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Items: 1 to 20 of 86

1.

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
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.

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.

4.

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.

5.

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
6.

HOXA1 mutations are not a common cause of Möbius syndrome.

Rankin JK, Andrews C, Chan WM, Engle EC.

J AAPOS. 2010 Feb;14(1):78-80. doi: 10.1016/j.jaapos.2009.11.007.

7.

Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders.

Ingram JL, Stodgell CJ, Hyman SL, Figlewicz DA, Weitkamp LR, Rodier PM.

Teratology. 2000 Dec;62(6):393-405.

PMID:
11091361
8.

HOXA1 Mutations are Not Commonly Associated with Non-Syndromic Deafness.

Abu-Amero KK, Hagr Aa, Almomani MO, Azad TA, Alorainy IA, Oystreck DT, Bosley TM.

Can J Neurol Sci. 2014 Jul;41(4):448-51.

PMID:
24878468
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.
11.

Identification of novel Hoxa1 downstream targets regulating hindbrain, neural crest and inner ear development.

Makki N, Capecchi MR.

Dev Biol. 2011 Sep 15;357(2):295-304. doi: 10.1016/j.ydbio.2011.06.042. Epub 2011 Jul 18.

12.

Cardiovascular defects in a mouse model of HOXA1 syndrome.

Makki N, Capecchi MR.

Hum Mol Genet. 2012 Jan 1;21(1):26-31. doi: 10.1093/hmg/ddr434. Epub 2011 Sep 22.

13.

Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.

Pescosolido MF, Stein DM, Schmidt M, El Achkar CM, Sabbagh M, Rogg JM, Tantravahi U, McLean RL, Liu JS, Poduri A, Morrow EM.

Ann Neurol. 2014 Oct;76(4):581-93. doi: 10.1002/ana.24225. Epub 2014 Sep 19.

14.

Hoxa1 lineage tracing indicates a direct role for Hoxa1 in the development of the inner ear, the heart, and the third rhombomere.

Makki N, Capecchi MR.

Dev Biol. 2010 May 15;341(2):499-509. doi: 10.1016/j.ydbio.2010.02.014. Epub 2010 Feb 18.

15.

Lack of association of HOXA1 and HOXB1 mutations and autism in Sicilian (Italian) patients.

Romano V, Calì F, Mirisola M, Gambino G, D' Anna R, Di Rosa P, Seidita G, Chiavetta V, Aiello F, Canziani F, De Leo G, Ayala GF, Elia M.

Mol Psychiatry. 2003 Aug;8(8):716-7. No abstract available.

PMID:
12888798
16.

Mutation screening of the ARX gene in patients with autism.

Chaste P, Nygren G, Anckarsäter H, Råstam M, Coleman M, Leboyer M, Gillberg C, Betancur C.

Am J Med Genet B Neuropsychiatr Genet. 2007 Mar 5;144B(2):228-30.

17.

DYRK1A mutations in two unrelated patients.

Ruaud L, Mignot C, Guët A, Ohl C, Nava C, Héron D, Keren B, Depienne C, Benoit V, Maystadt I, Lederer D, Amsallem D, Piard J.

Eur J Med Genet. 2015 Mar;58(3):168-74. doi: 10.1016/j.ejmg.2014.12.014. Epub 2015 Jan 30.

PMID:
25641759
18.

No association between HOXA1 and HOXB1 genes and autism spectrum disorders (ASD).

Talebizadeh Z, Bittel DC, Miles JH, Takahashi N, Wang CH, Kibiryeva N, Butler MG.

J Med Genet. 2002 Nov;39(11):e70. No abstract available.

19.
20.

Lack of association of HOXA1 and HOXB1 variants with autism in the Indian population.

Sen B, Sinha S, Ahmed S, Ghosh S, Gangopadhyay PK, Usha R.

Psychiatr Genet. 2007 Feb;17(1):1. No abstract available.

PMID:
17167333

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