Deafness [NEW TOPIC PAGE]

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Last Posted: Jul 26, 2018

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• A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations.
  Han Mingyu et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Dec 19(12) 1309-1316
• The first successful application of preimplantation genetic diagnosis for hearing loss in Iran.
  Karimi Yazdi Alireza et al. Cellular and molecular biology (Noisy-le-Grand, France) 2018 Jun 64(9) 1718
• Genetic counseling in an indigenous Filipino community with a high prevalence of A2ML1-related otitis media.
  la Paz Eva Maria Cutiongco-de et al. Journal of community genetics 2018 Jun
• [Application of next generation sequencing in congenital sensorineural deafness].
  Xu B et al. Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery 2018 Jun 32(11) 811-815
• Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children.
  Boudewyns An et al. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2018 Jul 39(6) 732-738
• Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity.
  Al-Hassnan Zuhair N et al. Heart rhythm 2017 Aug 14(8) 1191-1199
• A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort.
  Downie Lilian et al. BMJ paediatrics open 2017 1(1) e000119
• Large scale newborn deafness genetic screening of 142,417 neonates in Wuhan, China.
  Hao Zongjie et al. PloS one 2018 13(4) e0195740
• Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.
  Mittal Rahul et al. Gene 2018 Mar 647297-305
• Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss.
  Umrigar Ayesha et al. SAGE open medical case reports 2017 52050313X17745904

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