Mohamed JY - Search Results

1

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. Among authors: mohamed jy. J Med Genet. 2011 Sep;48(9):597-601. doi: 10.1136/jmedgenet-2011-100306. J Med Genet. 2011. PMID: 21862674

2

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.

3

ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).

Patel N, Smith LL, Faqeih E, Mohamed J, Gupta VA, Alkuraya FS. Patel N, et al. Hum Mol Genet. 2014 Dec 15;23(24):6584-93. doi: 10.1093/hmg/ddu384. Epub 2014 Jul 23. Hum Mol Genet. 2014. PMID: 25055871 Free PMC article.

4

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. Among authors: mohamed jy. 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.

5

Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).

Khan AO, Aldahmesh MA, Mohamed JY, Alkuraya FS. Khan AO, et al. Among authors: mohamed jy. Ophthalmic Genet. 2012 Jun;33(2):89-95. doi: 10.3109/13816810.2011.634881. Epub 2012 Jan 9. Ophthalmic Genet. 2012. PMID: 22229851

6

The distinct ophthalmic phenotype of Knobloch syndrome in children.

Khan AO, Aldahmesh MA, Mohamed JY, Al-Mesfer S, Alkuraya FS. Khan AO, et al. Among authors: mohamed jy. Br J Ophthalmol. 2012 Jun;96(6):890-5. doi: 10.1136/bjophthalmol-2011-301396. Epub 2012 Mar 7. Br J Ophthalmol. 2012. PMID: 22399687

7

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. Among authors: mohamed jy. Hum Mutat. 2012 Jun;33(6):960-2. doi: 10.1002/humu.22071. Epub 2012 Apr 16. Hum Mutat. 2012. PMID: 22415731

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. Among authors: mohamed jy. 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

Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.

Alazami AM, Hijazi H, Al-Dosari MS, Shaheen R, Hashem A, Aldahmesh MA, Mohamed JY, Kentab A, Salih MA, Awaji A, Masoodi TA, Alkuraya FS. Alazami AM, et al. Among authors: mohamed jy. J Med Genet. 2013 Jul;50(7):425-30. doi: 10.1136/jmedgenet-2012-101378. Epub 2013 Apr 25. J Med Genet. 2013. PMID: 23620220

10

No evidence for locus heterogeneity in Knobloch syndrome.

Aldahmesh MA, Khan AO, Mohamed JY, Levin AV, Wuthisiri W, Lynch S, McCreery K, Alkuraya FS. Aldahmesh MA, et al. Among authors: mohamed jy. J Med Genet. 2013 Aug;50(8):565-6. doi: 10.1136/jmedgenet-2013-101755. Epub 2013 May 10. J Med Genet. 2013. PMID: 23667181 No abstract available.

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