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Page 1
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
Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships.
Bonaventure J, Cohen-Solal L, Ritvaniemi P, Van Maldergem L, Kadhom N, Delezoide AL, Maroteaux P, Prockop DJ, Ala-Kokko L. Bonaventure J, et al. Biochem J. 1995 May 1;307 ( Pt 3)(Pt 3):823-30. doi: 10.1042/bj3070823. Biochem J. 1995. PMID: 7741714 Free PMC article.
Clinical variability in patients with Apert's syndrome.
Lajeunie E, Cameron R, El Ghouzzi V, de Parseval N, Journeau P, Gonzales M, Delezoide AL, Bonaventure J, Le Merrer M, Renier D. Lajeunie E, et al. Among authors: bonaventure j. J Neurosurg. 1999 Mar;90(3):443-7. doi: 10.3171/jns.1999.90.3.0443. J Neurosurg. 1999. PMID: 10067911
101 results