Bonaventure J - Search Results

1

Lajeunie E, Ma HW, Bonaventure J, Munnich A, Le Merrer M, Renier D. Lajeunie E, et al. Among authors: bonaventure j. Nat Genet. 1995 Feb;9(2):108. doi: 10.1038/ng0295-108. Nat Genet. 1995. PMID: 7719333 No abstract available.

2

Mutations of the TWIST gene in the Saethre-Chotzen syndrome.

el Ghouzzi V, Le Merrer M, Perrin-Schmitt F, Lajeunie E, Benit P, Renier D, Bourgeois P, Bolcato-Bellemin AL, Munnich A, Bonaventure J. el Ghouzzi V, et al. Among authors: bonaventure j. Nat Genet. 1997 Jan;15(1):42-6. doi: 10.1038/ng0197-42. Nat Genet. 1997. PMID: 8988167

3

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.

Lajeunie E, Heuertz S, El Ghouzzi V, Martinovic J, Renier D, Le Merrer M, Bonaventure J. Lajeunie E, et al. Among authors: bonaventure j. Eur J Hum Genet. 2006 Mar;14(3):289-98. doi: 10.1038/sj.ejhg.5201558. Eur J Hum Genet. 2006. PMID: 16418739 Free article.

4

Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.

Rousseau F, Saugier P, Le Merrer M, Munnich A, Delezoide AL, Maroteaux P, Bonaventure J, Narcy F, Sanak M. Rousseau F, et al. Among authors: bonaventure j. Nat Genet. 1995 May;10(1):11-2. doi: 10.1038/ng0595-11. Nat Genet. 1995. PMID: 7647778 No abstract available.

5

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.

Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet JM, Maroteaux P, Le Merrer M, Munnich A. Rousseau F, et al. Among authors: bonaventure j. Nature. 1994 Sep 15;371(6494):252-4. doi: 10.1038/371252a0. Nature. 1994. PMID: 8078586

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

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).

Rousseau F, el Ghouzzi V, Delezoide AL, Legeai-Mallet L, Le Merrer M, Munnich A, Bonaventure J. Rousseau F, et al. Among authors: bonaventure j. Hum Mol Genet. 1996 Apr;5(4):509-12. doi: 10.1093/hmg/5.4.509. Hum Mol Genet. 1996. PMID: 8845844

8

Lajeunie E, El Ghouzzi V, Le Merrer M, Munnich A, Bonaventure J, Renier D. Lajeunie E, et al. Among authors: bonaventure j. J Med Genet. 1999 Jan;36(1):9-13. J Med Genet. 1999. PMID: 9950359 Free PMC article.

9

Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.

El Ghouzzi V, Lajeunie E, Le Merrer M, Cormier-Daire V, Renier D, Munnich A, Bonaventure J. El Ghouzzi V, et al. Among authors: bonaventure j. Eur J Hum Genet. 1999 Jan;7(1):27-33. doi: 10.1038/sj.ejhg.5200240. Eur J Hum Genet. 1999. PMID: 10094188

10

Monozygotic twins with Crouzon syndrome: concordance for craniosynostosis and discordance for thumb duplication.

Lajeunie E, Bonaventure J, El Ghouzzi V, Catala M, Renier D. Lajeunie E, et al. Among authors: bonaventure j. Am J Med Genet. 2000 Mar 13;91(2):159-60. Am J Med Genet. 2000. PMID: 10748419 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

101 results

Search Page

Filters