Megarbané A - Search Results

1

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.

Allali S, Le Goff C, Pressac-Diebold I, Pfennig G, Mahaut C, Dagoneau N, Alanay Y, Brady AF, Crow YJ, Devriendt K, Drouin-Garraud V, Flori E, Geneviève D, Hennekam RC, Hurst J, Krakow D, Le Merrer M, Lichtenbelt KD, Lynch SA, Lyonnet S, MacDermot K, Mansour S, Megarbané A, Santos HG, Splitt M, Superti-Furga A, Unger S, Williams D, Munnich A, Cormier-Daire V. Allali S, et al. Among authors: megarbane a. J Med Genet. 2011 Jun;48(6):417-21. doi: 10.1136/jmg.2010.087544. Epub 2011 Mar 17. J Med Genet. 2011. PMID: 21415077 Free PMC article.

2

Ptosis, down-slanting palpebral fissures, hypertelorism, seizures and mental retardation: a possible new MCA/MR syndrome.

Mégarbané A, Le Merrer M, el Kallab K. Mégarbané A, et al. Clin Dysmorphol. 1997 Jul;6(3):239-44. doi: 10.1097/00019605-199707000-00007. Clin Dysmorphol. 1997. PMID: 9220194

3

Congenital glaucoma, limb deformities, skeletal dysplasia, and facial anomalies: report of another family.

Mégarbané A, Tomey K, Wakim G. Mégarbané A, et al. Am J Med Genet. 1997 Nov 28;73(1):67-71. doi: 10.1002/(sici)1096-8628(19971128)73:1<67::aid-ajmg13>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9375925

4

Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia.

Mégarbané A, Haddad FA, Haddad-Zebouni S, Achram M, Eich G, Le Merrer M, Superti-Furga A. Mégarbané A, et al. Clin Genet. 1999 Jul;56(1):71-6. doi: 10.1034/j.1399-0004.1999.560110.x. Clin Genet. 1999. PMID: 10466420

5

Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type.

Faivre L, Le Merrer M, Megarbane A, Gilbert B, Mortier G, Cusin V, Munnich A, Maroteaux P, Cormier-Daire V. Faivre L, et al. Among authors: megarbane a. J Med Genet. 2000 Jan;37(1):52-4. doi: 10.1136/jmg.37.1.52. J Med Genet. 2000. PMID: 10633136 Free PMC article.

6

Severe mental retardation, short stature, facial anomalies, joint laxity, and dislocations in two sisters: previously undescribed MCA/MR syndrome.

Mégarbané A, Cormier-Daire V. Mégarbané A, et al. Am J Med Genet. 2001 Aug 1;102(2):153-6. doi: 10.1002/ajmg.1429. Am J Med Genet. 2001. PMID: 11477608

7

Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation.

Mégarbané A, Bejjani BA, Shaffer LG, Jambart S, Souraty N, Kashork CD, Le Merrer M. Mégarbané A, et al. Am J Med Genet. 2002 Feb 15;108(1):69-74. doi: 10.1002/ajmg.10222. Am J Med Genet. 2002. PMID: 11857553

8

Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2.

Faivre L, Mégarbané A, Alswaid A, Zylberberg L, Aldohayan N, Campos-Xavier B, Bacq D, Legeai-Mallet L, Bonaventure J, Munnich A, Cormier-Daire V. Faivre L, et al. Among authors: megarbane a. Hum Genet. 2002 Apr;110(4):366-70. doi: 10.1007/s00439-002-0689-3. Epub 2002 Mar 13. Hum Genet. 2002. PMID: 11941487

9

Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1.

Thauvin-Robinet C, El Ghouzzi V, Chemaitilly W, Dagoneau N, Boute O, Viot G, Mégarbané A, Sefiani A, Munnich A, Le Merrer M, Cormier-Daire V. Thauvin-Robinet C, et al. Among authors: megarbane a. J Med Genet. 2002 Oct;39(10):714-7. doi: 10.1136/jmg.39.10.714. J Med Genet. 2002. PMID: 12362026 Free PMC article.

10

Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature.

Mégarbané A, Ghanem I, Le Merrer M. Mégarbané A, et al. Am J Med Genet A. 2003 Oct 15;122A(3):252-6. doi: 10.1002/ajmg.a.20262. Am J Med Genet A. 2003. PMID: 12966527 Review.

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