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Items: 1 to 20 of 82

1.

Bilateral complete labyrinthine aplasia with bilateral internal carotid artery aplasia, developmental delay, and gaze abnormalities: a presumptive case of a rare HOXA1 mutation syndrome.

Higley MJ, Walkiewicz TW, Miller JH, Curran JG, Towbin RB.

AJNR Am J Neuroradiol. 2011 Feb;32(2):E23-5. doi: 10.3174/ajnr.A1969. Epub 2010 Jan 14.

2.

Clinical characterization of the HOXA1 syndrome BSAS variant.

Bosley TM, Salih MA, Alorainy IA, Oystreck DT, Nester M, Abu-Amero KK, Tischfield MA, Engle EC.

Neurology. 2007 Sep 18;69(12):1245-53.

3.

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.

Nat Genet. 2005 Oct;37(10):1035-7. Epub 2005 Sep 11.

PMID:
16155570
4.

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.

Ophthalmic Genet. 2013 Mar-Jun;34(1-2):90-6. doi: 10.3109/13816810.2012.718850. Epub 2012 Sep 6.

PMID:
22950449
5.

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.

Am J Med Genet A. 2008 May 15;146A(10):1235-40. doi: 10.1002/ajmg.a.32262.

6.
7.

Allelic ROBO3 heterogeneity in Tunisian patients with horizontal gaze palsy with progressive scoliosis.

Amouri R, Nehdi H, Bouhlal Y, Kefi M, Larnaout A, Hentati F.

J Mol Neurosci. 2009 Nov;39(3):337-41. doi: 10.1007/s12031-009-9217-4. Epub 2009 Jul 25.

PMID:
19633821
8.

[Bilateral aplasia of the internal carotid artery: a case report].

Fujimoto K, Ohnishi H, Koshimae N, Ida Y, Kanemoto Y, Motoyama Y.

No Shinkei Geka. 1998 Dec;26(12):1093-5. Japanese.

PMID:
9883449
9.

Athabascan brainstem dysgenesis syndrome.

Holve S, Friedman B, Hoyme HE, Tarby TJ, Johnstone SJ, Erickson RP, Clericuzio CL, Cunniff C.

Am J Med Genet A. 2003 Jul 15;120A(2):169-73.

PMID:
12833395
10.

Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3.

Bosley TM, Salih MA, Jen JC, Lin DD, Oystreck D, Abu-Amero KK, MacDonald DB, al Zayed Z, al Dhalaan H, Kansu T, Stigsby B, Baloh RW.

Neurology. 2005 Apr 12;64(7):1196-203.

PMID:
15824346
11.

Ophthalmic features of Joubert syndrome.

Khan AO, Oystreck DT, Seidahmed MZ, AlDrees A, Elmalik SA, Alorainy IA, Salih MA.

Ophthalmology. 2008 Dec;115(12):2286-9. doi: 10.1016/j.ophtha.2008.08.005.

PMID:
19041481
12.

MRI of bilateral internal carotid artery agenesis.

Welman CJ, Khangure MS.

Australas Radiol. 2007 Oct;51 Spec No.:B25-7.

PMID:
17875148
13.

Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation.

Chang BS, Piao X, Giannini C, Cascino GD, Scheffer I, Woods CG, Topcu M, Tezcan K, Bodell A, Leventer RJ, Barkovich AJ, Grant PE, Walsh CA.

Neurology. 2004 May 25;62(10):1722-8. Review.

PMID:
15159468
14.

Wildervanck's syndrome with severe inner ear dysplasia and agenesis of the right internal carotid artery.

Hernando M, Urbasos M, Amarillo VE, Herrera MT, García-Peces V, Plaza G.

Int J Pediatr Otorhinolaryngol. 2014 Apr;78(4):704-6. doi: 10.1016/j.ijporl.2014.01.036. Epub 2014 Feb 7.

PMID:
24576452
15.

MR imaging features of brain stem hypoplasia in familial horizontal gaze palsy and scoliosis.

dos Santos AV, Matias S, Saraiva P, Goulão A.

AJNR Am J Neuroradiol. 2006 Jun-Jul;27(6):1382-3.

16.

Bilateral aberrant internal carotid arteries with bilateral persistent stapedial arteries and bilateral duplicated internal carotid arteries.

Roll JD, Urban MA, Larson TC 3rd, Gailloud P, Jacob P, Harnsberger HR.

AJNR Am J Neuroradiol. 2003 Apr;24(4):762-5.

17.

Radiologic evidence for absence of the facial nerve in Möbius syndrome.

Verzijl HT, Valk J, de Vries R, Padberg GW.

Neurology. 2005 Mar 8;64(5):849-55.

PMID:
15753421
18.

Complete labyrinthine aplasia: clinical and radiologic findings with review of the literature.

Ozgen B, Oguz KK, Atas A, Sennaroglu L.

AJNR Am J Neuroradiol. 2009 Apr;30(4):774-80. doi: 10.3174/ajnr.A1426. Epub 2009 Jan 15. Review.

19.

[Unilateral agenesis of the internal carotid artery in childhood: description of a case].

Martínez-Granero MA, Martínez-Bermejo A, Arcas J, González T, Viaño J, López-Martín V, Pascual-Castroviejo I.

Rev Neurol. 1997 Aug;25(144):1207-9. Spanish.

PMID:
9340150
20.

A case of Joubert's syndrome with extensive cerebral malformations.

ten Donkelaar HJ, Hoevenaars F, Wesseling P.

Clin Neuropathol. 2000 Mar-Apr;19(2):85-93.

PMID:
10749289

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