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Items: 1 to 20 of 101

1.

Hereditary Hearing Loss and Deafness Overview.

Shearer AE, Hildebrand MS, Smith RJH.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
1999 Feb 14 [updated 2017 Jul 27].

2.

OTOF-Related Deafness.

Shearer AE, Smith RJH.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2008 Feb 29 [updated 2015 Jul 30].

3.

Genetics and molecular biology of deafness. Update.

Grundfast KM, Siparsky N, Chuong D.

Otolaryngol Clin North Am. 2000 Dec;33(6):1367-94. Review. Erratum in: Otolaryngol Clin North Am 2001 Jun;34(3):vii-viii.

PMID:
11449793
4.

Hereditary deafness and phenotyping in humans.

Bitner-Glindzicz M.

Br Med Bull. 2002;63:73-94. Review.

PMID:
12324385
5.
6.

[Investigation of clinical features and detection of 79 known deafness genes in a large Chinese family with dominant non-syndromic hearing loss].

Lin X, Chen D, Wu H, Yang T, Zhang D, Chai Y.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2014 Aug;49(8):654-8. Chinese.

PMID:
25351123
7.

Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.

Xia W, Liu F, Ma D.

Front Med. 2016 Jun;10(2):137-42. doi: 10.1007/s11684-016-0449-8. Epub 2016 May 3. Review.

PMID:
27142990
8.

Vestibular system in infants with hereditary nonsyndromic deafness.

Zagólski O.

Otol Neurotol. 2007 Dec;28(8):1053-5.

PMID:
17898670
9.

Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.

Mutai H, Suzuki N, Shimizu A, Torii C, Namba K, Morimoto N, Kudoh J, Kaga K, Kosaki K, Matsunaga T.

Orphanet J Rare Dis. 2013 Oct 28;8:172. doi: 10.1186/1750-1172-8-172.

10.

Nonsyndromic Retinitis Pigmentosa Overview.

Fahim AT, Daiger SP, Weleber RG.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2000 Aug 4 [updated 2017 Jan 19].

11.

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

Burke WF, Lenarz T, Maier H.

HNO. 2014 Oct;62(10):759-69; quiz 770. doi: 10.1007/s00106-014-2901-x. Review. German.

PMID:
25217188
12.

Molecular genetics of non-syndromic deafness.

Piatto VB, Nascimento EC, Alexandrino F, Oliveira CA, Lopes AC, Sartorato EL, Maniglia JV.

Braz J Otorhinolaryngol. 2005 Mar-Apr;71(2):216-23. Epub 2005 Aug 2. Review.

13.

DFNA2 Nonsyndromic Hearing Loss.

Smith RJH, Hildebrand M.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2008 Apr 4 [updated 2015 Aug 20].

14.

Cellular and Deafness Mechanisms Underlying Connexin Mutation-Induced Hearing Loss - A Common Hereditary Deafness.

Wingard JC, Zhao HB.

Front Cell Neurosci. 2015 May 29;9:202. doi: 10.3389/fncel.2015.00202. eCollection 2015. Review.

15.

The genetics of deafness.

Nance WE.

Ment Retard Dev Disabil Res Rev. 2003;9(2):109-19. Review.

PMID:
12784229
16.

Etiological diagnosis of bilateral, sensorineural hearing impairment in a pediatric Greek population.

Riga M, Psarommatis I, Lyra Ch, Douniadakis D, Tsakanikos M, Neou P, Apostolopoulos N.

Int J Pediatr Otorhinolaryngol. 2005 Apr;69(4):449-55. Epub 2005 Jan 4.

PMID:
15763280
17.

Genetic counseling for the deaf.

Arnos KS, Israel J, Devlin L, Wilson MP.

Otolaryngol Clin North Am. 1992 Oct;25(5):953-71.

PMID:
1408198
18.

Molecular and hereditary mechanisms of sensorineural hearing loss with focus on selected endocrinopathies.

Masindova I, Varga L, Stanik J, Valentinova L, Profant M, Klimes I, Gasperikova D.

Endocr Regul. 2012 Jul;46(3):167-86. Review.

PMID:
22808909
19.

Linkage and association studies in a Malaysian family with autosomal recessive non-syndromic hearing loss.

Farah WI, Aminuddin BS, Ruszymah BH.

Malays J Pathol. 2006 Jun;28(1):23-33.

20.

[Common deafness gene mutations of non-syndromic hearing loss in Liaoning].

Tian Y, Wang Z, Yang N, Hui L, Jiang X.

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2014 Aug;28(16):1244-7. Chinese.

PMID:
25464568

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