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Type II collagenopathies: are there additional family members?
Freisinger P, Bonaventure J, Stoess H, Pontz BF, Emmrich P, Nerlich A. Freisinger P, et al. Among authors: bonaventure j. Am J Med Genet. 1996 May 3;63(1):137-43. doi: 10.1002/(SICI)1096-8628(19960503)63:1<137::AID-AJMG24>3.0.CO;2-O. Am J Med Genet. 1996. PMID: 8723099
Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.
Thauvin-Robinet C, Faivre L, Lewin P, De Monléon JV, François C, Huet F, Couailler JF, Campos-Xavier AB, Bonaventure J, Le Merrer M. Thauvin-Robinet C, et al. Among authors: bonaventure j. Am J Med Genet A. 2003 May 15;119A(1):81-4. doi: 10.1002/ajmg.a.10238. Am J Med Genet A. 2003. PMID: 12707965 No abstract available.
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.
COL9A3: A third locus for multiple epiphyseal dysplasia.
Paassilta P, Lohiniva J, Annunen S, Bonaventure J, Le Merrer M, Pai L, Ala-Kokko L. Paassilta P, et al. Among authors: bonaventure j. Am J Hum Genet. 1999 Apr;64(4):1036-44. doi: 10.1086/302328. Am J Hum Genet. 1999. PMID: 10090888 Free PMC article.
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: bonaventure j. Hum Mol Genet. 1997 Oct;6(11):1899-906. doi: 10.1093/hmg/6.11.1899. Hum Mol Genet. 1997. PMID: 9302269
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
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