Kết quả tìm kiếm - Nadège Gigot
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1
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma Bằng Jean- Benoît Courcet, Siham Chafai Elalaoui, Laurence Duplomb, Mariam Tajir, Jean‐Baptiste Rivière, Julien Thévenon, Nadège Gigot, Nathalie Marle, Bernard Aral, Yannis Duffourd, Alain Sarasin, Valeria Naim, Emilie Courcet-Degrolard, Marie Hélène Aubriot-Lorton, Laurent Martin, Jamal Eddin Abrid, Christel Thauvin, Abdelaziz Sefiani, P. Vabres, Laurence Faivre
Được phát hành 2014Artigo -
2
Cohen syndrome is associated with major glycosylation defects Bằng Laurence Duplomb, Sandrine Duvet, Damien Picot, Gaëtan Jégo, Salima El Chehadeh-Djebbar, Nathalie Marle, Nadège Gigot, Bernard Aral, Virginie Carmignac, Julien Thévenon, Estelle Lopez, Jean‐Baptiste Rivière, André Klein, Christophe Philippe, Nathalie Droin, Edward Blair, François Girodon, Jean Donadieu, Christine Bellanné‐Chantelot, Laurent Delva, Jean‐Claude Michalski, Éric Solary, Laurence Faivre, François Foulquier, Christel Thauvin‐Robinet
Được phát hành 2013Artigo -
3
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation Bằng Christel Thauvin‐Robinet, Jaclyn S Lee, Estelle Lopez, Vicente Herranz‐Pérez, Toshinobu Shida, Brunella Franco, Laurence Jego, Fan Ye, Laurent Pasquier, Philippe Loget, Nadège Gigot, Bernard Aral, Carla A.M. Lopes, Judith St‐Onge, Ange‐Line Bruel, Julien Thévenon, Susana González-Granero, Caroline Alby, Arnold Münnich, Michel Vekemans, Frédéric Huet, Andrew M. Fry, Sophie Saunier, Jean‐Baptiste Rivière, Tania Attié‐Bitach, José Manuel García‐Verdugo, Laurence Faivre, André Mégarbané, Maxence V. Nachury
Được phát hành 2014Artigo -
4
A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability Bằng Anne‐Laure Mosca‐Boidron, Lucie Gueneau, Guillaume Huguet, Alice Goldenberg, Céline Henry, Nadège Gigot, Emilie Pallesi‐Pocachard, Antonio Falace, Laurence Duplomb, Julien Thévenon, Yannis Duffourd, Judith St‐Onge, Pascal Chambon, Jean‐Baptiste Rivière, Christel Thauvin‐Robinet, Patrick Callier, Nathalie Marle, Muriel Payet, Clémence Ragon, Hany Goubran Botros, Julien Buratti, Sophie Caldérari, Guillaume Dumas, Richard Delorme, Nathalie Lagarde, Jean‐Michel Pinoit, Antoine Rosier, Alice Masurel‐Paulet, Carlos Cardoso, Francine Mugneret, Pascale Saugier‐Veber, Dominique Campion, Laurence Faivre, Thomas Bourgeron
Được phát hành 2015Artigo -
5
In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome Bằng Virginie Carmignac, Julien Thevenon, Lesley C. Adès, Bert Callewaert, Sophie Julia, Christel Thauvin‐Robinet, Lucie Gueneau, Jean‐Benoît Courcet, Estelle Lopez, Katherine Holman, Marjolijn Renard, Henri Plauchu, Ghislaine Plessis, Julie De Backer, Anne H. Child, Gavin Arno, Laurence Duplomb, Patrick Callier, Bernard Aral, P. Vabres, Nadège Gigot, Eloisa Arbustini, Maurizia Grasso, Peter N. Robinson, Cyril Goizet, Clarisse Baumann, Maja Di Rocco, Jaime Sánchez del Pozo, Frédéric Huet, Guillaume Jondeau, Gwenaëlle Collod‐Béroud, Christophe Béroud, Jeanne Amiel, Valérie Cormier‐Daire, Jean‐Baptiste Rivière, Cathérine Boileau, Anne De Paepe, Laurence Faivre
Được phát hành 2012Artigo -
6
Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes Bằng Ange-Line Bruel, Brunella Franco, Yannis Duffourd, Julien Thévenon, Laurence Jego, Estelle Lopez, Jean‐François Deleuze, Diane Doummar, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Véronique Chevrier, Lydie Bürglen, Manuela Morleo, Isabelle Desguerres, Geneviève Pierquin, Bérénice Doray, Brigitte Gilbert‐Dussardier, Bruno Reversade, Elisabeth Steichen‐Gersdorf, Clarisse Baumann, Inusha Panigrahi, Anne Fargeot-Espaliat, Anne Dieux, Albert David, Alice Goldenberg, Ernie M.H.F. Bongers, Dominique Gaillard, Jesús Argente, Bernard Aral, Nadège Gigot, Judith St‐Onge, Daniel Birnbaum, Shubha R. Phadke, Valérie Cormier‐Daire, Thibaut Eguether, Gregory J. Pazour, Vicente Herranz‐Pérez, Jaclyn S. Goldstein, Laurent Pasquier, Philippe Loget, Sophie Saunier, André Mégarbané, Olivier Rosnet, Michel R. Leroux, John B. Wallingford, Oliver E. Blacque, Maxence V. Nachury, Tania Attié‐Bitach, Jean‐Baptiste Rivière, Laurence Faivre, Christel Thauvin‐Robinet
Được phát hành 2017Revisão
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Các môn học liên quan
Biology
Gene
Genetics
Exome sequencing
Medicine
Mutation
Phenotype
Cell biology
Cilium
Allele
Arachnodactyly
Autism
Autism spectrum disorder
Biochemistry
Brefeldin A
Camptodactyly
Cell cycle
Centriole
Centrosome
Chromosomal translocation
Chromosome
Ciliogenesis
Ciliopathies
Ciliopathy
Compound heterozygosity
Dermatology
Disease gene identification
Endoplasmic reticulum
Endosome
Exon