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Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
Salima El Chehadeh
,
Julien Thevenon
,
Paul Kuentz
,
Ange-Line Bruel
,
Christel Thauvin-Robinet
et al.
Article dans une revue
hal-01464336v1
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Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
Aurélien Juven
,
Sophie Nambot
,
Amélie Piton
,
Nolwenn Jean-Marçais
,
Alice Masurel
et al.
Article dans une revue
hal-02883449v1
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Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability
Alexandra Gauthier-Vasserot
,
Christel Thauvin-Robinet
,
Ange-Line Bruel
,
Yannis Duffourd
,
Judith Saint-Onge
et al.
Article dans une revue
hal-01410416v1
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Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech
F. Bonnet
,
A Andrieux
,
D Béri-Dexheimer
,
L Leheup
,
B Boute
et al.
Article dans une revue
hal-02128729v1
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Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
Isabelle Perrault
,
Nathalie Delphin
,
Sylvain Hanein
,
Sylvie Gerber
,
Jean-Louis Dufier
et al.
Article dans une revue
hal-00346360v1
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Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features
Salima El Chehadeh
,
Julien Thevenon
,
Jean-Baptiste Rivière
,
Yannis Duffourd
,
Laurence Faivre
et al.
Article dans une revue
istex
hal-01457570v1
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Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations
Natacha Lehman
,
Anne-Claire Mazery
,
Antoine Visier
,
Clarisse Baumann
,
Dominique Lachesnais
et al.
Article dans une revue
hal-01560204v1
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Delineating FOXG1 syndrome
Nancy Vegas
,
Mara Cavallin
,
Camille Maillard
,
Nathalie Boddaert
,
Joseph Toulouse
et al.
Article dans une revue
hal-01920261v1
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Pseudohypoparathyroïdie : Distorsion du ratio de transmission maternelle des mutations perte de fonction de GNAS
Sarah Snanoudj
,
Arnaud Molin
,
Cindy Colson
,
Nadia Coudray
,
Sylvie Paulien
et al.
10èmes Assises de Génétique Humaine et Médicale, Jan 2020, Tours, France
Communication dans un congrès
hal-02436511v1
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Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.
Estelle Lopez
,
Patrick Callier
,
Valérie Cormier-Daire
,
Didier Lacombe
,
Anne Moncla
et al.
Article dans une revue
istex
inserm-00662892v1
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Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
Salima El Chehadeh
,
Nathalie Marle
,
Patrick Callier
,
Anne-Laure Mosca-Boidron
,
Francine Mugneret
et al.
Article dans une revue
hal-01452730v1
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