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authFullName_s : Dominique Martin-Coignard
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Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains

Philippe Khau van Kien , David Baux , Nathalie Pallares-Ruiz , Corinne Baudoin , Aurélie Plancke , et al.
Human Mutation, 2010, 31 (1), pp.E1021 - E1042. ⟨10.1002/humu.21131⟩
Journal articles hal-01669921v1

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

Vincent Laugel , Cécile Dalloz , M. Durand , Florence Sauvanaud , Hans-Ulrik Kristensen , et al.
Human Mutation, 2010, 31 (2), pp.113-26. ⟨10.1002/humu.21154⟩
Journal articles inserm-00436454v1

TCF4 deletions in Pitt-Hopkins Syndrome.

Irina Giurgea , Chantal Missirian , Pierre Cacciagli , Sandra Whalen , Tessa Fredriksen , et al.
Human Mutation, 2008, 29 (11), pp.E242-51. ⟨10.1002/humu.20859⟩
Journal articles inserm-00325404v1
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Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.

Christèle Dubourg , Damien Sanlaville , Martine Doco-Fenzy , Cédric Le Caignec , Chantal Missirian , et al.
European Journal of Medical Genetics, 2011, 54 (2), pp.144-51. ⟨10.1016/j.ejmg.2010.11.003⟩
Journal articles inserm-00541962v1

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.

Sylvie Jaillard , Séverine Drunat , Claude Bendavid , Azzedine Aboura , Amandine Etcheverry , et al.
European Journal of Medical Genetics, 2010, 53 (2), pp.66-75. ⟨10.1016/j.ejmg.2009.10.002⟩
Journal articles istex inserm-00434932v1
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A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Anne-Claude Tabet , Thomas Rolland , Marie Ducloy , Jonathan Levy , Julien Buratti , et al.
Genomic Medicine, 2017, 2, pp.32. ⟨10.1038/s41525-017-0035-2⟩
Journal articles hal-01738521v1
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Molecular analysis of Pericentrin gene (PCNT) in a series of 24 Seckel/ MOPD II families

M. Willems , D Geneviève , G Borck , Clarisse Baumann , G Baujat , et al.
Journal of Medical Genetics, 2009, 47 (12), pp.jmg.2009.067298v2. ⟨10.1136/jmg.2009.067298⟩
Journal articles istex hal-00552695v1
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Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

Marine Legendre , Véronique Abadie , Tania Attié-Bitach , Nicole Philip , Tiffany Busa , et al.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2017, 175 (4), pp.417 - 430. ⟨10.1002/ajmg.c.31591⟩
Journal articles hal-01691932v1