Aldahmesh MA - Search Results

1

Recessive mutations in LEPREL1 underlie a recognizable lens subluxation phenotype.

Khan AO, Aldahmesh MA, Alsharif H, Alkuraya FS. Khan AO, et al. Among authors: aldahmesh ma. Ophthalmic Genet. 2015 Mar;36(1):58-63. doi: 10.3109/13816810.2014.985847. Epub 2014 Dec 3. Ophthalmic Genet. 2015. PMID: 25469533

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

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

4

Characterization of CTNS mutations in Arab patients with cystinosis.

Aldahmesh MA, Humeidan A, Almojalli HA, Khan AO, Rajab M, AL-Abbad AA, Meyer BF, Alkuraya FS. Aldahmesh MA, et al. Ophthalmic Genet. 2009 Dec;30(4):185-9. doi: 10.3109/13816810903200953. Ophthalmic Genet. 2009. PMID: 19852576

5

Corneal decompensation in recessive cornea plana.

Khan AO, Aldahmesh MA, Al-Gehedan S, Meyer BF, Alkuraya FS. Khan AO, et al. Among authors: aldahmesh ma. Ophthalmic Genet. 2009 Sep;30(3):142-5. doi: 10.1080/13816810902937084. Ophthalmic Genet. 2009. PMID: 19941419

6

Helicoid subretinal fibrosis associated with a novel recessive NR2E3 mutation p.S44X.

Khan AO, Aldahmesh MA, Al-Harthi E, Alkuraya FS. Khan AO, et al. Among authors: aldahmesh ma. Arch Ophthalmol. 2010 Mar;128(3):344-8. doi: 10.1001/archophthalmol.2010.15. Arch Ophthalmol. 2010. PMID: 20212206

7

Molecular characterization of newborn glaucoma including a distinct aniridic phenotype.

Khan AO, Aldahmesh MA, Al-Abdi L, Mohamed JY, Hashem M, Al-Ghamdi I, Alkuraya FS. Khan AO, et al. Among authors: aldahmesh ma. Ophthalmic Genet. 2011 Sep;32(3):138-42. doi: 10.3109/13816810.2010.544365. Epub 2011 Feb 9. Ophthalmic Genet. 2011. PMID: 21306220

8

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.

9

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

10

Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations.

Khan AO, Aldahmesh MA, Alkuraya FS. Khan AO, et al. Among authors: aldahmesh ma. Mol Vis. 2011;17:2570-9. Epub 2011 Oct 4. Mol Vis. 2011. PMID: 22025892 Free PMC article.

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