Bonaventure J - Search Results

1

Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.

Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L. Melkoniemi M, et al. Among authors: bonaventure j. Am J Hum Genet. 2000 Feb;66(2):368-77. doi: 10.1086/302750. Am J Hum Genet. 2000. PMID: 10677296 Free PMC article.

2

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.

3

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

4

Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.

Dagoneau N, Scheffer D, Huber C, Al-Gazali LI, Di Rocco M, Godard A, Martinovic J, Raas-Rothschild A, Sigaudy S, Unger S, Nicole S, Fontaine B, Taupin JL, Moreau JF, Superti-Furga A, Le Merrer M, Bonaventure J, Munnich A, Legeai-Mallet L, Cormier-Daire V. Dagoneau N, et al. Among authors: bonaventure j. Am J Hum Genet. 2004 Feb;74(2):298-305. doi: 10.1086/381715. Epub 2004 Jan 21. Am J Hum Genet. 2004. PMID: 14740318 Free PMC article.

5

Genetic homogeneity of cartilage-hair hypoplasia.

Sulisalo T, van der Burgt I, Rimoin DL, Bonaventure J, Sillence D, Campbell JB, Chitayat D, Scott CI, de la Chapelle A, Sistonen P, et al. Sulisalo T, et al. Among authors: bonaventure j. Hum Genet. 1995 Feb;95(2):157-60. doi: 10.1007/BF00209394. Hum Genet. 1995. PMID: 7860061

6

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.

Briggs MD, Mortier GR, Cole WG, King LM, Golik SS, Bonaventure J, Nuytinck L, De Paepe A, Leroy JG, Biesecker L, Lipson M, Wilcox WR, Lachman RS, Rimoin DL, Knowlton RG, Cohn DH. Briggs MD, et al. Among authors: bonaventure j. Am J Hum Genet. 1998 Feb;62(2):311-9. doi: 10.1086/301713. Am J Hum Genet. 1998. PMID: 9463320 Free PMC article.

7

Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter.

Rossi A, Bonaventure J, Delezoide AL, Cetta G, Superti-Furga A. Rossi A, et al. Among authors: bonaventure j. J Biol Chem. 1996 Aug 2;271(31):18456-64. doi: 10.1074/jbc.271.31.18456. J Biol Chem. 1996. PMID: 8702490 Free article.

8

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.

9

Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2.

Rossi A, Bonaventure J, Delezoide AL, Superti-Furga A, Cetta G. Rossi A, et al. Among authors: bonaventure j. Eur J Biochem. 1997 Sep 15;248(3):741-7. doi: 10.1111/j.1432-1033.1997.t01-1-00741.x. Eur J Biochem. 1997. PMID: 9342225 Free article.

10

Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes.

Freisinger P, Ala-Kokko L, LeGuellec D, Franc S, Bouvier R, Ritvaniemi P, Prockop DJ, Bonaventure J. Freisinger P, et al. Among authors: bonaventure j. J Biol Chem. 1994 May 6;269(18):13663-9. J Biol Chem. 1994. PMID: 8175802 Free article.

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