Le Merrer M - Search Results

1

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).

Rousseau F, el Ghouzzi V, Delezoide AL, Legeai-Mallet L, Le Merrer M, Munnich A, Bonaventure J. Rousseau F, et al. Among authors: le merrer m. Hum Mol Genet. 1996 Apr;5(4):509-12. doi: 10.1093/hmg/5.4.509. Hum Mol Genet. 1996. PMID: 8845844

2

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

Heuertz S, Le Merrer M, Zabel B, Wright M, Legeai-Mallet L, Cormier-Daire V, Gibbs L, Bonaventure J. Heuertz S, et al. Among authors: le merrer m. Eur J Hum Genet. 2006 Dec;14(12):1240-7. doi: 10.1038/sj.ejhg.5201700. Epub 2006 Aug 16. Eur J Hum Genet. 2006. PMID: 16912704

3

Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.

Rousseau F, Saugier P, Le Merrer M, Munnich A, Delezoide AL, Maroteaux P, Bonaventure J, Narcy F, Sanak M. Rousseau F, et al. Among authors: le merrer m. Nat Genet. 1995 May;10(1):11-2. doi: 10.1038/ng0595-11. Nat Genet. 1995. PMID: 7647778 No abstract available.

4

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.

Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet JM, Maroteaux P, Le Merrer M, Munnich A. Rousseau F, et al. Among authors: le merrer m. Nature. 1994 Sep 15;371(6494):252-4. doi: 10.1038/371252a0. Nature. 1994. PMID: 8078586

5

A gene for hereditary multiple exostoses maps to chromosome 19p.

Le Merrer M, Legeai-Mallet L, Jeannin PM, Horsthemke B, Schinzel A, Plauchu H, Toutain A, Achard F, Munnich A, Maroteaux P. Le Merrer M, et al. Hum Mol Genet. 1994 May;3(5):717-22. doi: 10.1093/hmg/3.5.717. Hum Mol Genet. 1994. PMID: 8081357

6

No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis.

Ma HW, Lajeunie E, Le Merrer M, de Parseval N, Serville F, Weissenbach J, Munnich A, Renier D. Ma HW, et al. Among authors: le merrer m. Hum Genet. 1995 Dec;96(6):731-5. doi: 10.1007/BF00210308. Hum Genet. 1995. PMID: 8522336

7

Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.

Bonaventure J, Rousseau F, Legeai-Mallet L, Le Merrer M, Munnich A, Maroteaux P. Bonaventure J, et al. Among authors: le merrer m. Am J Med Genet. 1996 May 3;63(1):148-54. doi: 10.1002/(SICI)1096-8628(19960503)63:1<148::AID-AJMG26>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8723101

8

Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.

Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet JM, Maroteaux P, Le Merrer M, Munnich A. Rousseau F, et al. Among authors: le merrer m. Horm Res. 1996;45(1-2):108-10. doi: 10.1159/000184768. Horm Res. 1996. PMID: 8742128 Review.

9

Clinical and genetic heterogeneity of hypochondroplasia.

Rousseau F, Bonaventure J, Legeai-Mallet L, Schmidt H, Weissenbach J, Maroteaux P, Munnich A, Le Merrer M. Rousseau F, et al. Among authors: le merrer m. J Med Genet. 1996 Sep;33(9):749-52. doi: 10.1136/jmg.33.9.749. J Med Genet. 1996. PMID: 8880574 Free PMC article.

10

[Mutations of FGFR3 gene cause 3 types of nanisms with variably severity: achondroplasia, thanatophoric nanism and hypochondroplasia].

Rousseau F, Bonaventure J, Le Merrer M, Maroteaux P, Munnich A. Rousseau F, et al. Among authors: le merrer m. Ann Endocrinol (Paris). 1996;57(3):153. Ann Endocrinol (Paris). 1996. PMID: 8949408 French. No abstract available.

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