Aldahmesh MA - Search Results

1

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.

Aldahmesh MA, Li Y, Alhashem A, Anazi S, Alkuraya H, Hashem M, Awaji AA, Sogaty S, Alkharashi A, Alzahrani S, Al Hazzaa SA, Xiong Y, Kong S, Sun Z, Alkuraya FS. Aldahmesh MA, et al. Hum Mol Genet. 2014 Jun 15;23(12):3307-15. doi: 10.1093/hmg/ddu044. Epub 2014 Jan 31. Hum Mol Genet. 2014. PMID: 24488770 Free PMC article.

2

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. Abu Safieh L, et al. Among authors: aldahmesh ma. J Med Genet. 2010 Apr;47(4):236-41. doi: 10.1136/jmg.2009.070755. Epub 2009 Oct 26. J Med Genet. 2010. PMID: 19858128

3

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration.

Pretorius PR, Aldahmesh MA, Alkuraya FS, Sheffield VC, Slusarski DC. Pretorius PR, et al. Among authors: aldahmesh ma. Hum Mol Genet. 2011 Apr 15;20(8):1625-32. doi: 10.1093/hmg/ddr039. Epub 2011 Jan 31. Hum Mol Genet. 2011. PMID: 21282186 Free PMC article.

4

Identification of ADAMTS18 as a gene mutated in Knobloch syndrome.

Aldahmesh MA, Khan AO, Mohamed JY, Alkuraya H, Ahmed H, Bobis S, Al-Mesfer S, Alkuraya FS. Aldahmesh MA, et al. J Med Genet. 2011 Sep;48(9):597-601. doi: 10.1136/jmedgenet-2011-100306. J Med Genet. 2011. PMID: 21862674

5

Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.

Zahrani F, Aldahmesh MA, Alshammari MJ, Al-Hazzaa SA, Alkuraya FS. Zahrani F, et al. Among authors: aldahmesh ma. Am J Hum Genet. 2013 Mar 7;92(3):387-91. doi: 10.1016/j.ajhg.2013.01.008. Epub 2013 Feb 28. Am J Hum Genet. 2013. PMID: 23453665 Free PMC article.

6

Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy.

Shtir C, Aldahmesh MA, Al-Dahmash S, Abboud E, Alkuraya H, Abouammoh MA, Nowailaty SR, Al-Thubaiti G, Naim EA, ALYounes B, Binhumaid FS, ALOtaibi AB, Altamimi AS, Alamer FH, Hashem M, Abouelhoda M, Monies D, Alkuraya FS. Shtir C, et al. Among authors: aldahmesh ma. Hum Genet. 2016 Feb;135(2):193-200. doi: 10.1007/s00439-015-1624-8. Epub 2015 Dec 22. Hum Genet. 2016. PMID: 26693933

7

Congenital glaucoma and CYP1B1: an old story revisited.

Alsaif HS, Khan AO, Patel N, Alkuraya H, Hashem M, Abdulwahab F, Ibrahim N, Aldahmesh MA, Alkuraya FS. Alsaif HS, et al. Among authors: aldahmesh ma. Hum Genet. 2019 Sep;138(8-9):1043-1049. doi: 10.1007/s00439-018-1878-z. Epub 2018 Mar 19. Hum Genet. 2019. PMID: 29556725

8

Mutations in ALDH1A3 cause microphthalmia.

Aldahmesh MA, Khan AO, Hijazi H, Alkuraya FS. Aldahmesh MA, et al. Clin Genet. 2013 Aug;84(2):128-31. doi: 10.1111/cge.12184. Epub 2013 May 27. Clin Genet. 2013. PMID: 23646827

9

Genetic investigation of 93 families with microphthalmia or posterior microphthalmos.

Patel N, Khan AO, Alsahli S, Abdel-Salam G, Nowilaty SR, Mansour AM, Nabil A, Al-Owain M, Sogati S, Salih MA, Kamal AM, Alsharif H, Alsaif HS, Alzahrani SS, Abdulwahab F, Ibrahim N, Hashem M, Faquih T, Shah ZA, Abouelhoda M, Monies D, Dasouki M, Shaheen R, Wakil SM, Aldahmesh MA, Alkuraya FS. Patel N, et al. Among authors: aldahmesh ma. Clin Genet. 2018 Jun;93(6):1210-1222. doi: 10.1111/cge.13239. Epub 2018 Mar 25. Clin Genet. 2018. PMID: 29450879

10

Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies.

Patel N, Alkuraya H, Alzahrani SS, Nowailaty SR, Seidahmed MZ, Alhemidan A, Ben-Omran T, Ghazi NG, Al-Aqeel A, Al-Owain M, Alzaidan HI, Faqeih E, Kurdi W, Rahbeeni Z, Ibrahim N, Abdulwahab F, Hashem M, Shaheen R, Abouelhoda M, Monies D, Khan AO, Aldahmesh MA, Alkuraya FS. Patel N, et al. Among authors: aldahmesh ma. Clin Genet. 2018 Dec;94(6):554-563. doi: 10.1111/cge.13426. Epub 2018 Sep 3. Clin Genet. 2018. PMID: 30054919

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