Cormier-Daire V - Search Results

1

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.

Ehmke N, Cusmano-Ozog K, Koenig R, Holtgrewe M, Nur B, Mihci E, Babcock H, Gonzaga-Jauregui C, Overton JD, Xiao J, Martinez AF, Muenke M, Balzer A, Jochim J, El Choubassi N, Fischer-Zirnsak B, Huber C, Kornak U, Elsea SH, Cormier-Daire V, Ferreira CR. Ehmke N, et al. Bone. 2020 Apr;133:115219. doi: 10.1016/j.bone.2019.115219. Epub 2020 Jan 7. Bone. 2020. PMID: 31923704 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

Identification of mutations in CUL7 in 3-M syndrome.

Huber C, Dias-Santagata D, Glaser A, O'Sullivan J, Brauner R, Wu K, Xu X, Pearce K, Wang R, Uzielli ML, Dagoneau N, Chemaitilly W, Superti-Furga A, Dos Santos H, Mégarbané A, Morin G, Gillessen-Kaesbach G, Hennekam R, Van der Burgt I, Black GC, Clayton PE, Read A, Le Merrer M, Scambler PJ, Munnich A, Pan ZQ, Winter R, Cormier-Daire V. Huber C, et al. Nat Genet. 2005 Oct;37(10):1119-24. doi: 10.1038/ng1628. Epub 2005 Sep 4. Nat Genet. 2005. PMID: 16142236

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

OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels.

Huber C, Fradin M, Edouard T, Le Merrer M, Alanay Y, Da Silva DB, David A, Hamamy H, van Hest L, Lund AM, Michaud J, Oley C, Patel C, Rajab A, Skidmore DL, Stewart H, Tauber M, Munnich A, Cormier-Daire V. Huber C, et al. Hum Mutat. 2010 Jan;31(1):20-6. doi: 10.1002/humu.21150. Hum Mutat. 2010. PMID: 19877176

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