Mégarbané A - Search Results

1

A multiplex family with possible metaphyseal Spahr-type dysplasia and exclusion of RMRP and COL10A1 as candidate genes.

Mégarbané A, Chouery E, Ghanem I. Mégarbané A, et al. Am J Med Genet A. 2008 Jul 15;146A(14):1865-70. doi: 10.1002/ajmg.a.32390. Am J Med Genet A. 2008. PMID: 18553549

2

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

3

New form of hidrotic ectodermal dysplasia in a Lebanese family.

Mégarbané A, Noujeim Z, Fabre M, Der Kaloustian VM. Mégarbané A, et al. Am J Med Genet. 1998 Jan 13;75(2):196-9. Am J Med Genet. 1998. PMID: 9450885

4

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.

5

Autosomal dominant secundum atrial septal defect with various cardiac and noncardiac defects: a new midline disorder.

Mégarbané A, Stephan E, Kassab R, Ashoush R, Salem N, Bouvagnet P, Loiselet J. Mégarbané A, et al. Am J Med Genet. 1999 Mar 19;83(3):193-200. doi: 10.1002/(sici)1096-8628(19990319)83:3<193::aid-ajmg10>3.0.co;2-m. Am J Med Genet. 1999. PMID: 10096596

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

Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients.

Medlej-Hashim M, Rawashdeh M, Chouery E, Mansour I, Delague V, Lefranc G, Naman R, Loiselet J, Mégarbané A. Medlej-Hashim M, et al. Among authors: megarbane a. Hum Mutat. 2000 Apr;15(4):384. doi: 10.1002/(SICI)1098-1004(200004)15:4<384::AID-HUMU19>3.0.CO;2-U. Hum Mutat. 2000. PMID: 10737992

10

Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance?

Mégarbané A, Desguerres I, Rizkallah E, Delague V, Nabbout R, Barois A, Urtizberea A. Mégarbané A, et al. Am J Med Genet. 2000 May 15;92(2):117-21. doi: 10.1002/(sici)1096-8628(20000515)92:2<117::aid-ajmg7>3.0.co;2-c. Am J Med Genet. 2000. PMID: 10797435 Review.

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

399 results

Search Page

Filters