Abu-Safieh L - Search Results

1

RP1 protein truncating mutations predominate at the RP1 adRP locus.

Payne A, Vithana E, Khaliq S, Hameed A, Deller J, Abu-Safieh L, Kermani S, Leroy BP, Mehdi SQ, Moore AT, Bird AC, Bhattacharya SS. Payne A, et al. Invest Ophthalmol Vis Sci. 2000 Dec;41(13):4069-73. Invest Ophthalmol Vis Sci. 2000. PMID: 11095597

2

Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?

Vithana EN, Abu-Safieh L, Pelosini L, Winchester E, Hornan D, Bird AC, Hunt DM, Bustin SA, Bhattacharya SS. Vithana EN, et al. Invest Ophthalmol Vis Sci. 2003 Oct;44(10):4204-9. doi: 10.1167/iovs.03-0253. Invest Ophthalmol Vis Sci. 2003. PMID: 14507862

3

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.

Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS. Chakarova CF, et al. Hum Mol Genet. 2002 Jan 1;11(1):87-92. doi: 10.1093/hmg/11.1.87. Hum Mol Genet. 2002. PMID: 11773002

4

A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease.

Abu-Safieh L, Vithana EN, Mantel I, Holder GE, Pelosini L, Bird AC, Bhattacharya SS. Abu-Safieh L, et al. Mol Vis. 2006 Apr 18;12:384-8. Mol Vis. 2006. PMID: 16636657 Free article.

5

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).

Vithana EN, Abu-Safieh L, Allen MJ, Carey A, Papaioannou M, Chakarova C, Al-Maghtheh M, Ebenezer ND, Willis C, Moore AT, Bird AC, Hunt DM, Bhattacharya SS. Vithana EN, et al. Mol Cell. 2001 Aug;8(2):375-81. doi: 10.1016/s1097-2765(01)00305-7. Mol Cell. 2001. PMID: 11545739 Free article.

6

Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.

Abd El-Aziz MM, Barragan I, O'Driscoll C, Borrego S, Abu-Safieh L, Pieras JI, El-Ashry MF, Prigmore E, Carter N, Antinolo G, Bhattacharya SS. Abd El-Aziz MM, et al. Ann Hum Genet. 2008 Jul;72(Pt 4):463-77. doi: 10.1111/j.1469-1809.2008.00455.x. Epub 2007 May 29. Ann Hum Genet. 2008. PMID: 18510646 Free PMC article.

7

RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism.

Al-Rashed M, Abu Safieh L, Alkuraya H, Aldahmesh MA, Alzahrani J, Diya M, Hashem M, Hardcastle AJ, Al-Hazzaa SA, Alkuraya FS. Al-Rashed M, et al. Br J Ophthalmol. 2012 Jul;96(7):1018-22. doi: 10.1136/bjophthalmol-2011-301134. Epub 2012 Feb 8. Br J Ophthalmol. 2012. PMID: 22317909

8

Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs.

Barragán I, Borrego S, Abd El-Aziz MM, El-Ashry MF, Abu-Safieh L, Bhattacharya SS, Antiñolo G. Barragán I, et al. Ann Hum Genet. 2008 Jan;72(Pt 1):26-34. doi: 10.1111/j.1469-1809.2007.00393.x. Epub 2007 Sep 5. Ann Hum Genet. 2008. PMID: 17803723

9

The RPGRIP1-related retinal phenotype in children.

Khan AO, Abu-Safieh L, Eisenberger T, Bolz HJ, Alkuraya FS. Khan AO, et al. Br J Ophthalmol. 2013 Jun;97(6):760-4. doi: 10.1136/bjophthalmol-2012-303050. Epub 2013 Mar 16. Br J Ophthalmol. 2013. PMID: 23505306

10

Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.

Khan AO, Aldahmesh MA, Abu-Safieh L, Alkuraya FS. Khan AO, et al. Ophthalmic Genet. 2014 Sep;35(3):130-7. doi: 10.3109/13816810.2013.804097. Epub 2013 Jun 14. Ophthalmic Genet. 2014. PMID: 23767994

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