Mégarbané A - Search Results

1

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.

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

Interstitial duplication of the short arm of chromosome 2: report of a new case and review.

Mégarbané A, Souraty N, Prieur M, Theophile D, Chédid P, Augé J, Vekemans M. Mégarbané A, et al. J Med Genet. 1997 Sep;34(9):783-6. doi: 10.1136/jmg.34.9.783. J Med Genet. 1997. PMID: 9321771 Free PMC article. Review.

4

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

5

Four sibs with dislocated elbows, bowed tibiae, scoliosis, deafness, cataract, microcephaly, and mental retardation: a new MCA/MR syndrome.

Mégarbané A, Kharrat K, Kreichati G. Mégarbané A, et al. J Med Genet. 1998 Sep;35(9):755-8. doi: 10.1136/jmg.35.9.755. J Med Genet. 1998. PMID: 9733034 Free PMC article.

6

Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: a new MCA/MR syndrome?

Mégarbané A, Haddad-Zebouni S, Nabbout R, Khoury AH, Traboulsi EI. Mégarbané A, et al. Am J Med Genet. 1999 Mar 12;83(2):82-7. Am J Med Genet. 1999. PMID: 10190477

7

Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?

Mégarbané A, Choueiri R, Bleik J, Mezzina M, Caillaud C. Mégarbané A, et al. J Med Genet. 1999 Aug;36(8):637-40. J Med Genet. 1999. PMID: 10465117 Free PMC article.

8

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

9

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.

10

Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.

Delague V, Bareil C, Tuffery S, Bouvagnet P, Chouery E, Koussa S, Maisonobe T, Loiselet J, Mégarbané A, Claustres M. Delague V, et al. Among authors: megarbane a. Am J Hum Genet. 2000 Jul;67(1):236-43. doi: 10.1086/302980. Epub 2000 Jun 2. Am J Hum Genet. 2000. PMID: 10848494 Free PMC article.

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