Al Tassan N - Search Results

1

Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder.

Shinwari JM, Khan A, Awad S, Shinwari Z, Alaiya A, Alanazi M, Tahir A, Poizat C, Al Tassan N. Shinwari JM, et al. Among authors: al tassan n. Am J Hum Genet. 2015 Jan 8;96(1):147-52. doi: 10.1016/j.ajhg.2014.11.006. Epub 2014 Dec 11. Am J Hum Genet. 2015. PMID: 25500261 Free PMC article.

2

Congential fibrosis of the extraocular muscles type I (CFEOM1) on the Arabian Peninsula.

Khan AO, Khalil DS, Al-Tassan NA. Khan AO, et al. Ophthalmic Genet. 2008 Mar;29(1):25-8. doi: 10.1080/13816810701850058. Ophthalmic Genet. 2008. PMID: 18363169

3

Bilateral synergistic convergence associated with homozygous ROB03 mutation (p.Pro771Leu).

Khan AO, Oystreck DT, Al-Tassan N, Al-Sharif L, Bosley TM. Khan AO, et al. Among authors: al tassan n, al sharif l. Ophthalmology. 2008 Dec;115(12):2262-5. doi: 10.1016/j.ophtha.2008.08.010. Ophthalmology. 2008. PMID: 19041479

4

Synergistic divergence: a distinct ocular motility dysinnervation pattern.

Oystreck DT, Khan AO, Vila-Coro AA, Oworu O, Al-Tassan N, Chan WM, Engle EC, Bosley TM. Oystreck DT, et al. Among authors: al tassan n. Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5213-6. doi: 10.1167/iovs.08-2928. Epub 2009 Jul 2. Invest Ophthalmol Vis Sci. 2009. PMID: 19578026 Free PMC article.

5

Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.

Morales J, Al-Sharif L, Khalil DS, Shinwari JM, Bavi P, Al-Mahrouqi RA, Al-Rajhi A, Alkuraya FS, Meyer BF, Al Tassan N. Morales J, et al. Among authors: al mahrouqi ra, al rajhi a, al tassan n, al sharif l. Am J Hum Genet. 2009 Nov;85(5):558-68. doi: 10.1016/j.ajhg.2009.09.011. Am J Hum Genet. 2009. PMID: 19836009 Free PMC article.

6

Mutations in KIF21A and PHOX2A are absent in 16 patients with congenital vertical incomitant strabismus.

Khan AO, Khalil DS, Al-Sharif LJ, Al-Tassan NA. Khan AO, et al. Ophthalmic Genet. 2009 Dec;30(4):206-7. doi: 10.3109/13816810903183613. Ophthalmic Genet. 2009. PMID: 19852579 No abstract available.

7

Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles.

Khan AO, Khalil DS, Al Sharif LJ, Al-Ghadhfan FE, Al Tassan NA. Khan AO, et al. Ophthalmology. 2010 Jan;117(1):154-8. doi: 10.1016/j.ophtha.2009.06.029. Epub 2009 Nov 5. Ophthalmology. 2010. PMID: 19896199

8

Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families.

Khan AO, Shinwari J, Omar A, Al-Sharif L, Khalil DS, Alanazi M, Al-Amri A, Al Tassan N. Khan AO, et al. Among authors: al amri a, al tassan n, al sharif l. Mol Vis. 2011 Jan 20;17:218-24. Mol Vis. 2011. PMID: 21264235 Free PMC article.

9

Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.

Bohlega SA, Shinwari JM, Al Sharif LJ, Khalil DS, Alkhairallah TS, Al Tassan NA. Bohlega SA, et al. BMC Med Genet. 2011 Feb 16;12:27. doi: 10.1186/1471-2350-12-27. BMC Med Genet. 2011. PMID: 21324166 Free PMC article.

10

The optic nerve head in congenital fibrosis of the extraocular muscles.

Khan AO, Shinwari J, Omar A, Khalil D, Al-Anazi M, Al-Amri A, Al-Tassan NA. Khan AO, et al. Ophthalmic Genet. 2011 Sep;32(3):175-80. doi: 10.3109/13816810.2011.567318. Epub 2011 Mar 31. Ophthalmic Genet. 2011. PMID: 21449832

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