Bosley TM - Search Results

1

Biallelic mutations in human DCC cause developmental split-brain syndrome.

Jamuar SS, Schmitz-Abe K, D'Gama AM, Drottar M, Chan WM, Peeva M, Servattalab S, Lam AN, Delgado MR, Clegg NJ, Zayed ZA, Dogar MA, Alorainy IA, Jamea AA, Abu-Amero K, Griebel M, Ward W, Lein ES, Markianos K, Barkovich AJ, Robson CD, Grant PE, Bosley TM, Engle EC, Walsh CA, Yu TW. Jamuar SS, et al. Among authors: bosley tm. Nat Genet. 2017 Apr;49(4):606-612. doi: 10.1038/ng.3804. Epub 2017 Feb 27. Nat Genet. 2017. PMID: 28250456 Free PMC article.

2

Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development.

Tischfield MA, Bosley TM, Salih MA, Alorainy IA, Sener EC, Nester MJ, Oystreck DT, Chan WM, Andrews C, Erickson RP, Engle EC. Tischfield MA, et al. Among authors: bosley tm. Nat Genet. 2005 Oct;37(10):1035-7. doi: 10.1038/ng1636. Epub 2005 Sep 11. Nat Genet. 2005. PMID: 16155570

3

Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2.

Khan AO, Almutlaq M, Oystreck DT, Engle EC, Abu-Amero K, Bosley T. Khan AO, et al. Ophthalmic Genet. 2016 Jun;37(2):130-6. doi: 10.3109/13816810.2014.926942. Epub 2014 Jun 18. Ophthalmic Genet. 2016. PMID: 24940936 Free PMC article.

4

The clinical spectrum of homozygous HOXA1 mutations.

Bosley TM, Alorainy IA, Salih MA, Aldhalaan HM, Abu-Amero KK, Oystreck DT, Tischfield MA, Engle EC, Erickson RP. Bosley TM, et al. Am J Med Genet A. 2008 May 15;146A(10):1235-40. doi: 10.1002/ajmg.a.32262. Am J Med Genet A. 2008. PMID: 18412118 Free PMC article.

5

Ophthalmologic abnormalities in a de novo terminal 6q deletion.

Abu-Amero KK, Hellani A, Salih MA, Al Hussain A, al Obailan M, Zidan G, Alorainy IA, Bosley TM. Abu-Amero KK, et al. Among authors: bosley tm. Ophthalmic Genet. 2010 Mar;31(1):1-11. doi: 10.3109/13816810903312535. Ophthalmic Genet. 2010. PMID: 20141352

6

Optic disk and white matter abnormalities in a patient with a de novo 18p partial monosomy.

Abu-Amero KK, Hellani A, Salih MA, Alorainy IA, Zidan G, Kern KC, Sicotte NL, Bosley TM. Abu-Amero KK, et al. Among authors: bosley tm. Ophthalmic Genet. 2010 Sep;31(3):147-54. doi: 10.3109/13816810.2010.492817. Ophthalmic Genet. 2010. PMID: 20565246

7

Assessing mitochondrial DNA nucleotide changes in spontaneous optic neuropathies.

Bosley TM, Abu-Amero KK. Bosley TM, et al. Ophthalmic Genet. 2010 Dec;31(4):163-72. doi: 10.3109/13816810.2010.514015. Ophthalmic Genet. 2010. PMID: 21067478

8

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.

9

Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations.

Abu-Amero KK, Faletra F, Gasparini P, Parentin F, Pensiero S, Alorainy IA, Hellani AM, Catalano D, Bosley TM. Abu-Amero KK, et al. Among authors: bosley tm. Ophthalmic Genet. 2011 Nov;32(4):212-6. doi: 10.3109/13816810.2011.574186. Epub 2011 Apr 21. Ophthalmic Genet. 2011. PMID: 21510772

10

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

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