Bosley TM - Search Results

1

New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations.

Salih MA, Mundwiller E, Khan AO, AlDrees A, Elmalik SA, Hassan HH, Al-Owain M, Alkhalidi HM, Katona I, Kabiraj MM, Chrast R, Kentab AY, Alzaidan H, Rodenburg RJ, Bosley TM, Weis J, Koenig M, Stevanin G, Azzedine H. Salih MA, et al. Among authors: bosley tm. PLoS One. 2013 Oct 9;8(10):e76831. doi: 10.1371/journal.pone.0076831. eCollection 2013. PLoS One. 2013. PMID: 24130795 Free PMC article.

2

The neurology of carbonic anhydrase type II deficiency syndrome.

Bosley TM, Salih MA, Alorainy IA, Islam MZ, Oystreck DT, Suliman OS, al Malki S, Suhaibani AH, Khiari H, Beckers S, van Wesenbeeck L, Perdu B, AlDrees A, Elmalik SA, Van Hul W, Abu-Amero KK. Bosley TM, et al. Brain. 2011 Dec;134(Pt 12):3502-15. doi: 10.1093/brain/awr302. Epub 2011 Nov 26. Brain. 2011. PMID: 22120147

3

When straight eyes won't move: phenotypic overlap of genetically distinct ocular motility disturbances.

Oystreck DT, Salih MA, Bosley TM. Oystreck DT, et al. Among authors: bosley tm. Can J Ophthalmol. 2011 Dec;46(6):477-80. doi: 10.1016/j.jcjo.2011.09.009. Can J Ophthalmol. 2011. PMID: 22153632

4

A newly recognized autosomal recessive syndrome affecting neurologic function and vision.

Salih MA, Tzschach A, Oystreck DT, Hassan HH, AlDrees A, Elmalik SA, El Khashab HY, Wienker TF, Abu-Amero KK, Bosley TM. Salih MA, et al. Among authors: bosley tm. Am J Med Genet A. 2013 Jun;161A(6):1207-13. doi: 10.1002/ajmg.a.35850. Epub 2013 Apr 30. Am J Med Genet A. 2013. PMID: 23633300

5

Duane retraction syndrome in a patient with Duchenne muscular dystrophy.

Bosley TM, Salih MA, Alkhalidi H, Oystreck DT, El Khashab HY, Kondkar AA, Abu-Amero KK. Bosley TM, et al. Ophthalmic Genet. 2016 Sep;37(3):276-80. doi: 10.3109/13816810.2015.1039139. Epub 2016 Feb 5. Ophthalmic Genet. 2016. PMID: 26849454

6

NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS-SAYRE SYNDROME.

Kozak I, Oystreck DT, Abu-Amero KK, Nowilaty SR, Alkhalidi H, Elkhamary SM, Mohamed S, Hamad MHA, Salih MA, Blakely EL, Taylor RW, Bosley TM. Kozak I, et al. Among authors: bosley tm. Retin Cases Brief Rep. 2018 Fall;12(4):349-358. doi: 10.1097/ICB.0000000000000503. Retin Cases Brief Rep. 2018. PMID: 28296806

7

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis.

Salih MA, Abu-Amero KK, Alrasheed S, Alorainy IA, Liu L, McGrath JA, Van Maldergem L, Al-Faky YH, AlSuhaibani AH, Oystreck DT, Bosley TM. Salih MA, et al. Among authors: bosley tm. BMC Med Genet. 2011 Feb 24;12:31. doi: 10.1186/1471-2350-12-31. BMC Med Genet. 2011. PMID: 21349189 Free PMC article.

8

Prominent corneal nerves: a novel sign of lipoid proteinosis.

Al-Faky YH, Bosley TM, Al-Turki T, Salih MA, Abu-Amero KK, Alsuhaibani AH. Al-Faky YH, et al. Among authors: bosley tm. Br J Ophthalmol. 2012 Jul;96(7):935-40. doi: 10.1136/bjophthalmol-2012-301617. Epub 2012 May 12. Br J Ophthalmol. 2012. PMID: 22581399

9

Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder.

Abu-Amero KK, Kondkar AA, Salih MA, Alorainy IA, Khan AO, Oystreck DT, Bosley TM. Abu-Amero KK, et al. Among authors: bosley tm. Ophthalmic Genet. 2013 Mar-Jun;34(1-2):90-6. doi: 10.3109/13816810.2012.718850. Epub 2012 Sep 6. Ophthalmic Genet. 2013. PMID: 22950449

10

Microdeletions involving chromosomes 12 and 22 associated with syndromic Duane retraction syndrome.

Abu-Amero KK, Kondkar AA, Oystreck DT, Khan AO, Bosley TM. Abu-Amero KK, et al. Among authors: bosley tm. Ophthalmic Genet. 2014 Sep;35(3):162-9. doi: 10.3109/13816810.2014.921317. Epub 2014 May 27. Ophthalmic Genet. 2014. PMID: 24865192

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