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348 results

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Page 1
Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity.
Jung C, Dagoneau N, Baujat G, Le Merrer M, David A, Di Rocco M, Hamel B, Mégarbané A, Superti-Furga A, Unger S, Munnich A, Cormier-Daire V. Jung C, et al. Among authors: le merrer m. Clin Genet. 2010 Mar;77(3):266-72. doi: 10.1111/j.1399-0004.2009.01314.x. Clin Genet. 2010. PMID: 20447141
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.
Faivre L, Dollfus H, Lyonnet S, Alembik Y, Mégarbané A, Samples J, Gorlin RJ, Alswaid A, Feingold J, Le Merrer M, Munnich A, Cormier-Daire V. Faivre L, et al. Among authors: le merrer m. Am J Med Genet A. 2003 Dec 1;123A(2):204-7. doi: 10.1002/ajmg.a.20289. Am J Med Genet A. 2003. PMID: 14598350 Review.
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: le merrer m. 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.
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
Huber C, Delezoide AL, Guimiot F, Baumann C, Malan V, Le Merrer M, Da Silva DB, Bonneau D, Chatelain P, Chu C, Clark R, Cox H, Edery P, Edouard T, Fano V, Gibson K, Gillessen-Kaesbach G, Giovannucci-Uzielli ML, Graul-Neumann LM, van Hagen JM, van Hest L, Horovitz D, Melki J, Partsch CJ, Plauchu H, Rajab A, Rossi M, Sillence D, Steichen-Gersdorf E, Stewart H, Unger S, Zenker M, Munnich A, Cormier-Daire V. Huber C, et al. Among authors: le merrer m. Eur J Hum Genet. 2009 Mar;17(3):395-400. doi: 10.1038/ejhg.2008.200. Epub 2008 Oct 29. Eur J Hum Genet. 2009. PMID: 19225462 Free PMC article.
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.
Genetic heterogeneity of Meckel syndrome.
Roume J, Ma HW, Le Merrer M, Cormier-Daire V, Girlich D, Genin E, Munnich A. Roume J, et al. Among authors: le merrer m. J Med Genet. 1997 Dec;34(12):1003-6. doi: 10.1136/jmg.34.12.1003. J Med Genet. 1997. PMID: 9429143 Free PMC article.
Presentation of six cases of Stüve-Wiedemann syndrome.
Cormier-Daire V, Munnich A, Lyonnet S, Rustin P, Delezoide AL, Maroteaux P, Le Merrer M. Cormier-Daire V, et al. Among authors: le merrer m. Pediatr Radiol. 1998 Oct;28(10):776-80. doi: 10.1007/s002470050464. Pediatr Radiol. 1998. PMID: 9799300
Clinical and genetic heterogeneity of Seckel syndrome.
Faivre L, Le Merrer M, Lyonnet S, Plauchu H, Dagoneau N, Campos-Xavier AB, Attia-Sobol J, Verloes A, Munnich A, Cormier-Daire V. Faivre L, et al. Among authors: le merrer m. Am J Med Genet. 2002 Nov 1;112(4):379-83. doi: 10.1002/ajmg.10677. Am J Med Genet. 2002. PMID: 12376940
New insights in congenital bowing of the femora.
Cormier-Daire V, Geneviève D, Munnich A, Le Merrer M. Cormier-Daire V, et al. Among authors: le merrer m. Clin Genet. 2004 Sep;66(3):169-76. doi: 10.1111/j.0009-9163.2004.00307.x. Clin Genet. 2004. PMID: 15324311 Review.
348 results