Le Merrer M - Search Results

1

Baujat G, Legeai-Mallet L, Finidori G, Cormier-Daire V, Le Merrer M. Baujat G, et al. Among authors: le merrer m. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):3-18. doi: 10.1016/j.berh.2007.12.008. Best Pract Res Clin Rheumatol. 2008. PMID: 18328977 Review.

2

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

Heuertz S, Le Merrer M, Zabel B, Wright M, Legeai-Mallet L, Cormier-Daire V, Gibbs L, Bonaventure J. Heuertz S, et al. Among authors: le merrer m. Eur J Hum Genet. 2006 Dec;14(12):1240-7. doi: 10.1038/sj.ejhg.5201700. Epub 2006 Aug 16. Eur J Hum Genet. 2006. PMID: 16912704

3

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: le merrer m. Nature. 1994 Sep 15;371(6494):252-4. doi: 10.1038/371252a0. Nature. 1994. PMID: 8078586

4

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. Among authors: le merrer m. 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

5

Mutations of the fibroblast growth factor receptor-3 gene 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: le merrer m. Horm Res. 1996;45(1-2):108-10. doi: 10.1159/000184768. Horm Res. 1996. PMID: 8742128 Review.

6

Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia.

Bonaventure J, Rousseau F, Legeai-Mallet L, Le Merrer M, Munnich A, Maroteaux P. Bonaventure J, et al. Among authors: le merrer m. Acta Paediatr Suppl. 1996 Oct;417:33-8. doi: 10.1111/j.1651-2227.1996.tb14291.x. Acta Paediatr Suppl. 1996. PMID: 9055906

7

Long-term outcome in Desbuquois dysplasia: a follow-up in four adult patients.

Faivre L, Cormier-Daire V, Young I, Bracq H, Finidori G, Padovani JP, Odent S, Lachman R, Munnich A, Maroteaux P, Le Merrer M. Faivre L, et al. Among authors: le merrer m. Am J Med Genet A. 2004 Jan 1;124A(1):54-9. doi: 10.1002/ajmg.a.20441. Am J Med Genet A. 2004. PMID: 14679587

8

Ellis-van Creveld syndrome.

Baujat G, Le Merrer M. Baujat G, et al. Among authors: le merrer m. Orphanet J Rare Dis. 2007 Jun 4;2:27. doi: 10.1186/1750-1172-2-27. Orphanet J Rare Dis. 2007. PMID: 17547743 Free PMC article. Review.

9

Crouzon syndrome with acanthosis nigricans: a case-based update.

Di Rocco F, Collet C, Legeai-Mallet L, Arnaud E, Le Merrer M, Hadj-Rabia S, Renier D. Di Rocco F, et al. Among authors: le merrer m. Childs Nerv Syst. 2011 Mar;27(3):349-54. doi: 10.1007/s00381-010-1347-z. Epub 2010 Dec 7. Childs Nerv Syst. 2011. PMID: 21136065

10

Lung function, diagnosis, and treatment of sleep-disordered breathing in children with achondroplasia.

Julliand S, Boulé M, Baujat G, Ramirez A, Couloigner V, Beydon N, Zerah M, di Rocco F, Lemerrer M, Cormier-Daire V, Fauroux B. Julliand S, et al. Am J Med Genet A. 2012 Aug;158A(8):1987-93. doi: 10.1002/ajmg.a.35441. Epub 2012 Jun 18. Am J Med Genet A. 2012. PMID: 22711495

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