Literature DB >> 30449927

Waardenburg syndrome type 2.

Subhash Chandra Shaw1, Shekhar Neema2, Amit Devgan3, Rakesh Maggon4.   

Abstract

Entities:  

Keywords:  Auditory-pigmentary disorder; Dystopia canthorum; Sensorineural hearing loss; Waardenburg syndrome

Year:  2017        PMID： 30449927      PMCID： PMC6224656          DOI： 10.1016/j.mjafi.2017.05.009

Source DB:  PubMed          Journal:  Med J Armed Forces India        ISSN： 0377-1237


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  8 in total

1.  A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness.

Authors:  P J WAARDENBURG
Journal:  Am J Hum Genet       Date:  1951-09       Impact factor: 11.025

Review 2.  Hearing loss in Waardenburg syndrome: a systematic review.

Authors:  J Song; Y Feng; F R Acke; P Coucke; K Vleminckx; I J Dhooge
Journal:  Clin Genet       Date:  2015-07-17       Impact factor: 4.438

3.  Pigmentary disorders in association with congenital deafness.

Authors:  W B Reed; V M Stone; E Boder; L Ziprkowski
Journal:  Arch Dermatol       Date:  1967-02

Review 4.  Waardenburg syndrome type II: phenotypic findings and diagnostic criteria.

Authors:  X Z Liu; V E Newton; A P Read
Journal:  Am J Med Genet       Date:  1995-01-02

5.  Waardenburg syndrome: iris and choroidal hypopigmentation: findings on anterior and posterior segment imaging.

Authors:  Carol L Shields; Stephanie J Nickerson; Saad Al-Dahmash; Jerry A Shields
Journal:  JAMA Ophthalmol       Date:  2013-09       Impact factor: 7.389

6.  Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium.

Authors:  L A Farrer; K M Grundfast; J Amos; K S Arnos; J H Asher; P Beighton; S R Diehl; J Fex; C Foy; T B Friedman
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

7.  Clinical and genetic investigation of families with type II Waardenburg syndrome.

Authors:  Yong Chen; Fuwei Yang; Hexin Zheng; Jianda Zhou; Ganghua Zhu; Peng Hu; Weijing Wu
Journal:  Mol Med Rep       Date:  2016-01-13       Impact factor: 2.952

8.  The Hearing Outcomes of Cochlear Implantation in Waardenburg Syndrome.

Authors:  Hajime Koyama; Akinori Kashio; Aki Sakata; Katsuhiro Tsutsumiuchi; Yu Matsumoto; Shotaro Karino; Akinobu Kakigi; Shinichi Iwasaki; Tatsuya Yamasoba
Journal:  Biomed Res Int       Date:  2016-06-08       Impact factor: 3.411
  8 in total
  2 in total

1.  MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome.

Authors:  Rong Yu; Lv Liu; Ya-Li Li; Liang-Liang Fan
Journal:  Biomed Res Int       Date:  2021-01-11       Impact factor: 3.411

2.  Waardenburg syndrome type II in a Chinese pedigree caused by frameshift mutation in the SOX10 gene.

Authors:  Li Li; Jing Ma; Xiao-Li He; Yuan-Tao Zhou; Yu Zhang; Quan-Dong Chen; Lin Zhang; Biao Ruan; Tie-Song Zhang
Journal:  Biosci Rep       Date:  2021-06-25       Impact factor: 3.840
  2 in total

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