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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. Among authors: huber c. 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.
Genetic homogeneity of the Camurati-Engelmann disease.
Belinda A, Xavier CF, Saraiva JM, Le Merrer M, Dagoneau N, Huber C, Penet C, Munnich A, Cormier-Daire V. Belinda A, et al. Among authors: huber c. Clin Genet. 2000 Aug;58(2):150-2. doi: 10.1034/j.1399-0004.2000.580211.x. Clin Genet. 2000. PMID: 11005150 No abstract available.
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. 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.
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. 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.
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.
Dagoneau N, Scheffer D, Huber C, Al-Gazali LI, Di Rocco M, Godard A, Martinovic J, Raas-Rothschild A, Sigaudy S, Unger S, Nicole S, Fontaine B, Taupin JL, Moreau JF, Superti-Furga A, Le Merrer M, Bonaventure J, Munnich A, Legeai-Mallet L, Cormier-Daire V. Dagoneau N, et al. Among authors: huber c. Am J Hum Genet. 2004 Feb;74(2):298-305. doi: 10.1086/381715. Epub 2004 Jan 21. Am J Hum Genet. 2004. PMID: 14740318 Free PMC article.
[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.
1,811 results