Legeai-Mallet L - Search Results

1

Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2.

Faivre L, Mégarbané A, Alswaid A, Zylberberg L, Aldohayan N, Campos-Xavier B, Bacq D, Legeai-Mallet L, Bonaventure J, Munnich A, Cormier-Daire V. Faivre L, et al. Hum Genet. 2002 Apr;110(4):366-70. doi: 10.1007/s00439-002-0689-3. Epub 2002 Mar 13. Hum Genet. 2002. PMID: 11941487

2

A gene for achondroplasia-hypochondroplasia maps to chromosome 4p.

Le Merrer M, Rousseau F, Legeai-Mallet L, Landais JC, Pelet A, Bonaventure J, Sanak M, Weissenbach J, Stoll C, Munnich A, et al. Le Merrer M, et al. Nat Genet. 1994 Mar;6(3):318-21. doi: 10.1038/ng0394-318. Nat Genet. 1994. PMID: 8012398

3

A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12.

Bonnet D, Pelet A, Legeai-Mallet L, Sidi D, Mathieu M, Parent P, Plauchu H, Serville F, Schinzel A, Weissenbach J, et al. Bonnet D, et al. Nat Genet. 1994 Apr;6(4):405-8. doi: 10.1038/ng0494-405. Nat Genet. 1994. PMID: 8054983

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. 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

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. 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

7

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. Horm Res. 1996;45(1-2):108-10. doi: 10.1159/000184768. Horm Res. 1996. PMID: 8742128 Review.

8

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. Hum Mol Genet. 1996 Apr;5(4):509-12. doi: 10.1093/hmg/5.4.509. Hum Mol Genet. 1996. PMID: 8845844

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. 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

An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses.

Legeai-Mallet L, Margaritte-Jeannin P, Lemdani M, Le Merrer M, Plauchu H, Maroteaux P, Munnich A, Clerget-Darpoux F. Legeai-Mallet L, et al. Hum Genet. 1997 Mar;99(3):298-302. doi: 10.1007/s004390050361. Hum Genet. 1997. PMID: 9050912

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