Valérie CORMIER‑DAIRE
Pathophysiological basis of skeletal dysplasias
Team
Scientific Publications
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2022Journal (source)J Med Genet.Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.
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2021Journal (source)Int J Mol Sci 2021
Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia.
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2020Journal (source)J. Bone Miner. Res.
Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe...
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Journal (source)Ther Adv Endocrinol Metab. 2020
New perspectives on the treatment of skeletal dysplasia.
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2018Journal (source)FASEB J
Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency.
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2018Journal (source)Nat Commun.
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med...
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2018Journal (source)Eur J Hum Genet
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodyso...
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2018Journal (source)J Med Genet
mutations are responsible for autosomal recessive osteogenesis imperfecta.
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2014Journal (source)Am J Hum Genet
XYLT1 mutations in Desbuquois dysplasia type 2.
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2013Journal (source)Am J Hum Genet
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asp...
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2009Journal (source)Am J Hum Genet
Identification of CANT1 mutations in Desbuquois dysplasia.
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Journal (source)Brain. 2022
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelina...