Zobrazeno 31 - 40
of 68
pro vyhledávání: '"Anne-Laure Mosca-Boidron"'
Autor:
Nathalie Marle, Muriel Holder-Espinasse, C. Ragon, P. Callier, Anne Dieux-Coeslier, Anne-Laure Mosca-Boidron, Philippe Jonveaux, Joris Andrieux, Catherine Vincent-Delorme, Muriel Payet, Brigitte Benzacken, Francine Mugneret, E Questiaux, Ghislaine Plessis, Eva Pipiras, C. Thauvin-Robinet, Alice Masurel-Paulet, Sonia Bouquillon, Andrée Delahaye, C Bonnet, Sylvie Manouvrier-Hanu, M Berri, Laurence Faivre
Publikováno v:
Clinical Genetics. 82:41-47
Most microdeletion syndromes identified before the implementation of array-comparative genomic hybridization (array-CGH) were presumed to be well-defined clinical entities. However, the introduction of whole-genome screening led not only to the descr
Autor:
Frédéric Huet, Lucie Gueneau, Christel Thauvin-Robinet, Jean-Michel Pinoit, Patrick Callier, Laurence Faivre, Francine Mugneret, C. Henry, Muriel Payet, Nathalie Marle, Philippe Jonveaux, Mylène Valduga, Mylène Béri-Deixheimer, Nathalie Lagarde, Clémence Ragon, Anne-Laure Mosca-Boidron
Publikováno v:
American Journal of Medical Genetics Part A. 161:1505-1507
Autor:
Vincent des Portes, Salima El Chehadeh, Odile Boespflug-Tanguy, Nathalie Marle, Charles Coutton, Didier Lacombe, Patrick Callier, Anne Moncla, Mathilde Nizon, Christine Francannet, Marlène Rio, Valérie Cormier-Daire, Jean-Paul Bonnefont, Pierre-Simon Jouk, Anne-Laure Mosca-Boidron, Christophe Philippe, Alice Goldenberg, Hubert Journel, Mathilde Lefebvre, Bertrand Isidor, Bernard Echenne, Séverine Drunat, Françoise Devillard, Sébastien Lebon, Jeanne Amiel, Nicole Philip, Jean-Marie Cuisset, Nathalie Perreton, Marie-Claude Addor, Fabienne Prieur, Christel Thauvin-Robinet, Laurent Pasquier, Sophie Julia, Christèle Dubourg, Danièle Martinet, Laurent Guibaud, Laetitia Lambert, Jeanne Andrieux, Cédric Le Caignec, Catherine Badens, Catherine Sarret, Alice Masurel, Julien Thevenon, Renaud Touraine, Ghislaine Plessis, Fanny Laffargue, Lydie Burglen, Laurence Perrin, Bruno Leheup, Thierry Bienvenu, Valérie Malan, Alexandra Afenjar, Albert David, Clarisse Baumann, Marie-Ange Delrue, Jacqueline Vigneron, Annick Toutain, Laurence Faivre
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, 2016, 170 (1), pp.116-129. ⟨10.1002/ajmg.a.37384⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (1), pp.116-129. ⟨10.1002/ajmg.a.37384⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (1), pp.116-129. 〈10.1002/ajmg.a.37384〉
American Journal of Medical Genetics Part A, 2016, 170 (1), pp.116-129. ⟨10.1002/ajmg.a.37384⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (1), pp.116-129. ⟨10.1002/ajmg.a.37384⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (1), pp.116-129. 〈10.1002/ajmg.a.37384〉
International audience; Xq28 duplications encompassing MECP2 have been described in male patients with a severe neurodevelopmental disorder associated with hypotonia and spasticity, severe learning disability, stereotyped movements, and recurrent pul
Autor:
M. Béri, Philippe Jonveaux, S. El Chehadeh, P. Callier, Julien Thevenon, Céline Bonnet, Muriel Payet, Alice Masurel-Paulet, Clémence Ragon, N. Seta, Laurence Faivre, Anne-Laure Mosca-Boidron, C. Thauvin-Robinet, Francine Mugneret, T. Dupré, Laurence Duplomb, Nathalie Marle
Publikováno v:
JIMD Reports ISBN: 9783662466995
Intellectual disability (ID), which affects around 2–3% of the general population, is classically divided into syndromic and nonsyndromic forms, with several modes of inheritance. Nonsyndromic autosomal recessive ID (NS-ARID) appears extremely hete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3045b93c5e87c49eedccb6de8f1da7b
https://doi.org/10.1007/8904_2014_390
https://doi.org/10.1007/8904_2014_390
Autor:
Hélène Poquet, Iben Bache, Bruno Vergès, Patrick Callier, Maria Luigia Cavaliere, Stanislas Lyonnet, Jean Paul Girod, Alice Masurel-Paulet, Valérie Malan, Anne Laure Mosca-Boidron, Nathalie Marle, Laurence Faivre, Antonio Novelli, Björn Menten, Julien Thevenon, Bart Loeys, Christel Thauvin-Robinet, Salima El Chehadeh, Frédéric Huet, Zeynep Tümer, Jean-Michel Petit, Jean Michel Pinoit, Francine Mugneret
Publikováno v:
Journal of medical genetics
Background Since the advent of array-CGH, numerous new microdeletional syndromes have been delineated while others remain to be described. Although 3q29 subtelomeric deletion is a well-described syndrome, there is no report on 3q interstitial deletio
Autor:
Julien Thevenon, C. Thauvin-Robinet, Anne-Laure Mosca-Boidron, Frédéric Huet, Laurence Faivre, Thierry Rousseau, Patrick Callier, Muriel Payet, Paul Sagot, Clémence Ragon, Serge Aho, Nathalie Marle, Salima El Chehadeh, Caroline Truntzer, Francine Mugneret
Publikováno v:
PLoS ONE
PLoS ONE, Vol 8, Iss 4, p e59956 (2013)
PLoS ONE, Vol 8, Iss 4, p e59956 (2013)
The aim of this study was to develop an improved technique for DNA extraction from 1 ml of uncultured AF from patients with a gestational age less than 16 weeks and to allow the use of array-CGH without DNA amplification. The DNA extraction protocol
Autor:
Laurence Duplomb, Nadège Gigot, Jean-Benoît Courcet, Anne-Laure Mosca-Boidron, Perrine Malzac, Laurence Faivre, Nathalie Marle, Laetitia Lambert, Estelle Lopez, Clémence Ragon, Christel Thauvin-Robinet, Martine Lemesle, Anne Moncla, Alice Masurel-Paulet, Patrick Callier, Christophe Philippe, Julien Thevenon, Frédéric Huet
Publikováno v:
Journal of medical genetics. 49(12)
Background DYRK1A plays different functions during development, with an important role in controlling brain growth through neuronal proliferation and neurogenesis. It is expressed in a gene dosage dependent manner since dyrk1a haploinsufficiency indu
Autor:
Anne-Laure Mosca-Boidron, Hanna D. Hove, Susanne Kjaergaard, Patrick Callier, Francine Mugneret, Maria Kirchhoff, Laurence Faivre, Nathalie Marle, Christel Thauvin-Robinet, Magali Avila, Alice Masurel, Mondher Chouchane
Publikováno v:
American journal of medical genetics. Part A. (7)
We report on three males with de novo overlapping 7.5, 9.8, and 10 Mb duplication of chromosome 20q11.2. Together with another patient previously published in the literature with overlapping 20q11 microduplication, we show that such patients display
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
Autor:
Anne-Laure Mosca-Boidron, Laurence Faivre, Veronica Cusin, Nadège Gigot, Salima El Chehadeh-Djebbar, Clémence Ragon, Frédéric Huet, Anne Moncla, Muriel Payet, Cornel Popovici, Anthonie J. van Essen, Bernard Aral, Christel Thauvin-Robinet, Alice Masurel-Paulet, Lucie Gueneau, Patrick Rump, Francine Mugneret, Patrick Callier, Nathalie Marle, Chantal Missirian, Jean-Raymond Teyssier, Irina Balikova, Anne-Marie Frances
Publikováno v:
JOURNAL OF MEDICAL GENETICS, 48(11):1. BMJ PUBLISHING GROUP
We read with interest the article by Rivera-Brugues et al 1 in a recent issue of this journal describing 3 patients out of 1523 patients with unexplained mental retardation. Analysis by whole genome array-CGH (comparative genomic hybridisation) showe