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Long-term outcome in Desbuquois dysplasia: a follow-up in four adult patients.
Faivre L, Cormier-Daire V, Young I, Bracq H, Finidori G, Padovani JP, Odent S, Lachman R, Munnich A, Maroteaux P, Le Merrer M. Faivre L, et al. Among authors: le merrer m. Am J Med Genet A. 2004 Jan 1;124A(1):54-9. doi: 10.1002/ajmg.a.20441. Am J Med Genet A. 2004. PMID: 14679587
Clinical and genetic heterogeneity in Desbuquois dysplasia.
Faivre L, Le Merrer M, Zerres K, Ben Hariz M, Scheffer D, Young ID, Maroteaux P, Munnich A, Cormier-Daire V. Faivre L, et al. Among authors: le merrer m. Am J Med Genet A. 2004 Jul 1;128A(1):29-32. doi: 10.1002/ajmg.a.30042. Am J Med Genet A. 2004. PMID: 15211652
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
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
Allali S, Le Goff C, Pressac-Diebold I, Pfennig G, Mahaut C, Dagoneau N, Alanay Y, Brady AF, Crow YJ, Devriendt K, Drouin-Garraud V, Flori E, Geneviève D, Hennekam RC, Hurst J, Krakow D, Le Merrer M, Lichtenbelt KD, Lynch SA, Lyonnet S, MacDermot K, Mansour S, Megarbané A, Santos HG, Splitt M, Superti-Furga A, Unger S, Williams D, Munnich A, Cormier-Daire V. Allali S, et al. Among authors: le goff c, le merrer m. J Med Genet. 2011 Jun;48(6):417-21. doi: 10.1136/jmg.2010.087544. Epub 2011 Mar 17. J Med Genet. 2011. PMID: 21415077 Free PMC article.
Dominant carpotarsal osteochondromatosis.
Maroteaux P, Le Merrer M, Bensahel H, Freisinger P. Maroteaux P, et al. Among authors: le merrer m. J Med Genet. 1993 Aug;30(8):704-6. doi: 10.1136/jmg.30.8.704. J Med Genet. 1993. PMID: 8411062 Free PMC article.
Dyssegmental dysplasia with glaucoma.
Maroteaux P, Manouvrier S, Bonaventure J, Le Merrer M. Maroteaux P, et al. Among authors: le merrer m. Am J Med Genet. 1996 May 3;63(1):46-9. doi: 10.1002/(SICI)1096-8628(19960503)63:1<46::AID-AJMG10>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8723085
348 results