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Finger creases lend a hand in Kabuki syndrome.
Caroline Michot
,
Carole Corsini
,
Damien Sanlaville
,
Clarisse Baumann
,
Annick Toutain
,
et al.
Journal articles
hal-00916763v1
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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.
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.
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 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.
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.
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.
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.
Journal articles
hal-01670058v1
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Dysspondyloenchondromatosis without COL2A1 mutation: Possible genetic heterogeneity
Frederic Tran Mau-Them
,
Aurélia Boualam
,
Mouna Barat-Houari
,
Claire Jeandel
,
Jérôme Cottalorda
,
et al.
Journal articles
istex
hal-03135110v1
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