Literature DB >> 24689698

Comprehensive genetic testing can save lives in hereditary hearing loss.

D Tekin1, E Tutar, H Ozturkmen Akay, S Blanton, J Foster, M Tekin.   

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Year:  2014        PMID： 24689698      PMCID： PMC5483945          DOI： 10.1111/cge.12376

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  4 in total

1.  Calculation of QTc duration and variability in the presence of sinus arrhythmia.

Authors:  A B Martin; J C Perry; J L Robinson; W Zareba; A J Moss; A Garson
Journal:  Am J Cardiol       Date:  1995-05-01       Impact factor: 2.778

2.  Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Authors:  I Splawski; J Shen; K W Timothy; M H Lehmann; S Priori; J L Robinson; A J Moss; P J Schwartz; J A Towbin; G M Vincent; M T Keating
Journal:  Circulation       Date:  2000-09-05       Impact factor: 29.690

Review 3.  QTc: how long is too long?

Authors:  J N Johnson; M J Ackerman
Journal:  Br J Sports Med       Date:  2009-09       Impact factor: 13.800

4.  Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.

Authors:  Oscar Diaz-Horta; Duygu Duman; Joseph Foster; Aslı Sırmacı; Michael Gonzalez; Nejat Mahdieh; Nikou Fotouhi; Mortaza Bonyadi; Filiz Başak Cengiz; Ibis Menendez; Rick H Ulloa; Yvonne J K Edwards; Stephan Züchner; Susan Blanton; Mustafa Tekin
Journal:  PLoS One       Date:  2012-11-30       Impact factor: 3.240
  4 in total
  4 in total

Review 1.  Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care.

Authors:  A Eliot Shearer; Richard J H Smith
Journal:  Otolaryngol Head Neck Surg       Date:  2015-06-17       Impact factor: 3.497

2.  "Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".

Authors:  Fahrettin Uysal; Burcu Turkgenc; Guven Toksoy; Ozlem M Bostan; Elif Evke; Oya Uyguner; Cengiz Yakicier; Hulya Kayserili; Ergun Cil; Sehime G Temel
Journal:  BMC Med Genet       Date:  2017-10-16       Impact factor: 2.103

3.  Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss.

Authors:  G Bademci; F B Cengiz; J Foster Ii; D Duman; L Sennaroglu; O Diaz-Horta; T Atik; T Kirazli; L Olgun; H Alper; I Menendez; I Loclar; G Sennaroglu; S Tokgoz-Yilmaz; S Guo; Y Olgun; N Mahdieh; M Bonyadi; N Bozan; A Ayral; F Ozkinay; M Yildirim-Baylan; S H Blanton; M Tekin
Journal:  Sci Rep       Date:  2016-08-26       Impact factor: 4.379

4.  Severe to profound deafness may be associated with MYH9-related disease: report of 4 patients.

Authors:  P Canzi; A Pecci; M Manfrin; E Rebecchi; C Zaninetti; V Bozzi; M Benazzo
Journal:  Acta Otorhinolaryngol Ital       Date:  2016-10       Impact factor: 2.124
  4 in total

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