Bonaventure J - Search Results

1

Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.

Wallis GA, Rash B, Sykes B, Bonaventure J, Maroteaux P, Zabel B, Wynne-Davies R, Grant ME, Boot-Handford RP. Wallis GA, et al. Among authors: bonaventure j. J Med Genet. 1996 Jun;33(6):450-7. doi: 10.1136/jmg.33.6.450. J Med Genet. 1996. PMID: 8782043 Free PMC article.

2

Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.

Bonaventure J, Chaminade F, Maroteaux P. Bonaventure J, et al. Hum Genet. 1995 Jul;96(1):58-64. doi: 10.1007/BF00214187. Hum Genet. 1995. PMID: 7607655

3

Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity.

Bonaventure J, Stanescu R, Stanescu V, Allain JC, Muriel MP, Ginisty D, Maroteaux P. Bonaventure J, et al. Am J Med Genet. 1992 Dec 1;44(6):738-53. doi: 10.1002/ajmg.1320440607. Am J Med Genet. 1992. PMID: 1481841

4

Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome.

Bonaventure J, Lasselin C, Mellier J, Cohen-Solal L, Maroteaux P. Bonaventure J, et al. J Med Genet. 1992 Jul;29(7):465-70. J Med Genet. 1992. PMID: 1640425 Free PMC article.

5

Dyssegmental dysplasia with glaucoma.

Maroteaux P, Manouvrier S, Bonaventure J, Le Merrer M. Maroteaux P, et al. Among authors: bonaventure j. 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

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

Dominant mutations in familial lethal and severe osteogenesis imperfecta.

Cohen-Solal L, Bonaventure J, Maroteaux P. Cohen-Solal L, et al. Among authors: bonaventure j. Hum Genet. 1991 Jul;87(3):297-301. doi: 10.1007/BF00200907. Hum Genet. 1991. PMID: 1864604

8

Achondrogenesis type IB (Fraccaro): study of collagen in the tissue and in chondrocytes cultured in agarose.

Freisinger P, Stanescu V, Jacob B, Cohen-Solal L, Maroteaux P, Bonaventure J. Freisinger P, et al. Among authors: bonaventure j. Am J Med Genet. 1994 Feb 15;49(4):439-46. doi: 10.1002/ajmg.1320490418. Am J Med Genet. 1994. PMID: 8160740

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: bonaventure j. 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

A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta.

Bonaventure J, Cohen-Solal L, Lasselin C, Maroteaux P. Bonaventure J, et al. Hum Genet. 1992 Aug;89(6):640-6. doi: 10.1007/BF00221955. Hum Genet. 1992. PMID: 1511982

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