Le Merrer M - Search Results

1

X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families.

Fiedler J, Le Merrer M, Mortier G, Heuertz S, Faivre L, Brenner RE. Fiedler J, et al. Among authors: le merrer m. Hum Mutat. 2004 Jul;24(1):103. doi: 10.1002/humu.9254. Hum Mutat. 2004. PMID: 15221797

2

X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable platyspondyly.

Fiedler J, Frances AM, Le Merrer M, Richter M, Brenner RE. Fiedler J, et al. Among authors: le merrer m. Spine (Phila Pa 1976). 2003 Nov 15;28(22):E478-82. doi: 10.1097/01.BRS.0000096667.50789.95. Spine (Phila Pa 1976). 2003. PMID: 14624098

3

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.

Jackson GC, Mittaz-Crettol L, Taylor JA, Mortier GR, Spranger J, Zabel B, Le Merrer M, Cormier-Daire V, Hall CM, Offiah A, Wright MJ, Savarirayan R, Nishimura G, Ramsden SC, Elles R, Bonafe L, Superti-Furga A, Unger S, Zankl A, Briggs MD. Jackson GC, et al. Among authors: le merrer m. Hum Mutat. 2012 Jan;33(1):144-57. doi: 10.1002/humu.21611. Epub 2011 Oct 31. Hum Mutat. 2012. PMID: 21922596 Free PMC article.

4

Genetic mapping of Xp22.12-p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL).

Heuertz S, Smahi A, Wilkie AO, Le Merrer M, Maroteaux P, Hors-Cayla MC. Heuertz S, et al. Among authors: le merrer m. Hum Genet. 1995 Oct;96(4):407-10. doi: 10.1007/BF00191797. Hum Genet. 1995. PMID: 7557961

5

The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.

Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, Gecz J, Mulley JC. Gedeon AK, et al. Among authors: le merrer m. Am J Hum Genet. 2001 Jun;68(6):1386-97. doi: 10.1086/320592. Epub 2001 May 8. Am J Hum Genet. 2001. PMID: 11349230 Free PMC article.

6

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

7

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: le merrer m. 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.

8

Czech dysplasia metatarsal type: another type II collagen disorder.

Hoornaert KP, Marik I, Kozlowski K, Cole T, Le Merrer M, Leroy JG, Coucke PJ, Sillence D, Mortier GR. Hoornaert KP, et al. Among authors: le merrer m. Eur J Hum Genet. 2007 Dec;15(12):1269-75. doi: 10.1038/sj.ejhg.5201913. Epub 2007 Aug 29. Eur J Hum Genet. 2007. PMID: 17726487

9

The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92.

Heuertz S, Nelen M, Wilkie AO, Le Merrer M, Delrieu O, Larget-Piet L, Tranebjaerg L, Bick D, Hamel B, Van Oost BA, et al. Heuertz S, et al. Among authors: le merrer m. Genomics. 1993 Oct;18(1):100-4. doi: 10.1006/geno.1993.1431. Genomics. 1993. PMID: 7903956

10

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.

Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E, Chassaing N, Vincent MC, Viot G, Clauss F, Manière MC, Toupenay S, Le Merrer M, Lyonnet S, Cormier-Daire V, Amiel J, Faivre L, de Prost Y, Munnich A, Bonnefont JP, Bodemer C, Smahi A. Cluzeau C, et al. Among authors: le merrer m. Hum Mutat. 2011 Jan;32(1):70-2. doi: 10.1002/humu.21384. Hum Mutat. 2011. PMID: 20979233

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