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Page 1
SHOX point mutations in dyschondrosteosis.
Huber C, Cusin V, Le Merrer M, Mathieu M, Sulmont V, Dagoneau N, Munnich A, Cormier-Daire V. Huber C, et al. Among authors: munnich a. J Med Genet. 2001 May;38(5):323. doi: 10.1136/jmg.38.5.323. J Med Genet. 2001. PMID: 11403039 Free PMC article. No abstract available.
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. Among authors: munnich a. 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.
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).
Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Le Merrer M, Munnich A, Cormier-Daire V. Belin V, et al. Among authors: munnich a. Nat Genet. 1998 May;19(1):67-9. doi: 10.1038/ng0198-67. Nat Genet. 1998. PMID: 9590292
SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome.
Cormier-Daire V, Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Le Merrer M, Munnich A. Cormier-Daire V, et al. Among authors: munnich a. Acta Paediatr Suppl. 1999 Dec;88(433):55-9. doi: 10.1111/j.1651-2227.1999.tb14404.x. Acta Paediatr Suppl. 1999. PMID: 10626546
Sulphate transporter gene mutations in apparently isolated club foot.
Huber C, Odent S, Rumeur S, Padovani P, Penet C, Cormier-Daire V, Munnich A, Le Merrer M. Huber C, et al. Among authors: munnich a. J Med Genet. 2001 Mar;38(3):191-3. doi: 10.1136/jmg.38.3.191. J Med Genet. 2001. PMID: 11303514 Free PMC article. No abstract available.
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.
Faivre L, Le Merrer M, Baumann C, Polak M, Chatelain P, Sulmont V, Cousin J, Bost M, Cordier MP, Zackai E, Russell K, Finidori G, Pouliquen JC, Munnich A, Maroteaux P, Cormier-Daire V. Faivre L, et al. Among authors: munnich a. J Med Genet. 2001 Nov;38(11):745-9. doi: 10.1136/jmg.38.11.745. J Med Genet. 2001. PMID: 11694546 Free PMC article.
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. Among authors: munnich a. Nat Genet. 2005 Oct;37(10):1119-24. doi: 10.1038/ng1628. Epub 2005 Sep 4. Nat Genet. 2005. PMID: 16142236
1,068 results