Recent advances in the understanding of syndromic forms of hearing loss.

作者信息

Friedman Thomas B, Schultz Julie M, Ben-Yosef Tamar, Pryor Shannon P, Lagziel Ayala, Fisher Rachel A, Wilcox Edward R, Riazuddin Saima, Ahmed Zubair M, Belyantseva Inna A, Griffith Andrew J

机构信息

Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, NIH, Rockville, MD, USA.

出版信息

Ear Hear. 2003 Aug;24(4):289-302. doi: 10.1097/01.AUD.0000079804.00047.CE.

DOI:10.1097/01.AUD.0000079804.00047.CE

PMID:12923420

Abstract

摘要

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Recent advances in the understanding of syndromic forms of hearing loss.

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Case Report: Novel Compound Heterozygous Variants in Associated With Congenital Deafness in a Chinese Family.

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Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.

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相似文献

Recent advances in the understanding of syndromic forms of hearing loss.

Ear Hear. 2003 Aug;24(4):289-302. doi: 10.1097/01.AUD.0000079804.00047.CE.

Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3).

Am J Med Genet. 1989 Aug;33(4):505-7. doi: 10.1002/ajmg.1320330419.

Piebaldism, an autosomal dominant trait distinct from Waardenburg syndrome.

Am J Med Genet. 1990 Dec;37(4):600-2. doi: 10.1002/ajmg.1320370435.

[Waardenburg's syndrome].

C R Seances Soc Biol Fil. 1996;190(5-6):577-80.

Waardenburg's syndrome.

Indian J Ophthalmol. 1980 Apr;28(1):37-8.

[Waardenburg's syndrome].

An Otorrinolaringol Ibero Am. 1994;21(4):425-32.

Child neurology: a patient with dissimilar eye color and deafness.

Neurology. 2010 Feb 23;74(8):e25-6. doi: 10.1212/WNL.0b013e3181d0cc5f.

[Waardenburg's syndrome (type II) in 2 children, without parental involvement: genetic counseling].

J Genet Hum. 1981 Sep;29(3):273-84.

[Prenatal causes of sensorineural hearing loss in children (author's transl)].

Laryngol Rhinol Otol (Stuttg). 1979 Nov;58(11):811-6.

Animal models of pigment and hearing abnormalities in man.

Birth Defects Orig Artic Ser. 1971 Mar;07(4):102-9.

引用本文的文献

Case Report: Novel Compound Heterozygous Variants in Associated With Congenital Deafness in a Chinese Family.

Front Genet. 2021 Nov 17;12:766973. doi: 10.3389/fgene.2021.766973. eCollection 2021.

Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss.

PLoS One. 2018 Jan 2;13(1):e0188578. doi: 10.1371/journal.pone.0188578. eCollection 2018.

Mouse cochleostomy: a minimally invasive dorsal approach for modeling cochlear implantation.

Laryngoscope. 2013 Dec;123(12):E109-15. doi: 10.1002/lary.24174. Epub 2013 May 14.

Molecular mechanisms of inner ear development.

Cold Spring Harb Perspect Biol. 2012 Aug 1;4(8):a008409. doi: 10.1101/cshperspect.a008409.

Cell type-specific transcriptome analysis reveals a major role for Zeb1 and miR-200b in mouse inner ear morphogenesis.

PLoS Genet. 2011 Sep;7(9):e1002309. doi: 10.1371/journal.pgen.1002309. Epub 2011 Sep 29.

Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.

Am J Hum Genet. 2009 Jul;85(1):25-39. doi: 10.1016/j.ajhg.2009.06.003. Epub 2009 Jul 2.

Diagnosis routine and approach in genetic sensorineural hearing loss.

Braz J Otorhinolaryngol. 2007 May-Jun;73(3):412-7. doi: 10.1016/s1808-8694(15)30087-2.