Aldahmesh MA - Search Results

1

Mutations in LRPAP1 are associated with severe myopia in humans.

Aldahmesh MA, Khan AO, Alkuraya H, Adly N, Anazi S, Al-Saleh AA, Mohamed JY, Hijazi H, Prabakaran S, Tacke M, Al-Khrashi A, Hashem M, Reinheckel T, Assiri A, Alkuraya FS. Aldahmesh MA, et al. Am J Hum Genet. 2013 Aug 8;93(2):313-20. doi: 10.1016/j.ajhg.2013.06.002. Epub 2013 Jul 3. Am J Hum Genet. 2013. PMID: 23830514 Free PMC article.

2

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

3

Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations.

Aldahmesh MA, Khan AO, Mohamed J, Alkuraya FS. Aldahmesh MA, et al. Genet Med. 2011 Nov;13(11):978-81. doi: 10.1097/GIM.0b013e31822623d5. Genet Med. 2011. PMID: 21836522 Free 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

Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia.

Aldahmesh MA, Mohamed JY, Alkuraya HS, Verma IC, Puri RD, Alaiya AA, Rizzo WB, Alkuraya FS. Aldahmesh MA, et al. Am J Hum Genet. 2011 Dec 9;89(6):745-50. doi: 10.1016/j.ajhg.2011.10.011. Epub 2011 Nov 17. Am J Hum Genet. 2011. PMID: 22100072 Free PMC article.

6

Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.

Aldahmesh MA, Khan AO, Mohamed JY, Alghamdi MH, Alkuraya FS. Aldahmesh MA, et al. Hum Mutat. 2012 Jun;33(6):960-2. doi: 10.1002/humu.22071. Epub 2012 Apr 16. Hum Mutat. 2012. PMID: 22415731

7

Homozygous null mutation in ODZ3 causes microphthalmia in humans.

Aldahmesh MA, Mohammed JY, Al-Hazzaa S, Alkuraya FS. Aldahmesh MA, et al. Genet Med. 2012 Nov;14(11):900-4. doi: 10.1038/gim.2012.71. Epub 2012 Jul 5. Genet Med. 2012. PMID: 22766609 Free article.

8

Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes.

Aldahmesh MA, Khan AO, Mohamed JY, Hijazi H, Al-Owain M, Alswaid A, Alkuraya FS. Aldahmesh MA, et al. Genet Med. 2012 Dec;14(12):955-62. doi: 10.1038/gim.2012.86. Epub 2012 Aug 30. Genet Med. 2012. PMID: 22935719 Free article.

9

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.

10

The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18.

Aldahmesh MA, Alshammari MJ, Khan AO, Mohamed JY, Alhabib FA, Alkuraya FS. Aldahmesh MA, et al. Hum Mutat. 2013 Sep;34(9):1195-9. doi: 10.1002/humu.22374. Epub 2013 Jul 19. Hum Mutat. 2013. PMID: 23818446

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