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348 results

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Page 1
Prenatal cortical hyperostosis with COL1A1 gene mutation.
Kamoun-Goldrat A, Martinovic J, Saada J, Sonigo-Cohen P, Razavi F, Munnich A, Le Merrer M. Kamoun-Goldrat A, et al. Among authors: le merrer m. Am J Med Genet A. 2008 Jul 15;146A(14):1820-4. doi: 10.1002/ajmg.a.32351. Am J Med Genet A. 2008. PMID: 18553566
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. Among authors: le merrer m. 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
Infantile cortical hyperostosis (Caffey disease): a review.
Kamoun-Goldrat A, le Merrer M. Kamoun-Goldrat A, et al. Among authors: le merrer m. J Oral Maxillofac Surg. 2008 Oct;66(10):2145-50. doi: 10.1016/j.joms.2007.09.007. J Oral Maxillofac Surg. 2008. PMID: 18848116 Review.
Animal models of osteogenesis imperfecta and related syndromes.
Kamoun-Goldrat AS, Le Merrer MF. Kamoun-Goldrat AS, et al. J Bone Miner Metab. 2007;25(4):211-8. doi: 10.1007/s00774-007-0750-3. Epub 2007 Jun 25. J Bone Miner Metab. 2007. PMID: 17593490 Review. No abstract available.
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: le merrer m. 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.
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
El Hokayem J, Huber C, Couvé A, Aziza J, Baujat G, Bouvier R, Cavalcanti DP, Collins FA, Cordier MP, Delezoide AL, Gonzales M, Johnson D, Le Merrer M, Levy-Mozziconacci A, Loget P, Martin-Coignard D, Martinovic J, Mortier GR, Perez MJ, Roume J, Scarano G, Munnich A, Cormier-Daire V. El Hokayem J, et al. Among authors: le merrer m. J Med Genet. 2012 Apr;49(4):227-33. doi: 10.1136/jmedgenet-2011-100717. J Med Genet. 2012. PMID: 22499340
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.
Baujat G, Huber C, El Hokayem J, Caumes R, Do Ngoc Thanh C, David A, Delezoide AL, Dieux-Coeslier A, Estournet B, Francannet C, Kayirangwa H, Lacaille F, Le Bourgeois M, Martinovic J, Salomon R, Sigaudy S, Malan V, Munnich A, Le Merrer M, Le Quan Sang KH, Cormier-Daire V. Baujat G, et al. Among authors: le bourgeois m, le quan sang kh, le merrer m. J Med Genet. 2013 Feb;50(2):91-8. doi: 10.1136/jmedgenet-2012-101282. J Med Genet. 2013. PMID: 23339108
348 results