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Quoted phrase not found in phrase index: "Human HOXA1 syndromes"
Page 1
Gene methylation in gastric cancer.
Qu Y, Dang S, Hou P. Qu Y, et al. Clin Chim Acta. 2013 Sep 23;424:53-65. doi: 10.1016/j.cca.2013.05.002. Epub 2013 May 10. Clin Chim Acta. 2013. PMID: 23669186 Free article. Review.
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. Abu-Amero KK, et al. Can J Neurol Sci. 2014 Jul;41(4):448-51. doi: 10.1017/s0317167100018473. Can J Neurol Sci. 2014. PMID: 24878468
OBJECTIVE: Homozygous homeobox A1 (HOXA1) mutations cause a spectrum of abnormalities in humans including bilateral profound deafness. This study evaluates the possible role of HOXA1 mutations in familial, non-syndromic sensorineural deafness. ...
OBJECTIVE: Homozygous homeobox A1 (HOXA1) mutations cause a spectrum of abnormalities in humans including bilateral profound d …
CircWHSC1 serves as an oncogene to promote hepatocellular carcinoma progression.
Lyu P, Zhai Z, Hao Z, Zhang H, He J. Lyu P, et al. Eur J Clin Invest. 2021 Jun;51(6):e13487. doi: 10.1111/eci.13487. Epub 2021 Apr 27. Eur J Clin Invest. 2021. PMID: 33410156
BACKGROUND: Circular RNAs (circRNAs) function as vital regulators in multifarious cancers, including hepatocellular carcinoma (HCC). However, the roles of circRNA Wolf-Hirschhorn syndrome candidate gene-1 (circWHSC1) in HCC are barely known. METHODS: Quantitative real-time …
BACKGROUND: Circular RNAs (circRNAs) function as vital regulators in multifarious cancers, including hepatocellular carcinoma (HCC). However …
HOXA1 mutations are not a common cause of Mobius syndrome.
Rankin JK, Andrews C, Chan WM, Engle EC. Rankin JK, et al. J AAPOS. 2010 Feb;14(1):78-80. doi: 10.1016/j.jaapos.2009.11.007. J AAPOS. 2010. PMID: 20227628 Free PMC article.
The HOXA1-related syndromes result from autosomal-recessive truncating mutations in the homeobox transcription factor, HOXA1. ...We asked, given the phenotypic overlap between these syndromes and the variable expressivity of both disorders, whether ind …
The HOXA1-related syndromes result from autosomal-recessive truncating mutations in the homeobox transcription factor, HOXA …
Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.
MacKinnon S, Oystreck DT, Andrews C, Chan WM, Hunter DG, Engle EC. MacKinnon S, et al. Ophthalmology. 2014 Jul;121(7):1461-8. doi: 10.1016/j.ophtha.2014.01.006. Epub 2014 Mar 6. Ophthalmology. 2014. PMID: 24612975 Free PMC article.
DESIGN: Prospective, observational study. PARTICIPANTS: Attendees of 3 consecutive Moebius syndrome conferences held in the United States, with a prior diagnosis of Moebius syndrome, were invited to participate. METHODS: Participants underwent standardized ophthalmo …
DESIGN: Prospective, observational study. PARTICIPANTS: Attendees of 3 consecutive Moebius syndrome conferences held in the United St …
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. Bosley TM, et al. Neurology. 2007 Sep 18;69(12):1245-53. doi: 10.1212/01.wnl.0000276947.59704.cf. Neurology. 2007. PMID: 17875913 Free PMC article.
BACKGROUND: The Bosley-Salih-Alorainy syndrome (BSAS) variant of the congenital human HOXA1 syndrome results from autosomal recessive truncating HOXA1 mutations. ...Similarities between this syndrome and thalidomide embryopathy suggest th …
BACKGROUND: The Bosley-Salih-Alorainy syndrome (BSAS) variant of the congenital human HOXA1 syndrome results fro …
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. Ingram JL, et al. Teratology. 2000 Dec;62(6):393-405. doi: 10.1002/1096-9926(200012)62:6<393::AID-TERA6>3.0.CO;2-V. Teratology. 2000. PMID: 11091361
In the ASD families, there was a significant deviation from the HOXA1 genotype ratios expected from Hardy-Weinberg proportions (P = 0.005). ...No statistically significant effects were detected when the same analyses were applied to the HOXB1 locus, but there was evidence …
In the ASD families, there was a significant deviation from the HOXA1 genotype ratios expected from Hardy-Weinberg proportions (P = 0 …
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. 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
PURPOSE: To evaluate possible monogenic and chromosomal anomalies in a patient with bilateral Duane retraction syndrome and hearing impairment resulting in a phenotype resembling the HOXA1 spectrum disorder. ...CONCLUSIONS: PTPRN2 is not yet linked to a genetic s …
PURPOSE: To evaluate possible monogenic and chromosomal anomalies in a patient with bilateral Duane retraction syndrome and hearing i …
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. Ophthalmic Genet. 2011 Nov;32(4):212-6. doi: 10.3109/13816810.2011.574186. Epub 2011 Apr 21. Ophthalmic Genet. 2011. PMID: 21510772
A clinical misdiagnosis is unlikely in the absence of facial weakness (typical of Moebius syndrome), deafness (typical of the HOXA1 spectrum), or mental retardation (typical of other central decussation abnormalities). ...
A clinical misdiagnosis is unlikely in the absence of facial weakness (typical of Moebius syndrome), deafness (typical of the HOXA …
15 results