Cormier-Daire V - Search Results

1

Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.

Costantini A, Alm JJ, Tonelli F, Valta H, Huber C, Tran AN, Daponte V, Kirova N, Kwon YU, Bae JY, Chung WY, Tan S, Sznajer Y, Nishimura G, Näreoja T, Warren AJ, Cormier-Daire V, Kim OH, Forlino A, Cho TJ, Mäkitie O. Costantini A, et al. J Bone Miner Res. 2021 Feb;36(2):283-297. doi: 10.1002/jbmr.4177. Epub 2020 Oct 13. J Bone Miner Res. 2021. PMID: 32916022 Free PMC article.

2

Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome).

Cormier-Daire V, Huber C, Munnich A. Cormier-Daire V, et al. Am J Med Genet. 2001 Winter;106(4):272-4. doi: 10.1002/ajmg.10228. Am J Med Genet. 2001. PMID: 11891678

3

[Genetics and the SHOX gene].

Huber C, Cormier-Daire V. Huber C, et al. Arch Pediatr. 2004 Jun;11(6):555-6. doi: 10.1016/j.arcped.2004.03.057. Arch Pediatr. 2004. PMID: 15158831 French. No abstract available.

4

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.

Dagoneau N, Benoist-Lasselin C, Huber C, Faivre L, Mégarbané A, Alswaid A, Dollfus H, Alembik Y, Munnich A, Legeai-Mallet L, Cormier-Daire V. Dagoneau N, et al. Am J Hum Genet. 2004 Nov;75(5):801-6. doi: 10.1086/425231. Epub 2004 Sep 13. Am J Hum Genet. 2004. PMID: 15368195 Free PMC article.

5

Severe, atypical form of dyschondrosteosis (report of two cases).

Bieganski T, Bik K, Cormier-Daire V, Huber C, Nowicki G, Kozlowski K. Bieganski T, et al. Eur J Pediatr. 2005 Sep;164(9):539-43. doi: 10.1007/s00431-005-1691-2. Epub 2005 Jun 10. Eur J Pediatr. 2005. PMID: 15947998

6

High incidence of SHOX anomalies in individuals with short stature.

Huber C, Rosilio M, Munnich A, Cormier-Daire V; French SHOX GeNeSIS Module. Huber C, et al. J Med Genet. 2006 Sep;43(9):735-9. doi: 10.1136/jmg.2006.040998. Epub 2006 Apr 5. J Med Genet. 2006. PMID: 16597678 Free PMC article.

7

Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.

Dagoneau N, Bellais S, Blanchet P, Sarda P, Al-Gazali LI, Di Rocco M, Huber C, Djouadi F, Le Goff C, Munnich A, Cormier-Daire V. Dagoneau N, et al. Am J Hum Genet. 2007 May;80(5):966-70. doi: 10.1086/513608. Epub 2007 Mar 13. Am J Hum Genet. 2007. PMID: 17436251 Free PMC article.

8

A new osteogenesis imperfecta with improvement over time maps to 11q.

Kamoun-Goldrat A, Pannier S, Huber C, Finidori G, Munnich A, Cormier-Daire V, Le Merrer M. Kamoun-Goldrat A, et al. Am J Med Genet A. 2008 Jul 15;146A(14):1807-14. doi: 10.1002/ajmg.a.32379. Am J Med Genet A. 2008. PMID: 18553516

9

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.

Dagoneau N, Goulet M, Geneviève D, Sznajer Y, Martinovic J, Smithson S, Huber C, Baujat G, Flori E, Tecco L, Cavalcanti D, Delezoide AL, Serre V, Le Merrer M, Munnich A, Cormier-Daire V. Dagoneau N, et al. Am J Hum Genet. 2009 May;84(5):706-11. doi: 10.1016/j.ajhg.2009.04.016. Am J Hum Genet. 2009. PMID: 19442771 Free PMC article.

10

Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia.

Lausch E, Keppler R, Hilbert K, Cormier-Daire V, Nikkel S, Nishimura G, Unger S, Spranger J, Superti-Furga A, Zabel B. Lausch E, et al. Am J Hum Genet. 2009 Aug;85(2):168-78. doi: 10.1016/j.ajhg.2009.06.014. Epub 2009 Jul 16. Am J Hum Genet. 2009. PMID: 19615667 Free PMC article.

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