Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Natacha Lehman"'
Publikováno v:
JMIR Research Protocols, Vol 12, p e44393 (2023)
BackgroundWilliams syndrome (WS-OMIM 194050, orphaned number: Orpha 904) is a rare condition mostly associated with intellectual disability. People with Williams syndrome are 8 times more likely to have anxiety disorders than the general population.
Externí odkaz:
https://doaj.org/article/353be30388a64e2bbf59e3968deffb76
Autor:
Jennifer Boisgontier, Jean Marc Tacchella, Hervé Lemaître, Natacha Lehman, Ana Saitovitch, Vincent Gatinois, Guilaine Boursier, Elodie Sanchez, Elza Rechtman, Ludovic Fillon, Stanislas Lyonnet, Kim-Hanh Le Quang Sang, Genevieve Baujat, Marlene Rio, Odile Boute, Laurence Faivre, Elise Schaefer, Damien Sanlaville, Monica Zilbovicius, David Grévent, David Geneviève, Nathalie Boddaert
Publikováno v:
NeuroImage: Clinical, Vol 21, Iss , Pp - (2019)
Kabuki syndrome (KS) is a rare congenital disorder (1/32000 births) characterized by distinctive facial features, intellectual disability, short stature, and dermatoglyphic and skeletal abnormalities. In the last decade, mutations in KMT2D and KDM6A
Externí odkaz:
https://doaj.org/article/60b185ed8fd8440d8fd2aa66edfd35a0
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
https://doi.org/10.21203/rs.3.rs-2760508/v1
BACKGROUND Williams syndrome (WS-OMIM 194050, orphaned number: Orpha 904) is a rare condition mostly associated with intellectual disability. People with Williams syndrome are 8 times more likely to have anxiety disorders than the general population.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f544a286a17027b9fa78fa73a7a7c789
https://doi.org/10.2196/preprints.44393
https://doi.org/10.2196/preprints.44393
Autor:
David Geneviève, Jamal Ghoumid, Myriam Mikaty, Hélène Deleersnyder, Nicole Philip, Delphine Héron, Laurence Perrin, Lyse Ruaud, Faustine Ageorge, Adeline Jacquinet, Laurence Faivre, Sophie Chancenotte, Jennifer Gallard, Didier Lacombe, Nicolas Rive Le Gouard, Natacha Lehman, Patrick Edery, Christel Thauvin-Robinet, Sylvie Manouvrier-Hanu, Coralie Rastel, Sylvie Odent, Alain Verloes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7487fff69324e511f556a9e467ae8dd1
https://doi.org/10.1111/cge.13906/v2/response1
https://doi.org/10.1111/cge.13906/v2/response1
Autor:
Jamal Ghoumid, Patrick Edery, Christel Thauvin-Robinet, Sophie Chancenotte, Nicole Philip, Alain Verloes, Myriam Mikaty, Didier Lacombe, Coralie Rastel, Lyse Ruaud, David Geneviève, Natacha Lehman, Laurence Faivre, Laurence Perrin, Nicolas Rive Le Gouard, Hélène Deleersnyder, Adeline Jacquinet, Faustine Ageorges, Delphine Héron, Jennifer Gallard, Sylvie Odent, Sylvie Manouvrier-Hanu
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, 2021, 99 (4), pp.519-528. ⟨10.1111/cge.13906⟩
Clinical Genetics, 2021, 99 (4), pp.519-528. ⟨10.1111/cge.13906⟩
Clinical Genetics, Wiley, 2021, 99 (4), pp.519-528. ⟨10.1111/cge.13906⟩
Clinical Genetics, 2021, 99 (4), pp.519-528. ⟨10.1111/cge.13906⟩
International audience; Smith-Magenis syndrome (SMS), characterized by dysmorphic features, neurodevelopmental disorder, and sleep disturbance, is due to an interstitial deletion of chromosome 17p11.2 (90%) or to point mutations in the RAI1 gene. In
Autor:
Ana Saitovitch, Jennifer Boisgontier, Elza Rechtman, Ludovic Fillon, David Grevent, Odile Boute, Elise Schaefer, Elodie Sanchez, Damien Sanlaville, Natacha Lehman, Laurence Faivre, David Geneviève, Vincent Gatinois, Nathalie Boddaert, Jean Marc Tacchella, Kim-Hanh Le Quang Sang, Marlène Rio, M. Zilbovicius, Hervé Lemaitre, Stanislas Lyonnet, Guilaine Boursier, Geneviève Baujat
Publikováno v:
Neuroimage-Clinical
Neuroimage-Clinical, Elsevier, 2019, 21, pp.101610. ⟨10.1016/j.nicl.2018.11.020⟩
NeuroImage: Clinical, Vol 21, Iss, Pp-(2019)
NeuroImage : Clinical
Neuroimage-Clinical, 2019, 21, pp.101610. ⟨10.1016/j.nicl.2018.11.020⟩
Neuroimage-Clinical, Elsevier, 2019, 21, pp.101610. ⟨10.1016/j.nicl.2018.11.020⟩
NeuroImage: Clinical, Vol 21, Iss, Pp-(2019)
NeuroImage : Clinical
Neuroimage-Clinical, 2019, 21, pp.101610. ⟨10.1016/j.nicl.2018.11.020⟩
Kabuki syndrome (KS) is a rare congenital disorder (1/32000 births) characterized by distinctive facial features, intellectual disability, short stature, and dermatoglyphic and skeletal abnormalities. In the last decade, mutations in KMT2D and KDM6A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb98025bcde8087c27465afe3e28b583
https://hal.umontpellier.fr/hal-02573243/file/IRMB_156_main.pdf
https://hal.umontpellier.fr/hal-02573243/file/IRMB_156_main.pdf
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⟩
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
Autor:
Emmanuelle Taupiac, Yline Capri, Clarisse Baumann, Sophie Bayard, Natacha Lehman, Isabelle Touitou, Nathalie Boddaert, Myriam Mikaty, Damien Sanlaville, Anne Claire Mazery, Laurence Faivre, Marlène Rio, Marie Line Jacquemont, Sébastien Moutton, Kim‐Hanh Le Qang Sang, Marie Christine Picot, Elodie Sanchez, Delphine Minot, Annick Toutain, Vincent Gatinois, David Geneviève, Didier Lacombe, Sylvie Odent, Dominique Lachesnais, Elise Schaefer, Antoine Visier, Jeanne Amiel, Cyril Goizet, Honorine Kayirangwa, Stanislas Lyonnet
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, 2017,. <10.1111/cge.13010>
Clinical Genetics, 2017, 92 (3), pp.298-305. ⟨10.1111/cge.13010⟩
Clinical Genetics, Wiley, 2017, 92 (3), pp.298-305. ⟨10.1111/cge.13010⟩
Clinical Genetics, Wiley, 2017,
Clinical Genetics, 2017, 92 (3), pp.298-305. ⟨10.1111/cge.13010⟩
Clinical Genetics, Wiley, 2017, 92 (3), pp.298-305. ⟨10.1111/cge.13010⟩
IF 3.326; International audience; Kabuki syndrome (KS-OMIM 147920) is a rare developmental disease characterized by the association of multiple congenital anomalies and intellectual disability. This study aimed to investigate intellectual performance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::959cd04a7b82979e880bc6e6e19468ab
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01560204
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01560204