Literature DB >> 25217188

[Hereditary hearing loss: Part 2: Syndromic forms of hearing loss].

W F Burke1, T Lenarz, H Maier.   

Abstract

Syndromic hearing loss is responsible for approximately 30% of cases of inherited hearing loss. The syndromic form can be differentiated from nonsyndromic hearing loss by the presence of associated symptoms in other organ systems. While for many forms of syndromic hearing loss the individual genes responsible have been identified, the etiology of other associated symptoms remains unclear. The role of the ENT physician is to select appropriate clinical and genetic diagnostic tools based on the presentation of the patient and to subsequently initiate and perform the required hearing loss therapy.

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Year:  2014        PMID: 25217188     DOI: 10.1007/s00106-014-2901-x

Source DB:  PubMed          Journal:  HNO        ISSN: 0017-6192            Impact factor:   1.284


  22 in total

1.  Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden.

Authors:  Annika Winbo; Eva-Lena Stattin; Ulla-Britt Diamant; Johan Persson; Steen M Jensen; Annika Rydberg
Journal:  Europace       Date:  2012-04-26       Impact factor: 5.214

Review 2.  SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct.

Authors:  Taku Ito; Byung Yoon Choi; Kelly A King; Christopher K Zalewski; Julie Muskett; Parna Chattaraj; Thomas Shawker; James C Reynolds; John A Butman; Carmen C Brewer; Philine Wangemann; Seth L Alper; Andrew J Griffith
Journal:  Cell Physiol Biochem       Date:  2011-11-18

Review 3.  Neurofibromatosis type 2.

Authors:  Gareth R Evans; Simon K W Lloyd; Richard T Ramsden
Journal:  Adv Otorhinolaryngol       Date:  2011-02-24

4.  The large vestibular aqueduct syndrome.

Authors:  R K Jackler; A De La Cruz
Journal:  Laryngoscope       Date:  1989-12       Impact factor: 3.325

Review 5.  Branchio-oto-renal syndrome.

Authors:  Amit Kochhar; Stephanie M Fischer; William J Kimberling; Richard J H Smith
Journal:  Am J Med Genet A       Date:  2007-07-15       Impact factor: 2.802

6.  Long-term follow-up of hearing loss in children and young adults with enlarged vestibular aqueducts: relationship to radiologic findings and Pendred syndrome diagnosis.

Authors:  Ian B Colvin; Timothy Beale; Katherine Harrop-Griffiths
Journal:  Laryngoscope       Date:  2006-11       Impact factor: 3.325

7.  [Hereditary hearing loss: Part 1: diagnostic overview and practical advice].

Authors:  W F Burke; T Lenarz; H Maier
Journal:  HNO       Date:  2013-04       Impact factor: 1.284

8.  Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).

Authors:  Montserrat Rodríguez-Ballesteros; Francisco J del Castillo; Yolanda Martín; Miguel A Moreno-Pelayo; Constantino Morera; Félix Prieto; Jaime Marco; Antonio Morant; Jaime Gallo-Terán; Carmelo Morales-Angulo; Cristina Navas; Germán Trinidad; M Cruz Tapia; Felipe Moreno; Ignacio del Castillo
Journal:  Hum Mutat       Date:  2003-12       Impact factor: 4.878

9.  Correlation analysis of genotypes, auditory function, and vestibular size in Chinese children with enlarged vestibular aqueduct syndrome.

Authors:  Fei-Fan Zhao; Lan Lan; Da-Yong Wang; Bing Han; Yue Qi; Yali Zhao; Liang Zong; Qian Li; Qiu-Ju Wang
Journal:  Acta Otolaryngol       Date:  2013-12       Impact factor: 1.494

Review 10.  Value of genetic testing in the otological approach for sensorineural hearing loss.

Authors:  Tatsuo Matsunaga
Journal:  Keio J Med       Date:  2009-12
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  1 in total

Review 1.  Cochlear implant - state of the art.

Authors:  Thomas Lenarz
Journal:  GMS Curr Top Otorhinolaryngol Head Neck Surg       Date:  2018-02-19
  1 in total

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