Bonaventure J - Search Results

1

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

2

Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene.

Bonaventure J, Philippe C, Plessis G, Vigneron J, Lasselin C, Maroteaux P, Gilgenkrantz S. Bonaventure J, et al. Hum Genet. 1992 Sep-Oct;90(1-2):164-8. doi: 10.1007/BF00210766. Hum Genet. 1992. PMID: 1358786

3

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.

4

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

5

A new lethal brittle bone syndrome with increased amount of type V collagen in a patient.

Bonaventure J, Zylberberg L, Cohen-Solal L, Allain JC, Lasselin C, Maroteaux P. Bonaventure J, et al. Am J Med Genet. 1989 Jul;33(3):299-310. doi: 10.1002/ajmg.1320330304. Am J Med Genet. 1989. PMID: 2478018

6

Clinical and genetical heterogeneity of osteogenesis imperfecta.

Maroteaux P, Cohen-Solal L, Bonaventure J. Maroteaux P, et al. Among authors: bonaventure j. Ann N Y Acad Sci. 1988;543:16-29. doi: 10.1111/j.1749-6632.1988.tb55312.x. Ann N Y Acad Sci. 1988. PMID: 3063162 Review. No abstract available.

7

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

8

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

9

Morphological and biochemical studies of a mouse mutant (fro/fro) with bone fragility.

Muriel MP, Bonaventure J, Stanescu R, Maroteaux P, Guénet JL, Stanescu V. Muriel MP, et al. Among authors: bonaventure j. Bone. 1991;12(4):241-8. doi: 10.1016/8756-3282(91)90070-y. Bone. 1991. PMID: 1793673

10

Collagen disorders and skeletal dysplasias.

Bonaventure J, Cohen-Solal L, Maroteaux P. Bonaventure J, et al. Curr Opin Rheumatol. 1990 Feb;2(1):38-43. doi: 10.1097/00002281-199002010-00007. Curr Opin Rheumatol. 1990. PMID: 2223453 Review. No abstract available.

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