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authFullName_s : Martine Le Merrer
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Finger creases lend a hand in Kabuki syndrome.

Caroline Michot , Carole Corsini , Damien Sanlaville , Clarisse Baumann , Annick Toutain , et al.
European Journal of Medical Genetics, 2013, 56 (10), pp.556-560. ⟨10.1016/j.ejmg.2013.07.005⟩
Journal articles hal-00916763v1

Les tests génétiques à l'heure de la deuxième révision des lois de bioéthique. [Genetic testing in the context of the revision of the French law on bioethics].

Dominique Bonneau , Sandrine Marlin , Damien Sanlaville , Jean-Michel Dupont , Hagay Sobol , et al.
Pathologie Biologie, 2010, 58 (5), pp.396-401. ⟨10.1016/j.patbio.2009.12.002⟩
Journal articles istex inserm-00461832v1
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Asphyxiating Thoracic Dysplasia: clinical and molecular review of 42 families

Valérie Cormier-Daire , Céline Huber , Geneviève Baujat , R Caumes , Honorine Kayirangwa , et al.
First International Cilia in Development and Disease Scientific Conference, pp.O4
Conference papers inserm-00752961v1
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Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene

Isabelle Perrault , Sophie Saunier , Sylvain Hanein , Emile Filhol , Albane A. Bizet , et al.
First International Cilia in Development and Disease Scientific Conference, pp.O28
Conference papers inserm-00752958v1
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In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

Laurence Faivre , J. R. Gorlin , M. K. Wirtz , Maurice Godfrey , N. Dagoneau , et al.
Journal of Medical Genetics, 2003, 40 (1), pp.34-6
Journal articles inserm-00143439v1
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Growth charts in Kabuki syndrome 1

Valentin Ruault , Carole Corsini , Claire Duflos , Sandrine Akouete , Véra Georgescu , et al.
American Journal of Medical Genetics Part A, 2019, 182 (3), pp.446-453. ⟨10.1002/ajmg.a.61462⟩
Journal articles hal-03388687v1
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MOLECULAR SCREENING OF ADAMTSL2 GENE IN 33 PATIENTS REVEALS THE GENETIC HETEROGENEITY OF GELEOPHYSIC DYSPLASIA

Slimane Allali , Carine Le Goff , Isabelle Pressac-Diebold , Gwendolyne Pfenning , Clã©mentine Mahaut , et al.
Journal of Medical Genetics, 2011, 48 (6), pp.417. ⟨10.1136/jmg.2010.087544⟩
Journal articles hal-00614843v1
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Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation

David Genevieve , Delphine Héron , Vincent El Ghouzzi , Catherine Prost-Squarcioni , Martine Le Merrer , et al.
European Journal of Human Genetics, 2005, 13 (5), pp.541-546. ⟨10.1038/sj.ejhg.5201339⟩
Journal articles hal-02342690v1
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New insights into genotype-phenotype correlation for GLI3 mutations

Florence Démurger , Amale Ichkou , Soumaya Mougou-Zerelli , Martine Le Merrer , Géraldine Goudefroye , et al.
European Journal of Human Genetics, 2015, 23 (1), pp.92-102. ⟨10.1038/ejhg.2014.62⟩
Journal articles hal-01064583v1
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Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders

David Attias , Chantal Stheneur , Carine Roy , Gwenaëlle Collod-Béroud , Delphine Detaint , et al.
Circulation, 2009, 120 (25), pp.2541 - 2549. ⟨10.1161/CIRCULATIONAHA.109.887042⟩
Journal articles hal-01669916v1
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Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

Carine Le Goff , Clementine C. Mahaut , Lauren W Wang , Slimane Allali , Avinash Abhyankar , et al.
American Journal of Human Genetics, 2011, 89 (1), pp.7 - 14. ⟨10.1016/j.ajhg.2011.05.012⟩
Journal articles hal-01670058v1

Dysspondyloenchondromatosis without COL2A1 mutation: Possible genetic heterogeneity

Frederic Tran Mau-Them , Aurélia Boualam , Mouna Barat-Houari , Claire Jeandel , Jérôme Cottalorda , et al.
American Journal of Medical Genetics Part A, 2014, 164 (3), pp.769-773. ⟨10.1002/ajmg.a.36331⟩
Journal articles istex hal-03135110v1