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Items: 1 to 20 of 76

1.

Ocular genetic disease in the Middle East.

Khan AO.

Curr Opin Ophthalmol. 2013 Sep;24(5):369-78. doi: 10.1097/ICU.0b013e3283638374. Review.

PMID:
23846189
2.

Recessive cornea plana in the Kingdom of Saudi Arabia.

Khan AO, Aldahmesh M, Meyer B.

Ophthalmology. 2006 Oct;113(10):1773-8.

PMID:
17011957
3.

Genetic diversity among the Arabs.

Teebi AS, Teebi SA.

Community Genet. 2005;8(1):21-6. Review.

PMID:
15767750
4.

A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.

Cohen B, Chervinsky E, Jabaly-Habib H, Shalev SA, Briscoe D, Ben-Yosef T.

Mol Vis. 2012;18:2915-21.

5.

Microcornea with myopic chorioretinal atrophy, telecanthus and posteriorly-rotated ears: a distinct clinical syndrome.

Khan AO.

Ophthalmic Genet. 2012 Dec;33(4):196-9. doi: 10.3109/13816810.2012.681097. Erratum in: Ophthalmic Genet. 2013 Sep;34(3):182.

PMID:
22686506
7.

A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1.

Hmani-Aifa M, Ben Salem S, Benzina Z, Bouassida W, Messaoud R, Turki K, Khairallah M, Rebaï A, Fakhfekh F, Söderkvist P, Ayadi H.

Hum Genet. 2009 Oct;126(4):575-87. doi: 10.1007/s00439-009-0688-8.

PMID:
19526372
8.

RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.

Davidson AE, Sergouniotis PI, Mackay DS, Wright GA, Waseem NH, Michaelides M, Holder GE, Robson AG, Moore AT, Plagnol V, Webster AR.

Hum Mutat. 2013 Mar;34(3):506-14. doi: 10.1002/humu.22264.

PMID:
23281133
9.

Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations.

Mizrachi-Koren M, Shemer S, Morgan M, Indelman M, Khamaysi Z, Petronius D, Bitterman-Deutsch O, Hennies HC, Bergman R, Sprecher E.

J Am Acad Dermatol. 2006 Sep;55(3):393-401.

PMID:
16908342
10.

Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy.

Iseri SU, Wyatt AW, Nürnberg G, Kluck C, Nürnberg P, Holder GE, Blair E, Salt A, Ragge NK.

Hum Genet. 2010 Jul;128(1):51-60. doi: 10.1007/s00439-010-0823-6.

PMID:
20414678
11.
12.

Combined immunodeficiency: the Middle East experience.

Al-Herz W, Al-Mousa H.

J Allergy Clin Immunol. 2013 Mar;131(3):658-60. doi: 10.1016/j.jaci.2012.11.033. Review.

PMID:
23321211
13.

Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma.

Ali M, Buentello-Volante B, McKibbin M, Rocha-Medina JA, Fernandez-Fuentes N, Koga-Nakamura W, Ashiq A, Khan K, Booth AP, Williams G, Raashid Y, Jafri H, Rice A, Inglehearn CF, Zenteno JC.

Mol Vis. 2010 Jun 23;16:1162-8.

14.

Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.

Benayoun L, Spiegel R, Auslender N, Abbasi AH, Rizel L, Hujeirat Y, Salama I, Garzozi HJ, Allon-Shalev S, Ben-Yosef T.

Am J Med Genet A. 2009 Feb 15;149A(4):650-6. doi: 10.1002/ajmg.a.32634.

PMID:
19140180
15.

New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping.

Pereiro I, Valverde D, Piñeiro-Gallego T, Baiget M, Borrego S, Ayuso C, Searby C, Nishimura D.

Mol Vis. 2010 Feb 1;16:137-43.

16.

Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.

Abu Safieh L, Aldahmesh MA, Shamseldin H, Hashem M, Shaheen R, Alkuraya H, Al Hazzaa SA, Al-Rajhi A, Alkuraya FS.

J Med Genet. 2010 Apr;47(4):236-41. doi: 10.1136/jmg.2009.070755.

PMID:
19858128
17.

A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.

Reddy MA, Francis PJ, Berry V, Bradshaw K, Patel RJ, Maher ER, Kumar R, Bhattacharya SS, Moore AT.

Br J Ophthalmol. 2003 Feb;87(2):197-202.

18.

High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.

Collin RW, van den Born LI, Klevering BJ, de Castro-Miró M, Littink KW, Arimadyo K, Azam M, Yazar V, Zonneveld MN, Paun CC, Siemiatkowska AM, Strom TM, Hehir-Kwa JY, Kroes HY, de Faber JT, van Schooneveld MJ, Heckenlively JR, Hoyng CB, den Hollander AI, Cremers FP.

Invest Ophthalmol Vis Sci. 2011 Apr 6;52(5):2227-39. doi: 10.1167/iovs.10-6185.

PMID:
21217109
19.

Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.

Siemiatkowska AM, Arimadyo K, Moruz LM, Astuti GD, de Castro-Miro M, Zonneveld MN, Strom TM, de Wijs IJ, Hoefsloot LH, Faradz SM, Cremers FP, den Hollander AI, Collin RW.

Mol Vis. 2011;17:3013-24.

20.

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.

Audo I, Bujakowska K, Mohand-Saïd S, Tronche S, Lancelot ME, Antonio A, Germain A, Lonjou C, Carpentier W, Sahel JA, Bhattacharya S, Zeitz C.

Mol Vis. 2011;17:1598-606.

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