Aldahmesh MA - Search Results

1

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

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

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

4

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

5

Genetic and genomic analysis of classic aniridia in Saudi Arabia.

Khan AO, Aldahmesh MA, Alkuraya FS. Khan AO, et al. Among authors: aldahmesh ma. Mol Vis. 2011 Mar 11;17:708-14. Mol Vis. 2011. PMID: 21423868 Free PMC article.

6

Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations.

Khan AO, Al-Abdi L, Mohamed JY, Aldahmesh MA, Alkuraya FS. Khan AO, et al. Among authors: aldahmesh ma. J AAPOS. 2011 Apr;15(2):198-9. doi: 10.1016/j.jaapos.2011.01.156. J AAPOS. 2011. PMID: 21596299

7

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.

8

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.

9

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: aldahmesh ma. Ophthalmic Genet. 2012 Jun;33(2):89-95. doi: 10.3109/13816810.2011.634881. Epub 2012 Jan 9. Ophthalmic Genet. 2012. PMID: 22229851

10

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: aldahmesh ma. 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

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