Traboulsi EI - Search Results

1

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. Among authors: traboulsi ei. Am J Med Genet. 1999 Mar 12;83(2):82-7. Am J Med Genet. 1999. PMID: 10190477

2

Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.

Patel N, Khan AO, Mansour A, Mohamed JY, Al-Assiri A, Haddad R, Jia X, Xiong Y, Mégarbané A, Traboulsi EI, Alkuraya FS. Patel N, et al. Among authors: traboulsi ei. Am J Hum Genet. 2014 May 1;94(5):755-9. doi: 10.1016/j.ajhg.2014.04.002. Epub 2014 Apr 24. Am J Hum Genet. 2014. PMID: 24768550 Free PMC article.

3

Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance.

Haddad R, Uwaydat S, Dakroub R, Traboulsi EI. Haddad R, et al. Among authors: traboulsi ei. Am J Med Genet. 2001 Mar 15;99(3):185-9. doi: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1156>3.0.co;2-v. Am J Med Genet. 2001. PMID: 11241487

4

Ocular pathology in congenital heart disease.

Mansour AM, Bitar FF, Traboulsi EI, Kassak KM, Obeid MY, Megarbane A, Salti HI. Mansour AM, et al. Among authors: traboulsi ei. Eye (Lond). 2005 Jan;19(1):29-34. doi: 10.1038/sj.eye.6701408. Eye (Lond). 2005. PMID: 15184955

5

Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome.

Traboulsi E, Waked N, Mégarbané H, Mégarbané A. Traboulsi E, et al. Ophthalmic Genet. 2004 Jun;25(2):153-6. doi: 10.1080/13816810490514405. Ophthalmic Genet. 2004. PMID: 15370546

6

A family with a syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism.

Shawaf S, Noureddin B, Khouri A, Traboulsi EI. Shawaf S, et al. Among authors: traboulsi ei. Ophthalmic Genet. 1995 Dec;16(4):163-9. doi: 10.3109/13816819509057858. Ophthalmic Genet. 1995. PMID: 8749053

7

Colobomatous microphthalmia and orbital neuroglial cyst: case report.

Garcia LM, Castro E, Foster JA, Green RW, Traboulsi EI. Garcia LM, et al. Among authors: traboulsi ei. Ophthalmic Genet. 2002 Mar;23(1):37-42. doi: 10.1076/opge.23.1.37.2205. Ophthalmic Genet. 2002. PMID: 11910557

8

Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.

Kolehmainen J, Wilkinson R, Lehesjoki AE, Chandler K, Kivitie-Kallio S, Clayton-Smith J, Träskelin AL, Waris L, Saarinen A, Khan J, Gross-Tsur V, Traboulsi EI, Warburg M, Fryns JP, Norio R, Black GC, Manson FD. Kolehmainen J, et al. Among authors: traboulsi ei. Am J Hum Genet. 2004 Jul;75(1):122-7. doi: 10.1086/422197. Epub 2004 May 12. Am J Hum Genet. 2004. PMID: 15141358 Free PMC article.

9

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.

Ferda Percin E, Ploder LA, Yu JJ, Arici K, Horsford DJ, Rutherford A, Bapat B, Cox DW, Duncan AM, Kalnins VI, Kocak-Altintas A, Sowden JC, Traboulsi E, Sarfarazi M, McInnes RR. Ferda Percin E, et al. Nat Genet. 2000 Aug;25(4):397-401. doi: 10.1038/78071. Nat Genet. 2000. PMID: 10932181

10

Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2.

Ariss M, Natan K, Friedman N, Traboulsi EI. Ariss M, et al. Among authors: traboulsi ei. Ophthalmic Genet. 2012 Sep;33(3):159-60. doi: 10.3109/13816810.2011.610860. Epub 2012 Apr 9. Ophthalmic Genet. 2012. PMID: 22486326

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