/j.ejmg.2010.05.002⟩

International audience; Interstitial deletions involving the 15q21.1 band are very rare. Only 4 of these cases have been studied using molecular cytogenetic techniques in order to confirm the deletion of the whole FBN1 gene. The presence of clinical

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfea5dc322ec015a3f77f7aeec646e60
https://doi.org/10.1016/j.ejmg.2010.05.002

Neuropsychological and neuroimaging phenotype induced by a CAMTA1 mutation

Autor: Eloi Magnin, Hatem Boulahdour, Oleg Blagosklonov, Laurence Faivre, Christel Thauvin-Robinet, Delphine Minot, Lucien Rumbach, Geraldine Sylvestre, Julien Thevenon

Publikováno v: Braindevelopment. 36(8)

Background/Aims: CAMTA1 mutations have recently been reported in families with intellectual disability and/or non-progressive congenital ataxias. The objective of this study was to describe the neuropsychological and neuroimaging phenotype of CAMTA1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0eaebe75bc798a7df4521cefbb58de49
https://pubmed.ncbi.nlm.nih.gov/24145135

Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability

Autor: Louise Gallagher, Philippe Jonveaux, Virginie Roze, Lydie Burglen, Laurence Duplomb, Perrine Charles, Marlène Bonnet, Delphine Héron, Mylène Béri-Dexheimer, Eloi Magnin, Anne-Laure Mosca-Boidron, Christel Depienne, Nathalie Marle, Cyril Mignot, Boris Keren, Céline Bonnet, Bernard Aral, Alexis Brice, Jeanne Amiel, Virginie Carmignac, Estelle Lopez, Mathieu Anheim, Corinne Mach, Ferechté Razavi, Christel Thauvin-Robinet, Cecilia Altuzarra, Delphine Minot, Jacqueline Vigneron, Laurence Faivre, Emmanuel Haffen, Patrick Callier, Diane Doummar, Sophie Morle, Julien Thevenon

Publikováno v: Journal of medical genetics. 49(6)

Background Non-progressive congenital ataxias (NPCA) with or without intellectual disability (ID) are clinically and genetically heterogeneous conditions. As a consequence, the identification of the genes responsible for these phenotypes remained lim

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8eeb9cc90158c1a933406fc2d1891050
https://pubmed.ncbi.nlm.nih.gov/22693284