Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Nadège Gigot"'
Autor:
Nadège Gigot, Julie Désir, Jean-Baptiste Rivière, Marie Gonzales, N. Joye, Bernard Aral, Dominique D'Olne, Frédérique Jossic, Caroline Daelemans, Anne-Lise Delezoide, Valérie Cormier-Daire, Alice Masurel-Paulet, Annick Toutain, Claude Vibert-Guigue, Judith Saint-Onge, Julien Thevenon, Sébastien Schmitt, Jean-Marc Labaune, Laurence Faivre, Antonin Lamaziere, Fabienne Dufernez, Fanny Pelluard, Nicole Bigi, Mathilde Lefebvre, Thierry Rousseau, Raphaele Mangione, Pierre Vabres, P. Herve, Sophie Blesson, Ange-Line Bruel, Luc Rigonnot, Christel Thauvin-Robinet, Salima El Chehadeh, Nicole Laurent, Catherine Vincent-Delorme
Publikováno v:
Prenatal Diagnosis. 35:675-684
ObjectivesConradi-Hunermann-Happle [X-linked dominant chondrodysplasia punctata 2 (CDPX2)] syndrome is a rare X-linked dominant skeletal dysplasia usually lethal in men while affected women show wide clinical heterogeneity. Different EBP mutations ha
Autor:
Nadège Gigot, Anne Dieux, Yannis Duffourd, Bernard Aral, Lydie Burglen, Bérénice Doray, Olivier Rosnet, Alice Goldenberg, Martijn A. Huynen, Oliver E. Blacque, Brunella Franco, André Mégarbané, Diane Doummar, Ernie M.H.F. Bongers, Anne Fargeot-Espaliat, Clarisse Baumann, Judith St-Onge, Daniel Birnbaum, Sophie Saunier, Thibaut Eguether, Jean-François Deleuze, Estelle Lopez, Dominique Gaillard, Geneviève Pierquin, Shubha R. Phadke, Michel R. Leroux, Rachel H. Giles, Tania Attié-Bitach, Jaclyn S. Goldstein, Isabelle Desguerres, Elisabeth Steichen-Gersdorf, Brigitte Gilbert-Dussardier, Manuela Morleo, Jesús Argente, Jean Baptiste Rivière, Gregory J. Pazour, Christel Thauvin-Robinet, Julien Thevenon, Albert David, Maxence V. Nachury, Laurence Faivre, Philippe Loget, Véronique Chevrier, Bruno Reversade, Laurence Jego, Ange Line Bruel, Vicente Herranz-Pérez, Laurent Pasquier, Colin A. Johnson, John B. Wallingford, Valérie Cormier-Daire, Inusha Panigrahi
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, 2017, 54 (6), pp.371-380. ⟨10.1136/jmedgenet-2016-104436⟩
Bruel, A-L; Franco, B; Duffourd, Y; Thevenon, J; Jego, L; Lopez, E; et al.(2017). Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. JOURNAL OF MEDICAL GENETICS, 54(6), 371-380. doi: 10.1136/jmedgenet-2016-104436. UCSF: Retrieved from: http://www.escholarship.org/uc/item/6vw2q34w
Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (6), pp.371-380. 〈10.1136/jmedgenet-2016-104436〉
JOURNAL OF MEDICAL GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (6), pp.371-380. ⟨10.1136/jmedgenet-2016-104436⟩
Journal of Medical Genetics, 54, 6, pp. 371-380
Journal of Medical Genetics, 54, 371-380
Journal of Medical Genetics, 2017, 54 (6), pp.371-380. ⟨10.1136/jmedgenet-2016-104436⟩
Bruel, A-L; Franco, B; Duffourd, Y; Thevenon, J; Jego, L; Lopez, E; et al.(2017). Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. JOURNAL OF MEDICAL GENETICS, 54(6), 371-380. doi: 10.1136/jmedgenet-2016-104436. UCSF: Retrieved from: http://www.escholarship.org/uc/item/6vw2q34w
Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (6), pp.371-380. 〈10.1136/jmedgenet-2016-104436〉
JOURNAL OF MEDICAL GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (6), pp.371-380. ⟨10.1136/jmedgenet-2016-104436⟩
Journal of Medical Genetics, 54, 6, pp. 371-380
Journal of Medical Genetics, 54, 371-380
Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e3936f44f5b3a91a3dfb197d651c272
https://doi.org/10.1136/jmedgenet-2016-104436
https://doi.org/10.1136/jmedgenet-2016-104436
Autor:
Christel Thauvin, Marie Hélène Aubriot-Lorton, Nadège Gigot, Nathalie Marle, Bernard Aral, Laurence Duplomb, Alain Sarasin, Julien Thevenon, Valeria Naim, Jean-Baptiste Rivière, Jean Benoît Courcet, Pierre Vabres, Jamal Eddin Abrid, Mariam Tajir, Laurence Faivre, Emilie Courcet-Degrolard, Siham Chafai Elalaoui, Laurent Martin, Abdelaziz Sefiani, Yannis Duffourd
Publikováno v:
European Journal of Human Genetics. 23:957-962
SASH1 (SAM and SH3 domain-containing protein 1) is a tumor suppressor gene involved in the tumorigenesis of a spectrum of solid cancers. Heterozygous SASH1 variants are known to cause autosomal-dominant dyschromatosis. Homozygosity mapping and whole-
Autor:
Nadège Gigot, Valeria Capra, Annick Toutain, Alice Goldenberg, Geneviève Pierquin, Nicole Philip, Odile Boute, S. Gauthier, Mariam Tajir, Yves Sznajer, Muriel Holder-Espinasse, Loreto Martorell, Laurence Faivre, J. Piard, Jean-Benoît Courcet, Christine Francannet, Cédric Baumann, Philippe Parent, Valérie Cormier-Daire, Michael Wright, N. Didonato, Marie-Pierre Cordier, David Geneviève, Didier Bessis, Ana Berta Sousa, Laurent Pasquier, Angela F. Brady, F. Boralevi, Siham Chafai Elalaoui, André Mégarbané, Bernard Aral, Edward Blair, Christine Bodemer, Eve Puzenat, B. Demeer, M. Tardieu, Corinne Collet, V. Barlogis, C. Thauvin-Robinet, Marlène Rio, Christine Coubes, Pierre Vabres, Geneviève Baujat, J. Franques, Patrick Callier, Jean-Baptiste Rivière, María Antonia González-Enseñat, Julien Thevenon, Olga Domnica Moldovan, A. Rodríguez
Publikováno v:
Clinical Genetics. 87:244-251
Three overlapping conditions, namely Rothmund-Thomson (RTS), Baller-Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations. Differential diagnoses depend on the clinical presentation, but the numbers of known genes remain low
Autor:
Julien Thevenon, Judith St-Onge, Bernard Aral, Patrick Callier, Salima El Chehadeh, Pierre Sarda, Christian P. Hamel, Virginie Carmignac, Frédéric Huet, Nathalie Droin, Lucie Gueneau, Laurence Duplomb, Christel Thauvin-Robinet, Laurence Faivre, Nadège Gigot
Publikováno v:
American Journal of Medical Genetics Part A. 164:522-527
Over one hundred VPS13B mutations are reported in Cohen syndrome (CS). Most cases exhibit a homogeneous phenotype that includes intellectual deficiency (ID), microcephaly, facial dysmorphism, slender extremities, truncal obesity, progressive choriore
Autor:
Bernard Aral, Nadège Gigot, François-Guillaume Debray, Alice Masurel-Paulet, Patrick Rump, Christel Thauvin-Robinet, Frédéric Huet, Muriel Holder-Espinasse, Marlène Rio, Laurence Duplomb, Patrick Callier, Edward Blair, Anne-Marie Frances, Salima El Chehadeh-Djebbar, Anne Moncla, Laurence Faivre
Publikováno v:
European Journal of Human Genetics, 21(7), 736-742. Nature Publishing Group
Cohen syndrome (CS) is a rare autosomal recessive condition caused by mutations and/or large rearrangements in the VPS13B gene. CS clinical features, including developmental delay, the typical facial gestalt, chorioretinal dystrophy (CRD) and neutrop
A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability
Autor:
Emilie Pallesi-Pocachard, Judith St-Onge, Hany Goubran Botros, Carlos Cardoso, C. Henry, Nadège Gigot, Julien Thevenon, Patrick Callier, Anne-Laure Mosca-Boidron, Alice Masurel-Paulet, Richard Delorme, Christel Thauvin-Robinet, Clémence Ragon, Guillaume Dumas, Jean-Baptiste Rivière, Pascal Chambon, Alice Goldenberg, Muriel Payet, Jean-Michel Pinoit, Dominique Campion, Sophie Calderari, Thomas Bourgeron, Yannis Duffourd, Francine Mugneret, Pascale Saugier-Veber, Lucie Gueneau, Laurence Duplomb, Nathalie Lagarde, Laurence Faivre, Guillaume Huguet, Nathalie Marle, Antonio Falace, Antoine Rosier, Julien Buratti
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 2016, 24 (6), pp.838-43. ⟨10.1038/ejhg.2015.211⟩
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.838-43. ⟨10.1038/ejhg.2015.211⟩
European Journal of Human Genetics 6 (24), 838-843. (2016)
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.838-43. 〈http://www.nature.com/ejhg/journal/v24/n6/full/ejhg2015211a.html〉. 〈10.1038/ejhg.2015.211〉
European Journal of Human Genetics, 2016, 24 (6), pp.838-43. ⟨10.1038/ejhg.2015.211⟩
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.838-43. ⟨10.1038/ejhg.2015.211⟩
European Journal of Human Genetics 6 (24), 838-843. (2016)
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.838-43. 〈http://www.nature.com/ejhg/journal/v24/n6/full/ejhg2015211a.html〉. 〈10.1038/ejhg.2015.211〉
Semaphorins are a large family of secreted and membrane-associated proteins necessary for wiring of the brain. Semaphorin 5A (SEMA5A) acts as a bifunctional guidance cue, exerting both attractive and inhibitory effects on developing axons. Previous s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7fe68523fb46bd60109a6523a540980
https://doi.org/10.1038/ejhg.2015.211
https://doi.org/10.1038/ejhg.2015.211
Autor:
Martine Raynaud, L. Van Maldergem, Bernard Aral, Lydie Burglen, Tania Attié-Bitach, R. Touraine, Sylvie Rossignol, Martine Sinico, Laurence Faivre, Sophie Thomas, Christel Thauvin-Robinet, Catherine Badens, Brunella Franco, Estelle Escudier, Nathalie Boddaert, Hélène Dollfus, Michel Vekemans, Nadège Gigot, Arnold Munnich, Estelle Lopez, Cathy Philippe, Céline Gomes, Férechté Encha-Razavi, Stanislas Lyonnet, Nadia Elkhartoufi
Publikováno v:
Clinical Genetics. 84:86-90
Autor:
Julien Thevenon, Christel Thauvin-Robinet, Yannis Duffourd, Jean-Baptiste Rivière, Laurent Morisse, Anne Minello, Fabienne Prieur, Nadège Gigot, Boris Guiu, Jean-Pierre Cerceuil, Laurence Faivre, Alain Beurdeley, Daniel Meynard, Denis Massenet, Judith St-Onge, Emmanuel Jacquemin, Claire Vanlemmens, Patrick Hillon, Laurence Michel-Calemard, Jean-Marc Phelip, Christiane Mousson, Flore Lacassin, Jean-Benoît Courcet
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2015, 167 (12), pp.3046-3053. ⟨10.1002/ajmg.a.37352⟩
American Journal of Medical Genetics Part A, Wiley, 2015, 167 (12), pp.3046-3053. ⟨10.1002/ajmg.a.37352⟩
International audience; Ductal plate malformations (DPM) present with a wide phenotypic spectrum comprising Von Meyenburg complexes (VMC), Caroli disease (CD), Caroli syndrome (CS), and autosomal recessive polycystic kidney disease (ARPKD). Variants
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9537781204993b99c82f820739936023
https://hal.umontpellier.fr/hal-01946529
https://hal.umontpellier.fr/hal-01946529
Autor:
Eric Bieth, Alice Masurel-Paulet, Bernard Aral, Nadège Gigot, Brunella Franco, Anne Donzel, Mario Tosi, Lionel Van Maldergem, Elodie Gautier, Frédéric Huet, Laurence Faivre, Jean-Raymond Teyssier, Ahmad S. Teebi, Pascale Saugier-Veber, Patrick Callier, Valérie Layet, Thierry Frebourg, James Lespinasse, Francine Mugneret, Christel Thauvin-Robinet, Michèle Mathieu
Publikováno v:
Human Mutation. 30:E320-E329
Oral-facial-digital type I syndrome (OFDI) is characterised by an X-linked dominant mode of inheritance with lethality in males. Clinical features include facial dysmorphism with oral, dental and distal abnormalities, polycystic kidney disease and ce