Munnich A - Search Results

1

EXT 1 gene mutation induces chondrocyte cytoskeletal abnormalities and defective collagen expression in the exostoses.

Legeai-Mallet L, Rossi A, Benoist-Lasselin C, Piazza R, Mallet JF, Delezoide AL, Munnich A, Bonaventure J, Zylberberg L. Legeai-Mallet L, et al. Among authors: munnich a. J Bone Miner Res. 2000 Aug;15(8):1489-500. doi: 10.1359/jbmr.2000.15.8.1489. J Bone Miner Res. 2000. PMID: 10934647 Free article.

2

Defective chondrocyte proliferation and differentiation in osteochondromas of MHE patients.

Benoist-Lasselin C, de Margerie E, Gibbs L, Cormier S, Silve C, Nicolas G, LeMerrer M, Mallet JF, Munnich A, Bonaventure J, Zylberberg L, Legeai-Mallet L. Benoist-Lasselin C, et al. Among authors: munnich a. Bone. 2006 Jul;39(1):17-26. doi: 10.1016/j.bone.2005.12.003. Epub 2006 Feb 13. Bone. 2006. PMID: 16476576

3

Overexpression of FGFR3, Stat1, Stat5 and p21Cip1 correlates with phenotypic severity and defective chondrocyte differentiation in FGFR3-related chondrodysplasias.

Legeai-Mallet L, Benoist-Lasselin C, Munnich A, Bonaventure J. Legeai-Mallet L, et al. Among authors: munnich a. Bone. 2004 Jan;34(1):26-36. doi: 10.1016/j.bone.2003.09.002. Bone. 2004. PMID: 14751560

4

New insight on FGFR3-related chondrodysplasias molecular physiopathology revealed by human chondrocyte gene expression profiling.

Schibler L, Gibbs L, Benoist-Lasselin C, Decraene C, Martinovic J, Loget P, Delezoide AL, Gonzales M, Munnich A, Jais JP, Legeai-Mallet L. Schibler L, et al. Among authors: munnich a. PLoS One. 2009 Oct 29;4(10):e7633. doi: 10.1371/journal.pone.0007633. PLoS One. 2009. PMID: 19898608 Free PMC article.

5

Delayed bone age due to a dual effect of FGFR3 mutation in Achondroplasia.

Pannier S, Mugniery E, Jonquoy A, Benoist-Lasselin C, Odent T, Jais JP, Munnich A, Legeai-Mallet L. Pannier S, et al. Among authors: munnich a. Bone. 2010 Nov;47(5):905-15. doi: 10.1016/j.bone.2010.07.020. Epub 2010 Jul 29. Bone. 2010. PMID: 20673820

6

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. Among authors: munnich a. Hum Mol Genet. 1994 May;3(5):717-22. doi: 10.1093/hmg/3.5.717. Hum Mol Genet. 1994. PMID: 8081357

7

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. Among authors: munnich a. Hum Genet. 1997 Mar;99(3):298-302. doi: 10.1007/s004390050361. Hum Genet. 1997. PMID: 9050912

8

Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia.

Bonaventure J, Rousseau F, Legeai-Mallet L, Le Merrer M, Munnich A, Maroteaux P. Bonaventure J, et al. Among authors: munnich a. Acta Paediatr Suppl. 1996 Oct;417:33-8. doi: 10.1111/j.1651-2227.1996.tb14291.x. Acta Paediatr Suppl. 1996. PMID: 9055906

9

Incomplete penetrance and expressivity skewing in hereditary multiple exostoses.

Legeai-Mallet L, Munnich A, Maroteaux P, Le Merrer M. Legeai-Mallet L, et al. Among authors: munnich a. Clin Genet. 1997 Jul;52(1):12-6. doi: 10.1111/j.1399-0004.1997.tb02508.x. Clin Genet. 1997. PMID: 9272707

10

Abnormal FGFR 3 expression in cartilage of thanatophoric dysplasia fetuses.

Delezoide AL, Lasselin-Benoist C, Legeai-Mallet L, Brice P, Senée V, Yayon A, Munnich A, Vekemans M, Bonaventure J. Delezoide AL, et al. Among authors: munnich a. Hum Mol Genet. 1997 Oct;6(11):1899-906. doi: 10.1093/hmg/6.11.1899. Hum Mol Genet. 1997. PMID: 9302269

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