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Items: 1 to 20 of 114

1.

Gene symbol: ROBO3. Disease: Gaze Palsy, horizontal, with progressive scoliosis.

Abu-Amero K.

Hum Genet. 2008 Jun;123(5):540. No abstract available.

PMID:
20960611
2.

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
3.

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
4.

Mutation in ROBO3 gene recently demonstrated in patients with horizontal gaze palsy with progressive scoliosis.

MacDonald J.

AJNR Am J Neuroradiol. 2007 Feb;28(2):198. No abstract available.

5.

Mutation in ROBO3 gene recently documented in patients with horizontal gaze palsy with progressive scoliosis.

MacDonald JT.

J Child Neurol. 2006 Jun;21(6):545. No abstract available.

PMID:
16948950
6.

Horizontal gaze palsy and progressive scoliosis due to a deleterious mutation in ROBO3.

Abu-Amero KK, Kapoor S, Hellani A, Monga S, Bosley TM.

Ophthalmic Genet. 2011 Nov;32(4):231-6. doi: 10.3109/13816810.2011.580445. Epub 2011 May 19.

PMID:
21592015
7.

Ipsilateral stroke in a patient with horizontal gaze palsy with progressive scoliosis and a subcortical infarct.

Ng AS, Sitoh YY, Zhao Y, Teng EW, Tan EK, Tan LC.

Stroke. 2011 Jan;42(1):e1-3. doi: 10.1161/STROKEAHA.110.591271. Epub 2010 Nov 18.

8.

Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients.

Volk AE, Carter O, Fricke J, Herkenrath P, Poggenborg J, Borck G, Demant AW, Ivo R, Eysel P, Kubisch C, Neugebauer A.

Mol Vis. 2011;17:1978-86. Epub 2011 Jul 20.

9.

Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3.

Chan WM, Traboulsi EI, Arthur B, Friedman N, Andrews C, Engle EC.

J Med Genet. 2006 Mar;43(3):e11.

10.

Patients with horizontal gaze palsy and progressive scoliosis due to ROBO3 E319K mutation have both uncrossed and crossed central nervous system pathways and perform normally on neuropsychological testing.

Amoiridis G, Tzagournissakis M, Christodoulou P, Karampekios S, Latsoudis H, Panou T, Simos P, Plaitakis A.

J Neurol Neurosurg Psychiatry. 2006 Sep;77(9):1047-53. Epub 2006 Jun 13.

11.

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.

Ophthalmic Genet. 2011 Nov;32(4):212-6. doi: 10.3109/13816810.2011.574186. Epub 2011 Apr 21.

PMID:
21510772
12.

Five new consanguineous families with horizontal gaze palsy and progressive scoliosis and novel ROBO3 mutations.

Abu-Amero KK, al Dhalaan H, al Zayed Z, Hellani A, Bosley TM.

J Neurol Sci. 2009 Jan 15;276(1-2):22-6. doi: 10.1016/j.jns.2008.08.026. Epub 2008 Oct 1.

PMID:
18829051
13.

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

Khan AO, Oystreck DT, Al-Tassan N, Al-Sharif L, Bosley TM.

Ophthalmology. 2008 Dec;115(12):2262-5. doi: 10.1016/j.ophtha.2008.08.010.

PMID:
19041479
14.

Unidirectional startle responses and disrupted left-right co-ordination of motor behaviors in robo3 mutant zebrafish.

Burgess HA, Johnson SL, Granato M.

Genes Brain Behav. 2009 Jul;8(5):500-11. doi: 10.1111/j.1601-183X.2009.00499.x. Epub 2009 May 20.

15.

Two siblings with familial idiopathic scoliosis with conjugate gaze palsy.

Incecik F, Elkay M, Hergüner MO, Yerdelen D, Ozcan K, Atlunbasak S.

J Child Neurol. 2005 Jan;20(1):81-3.

PMID:
15791929
16.

Mutations in ROBO3 cause HGPPS.

Butcher J.

Lancet Neurol. 2004 Jun;3(6):328. No abstract available.

PMID:
15176408
17.

Juvenile progressive scoliosis and congenital horizontal gaze palsy.

Thomsen M, Steffen H, Sabo D, Niethard FU.

J Pediatr Orthop B. 1996 Summer;5(3):185-9. Review.

PMID:
8866284
18.

Ipsilateral hemiparesis caused by putaminal hemorrhage in a patient with horizontal gaze palsy with progressive scoliosis: a case report.

Yamada S, Okita Y, Shofuda T, Yoshioka E, Nonaka M, Mori K, Nakajima S, Kanemura Y.

BMC Neurol. 2015 Mar 10;15:25. doi: 10.1186/s12883-015-0286-4.

19.

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.

20.

Horizontal Gaze Palsy With Progressive Scoliosis and Severe Keratoconus With a Compound Heterozygous Mutation in ROBO3.

Pina S, Pedrosa C, Feijóo B, Machado S, Prieto I, Costa C, Santos MJ.

J Pediatr Ophthalmol Strabismus. 2014 May 28;51 Online:e29-32. doi: 10.3928/01913913-20140521-01.

PMID:
26465116
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