Literature DB >> 25200653

Waardenburg syndrome: more common than you think!

A Zaman1, R Capper, W Baddoo.   

Abstract

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Year:  2015        PMID： 25200653     DOI： 10.1111/coa.12312

Source DB:  PubMed          Journal:  Clin Otolaryngol        ISSN： 1749-4478            Impact factor:   2.597


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  11 in total

1.  The Spatiotemporal Pattern and Intensity of p53 Activation Dictates Phenotypic Diversity in p53-Driven Developmental Syndromes.

Authors:  Margot E Bowen; Jacob McClendon; Hannah K Long; Aryo Sorayya; Jeanine L Van Nostrand; Joanna Wysocka; Laura D Attardi
Journal:  Dev Cell       Date:  2019-06-06       Impact factor: 12.270

2.  Shah-Waardenburg syndrome: a case highlighting the importance of a holistic approach to assessing a child.

Authors:  Amogh Patil; Lanka Prathyusha; Muganagowda Patil
Journal:  BMJ Case Rep       Date:  2017-12-22

Review 3.  Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.

Authors:  John D Gettelfinger; John P Dahl
Journal:  J Pediatr Genet       Date:  2018-01-04

4.  A Novel Pathogenic Variant in the MITF Gene Segregating with a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred.

Authors:  Nazanin Jalilian; Mohammad A Tabatabaiefar; Tayyeb Bahrami; Golaleh Karbasi; Mohammad H Bahramian; Abdolrahman Salimpoor; Mohammad R Noori-Daloii
Journal:  Mol Syndromol       Date:  2017-05-30

5.  Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next-generation sequencing.

Authors:  Mahzad Nasirshalal; Mohammad Panahi; Nahid Javanshir; Hamzeh Salmani
Journal:  J Clin Lab Anal       Date:  2021-05-04       Impact factor: 2.352

6.  A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4.

Authors:  Xiong Wang; Yaowu Zhu; Na Shen; Jing Peng; Chunyu Wang; Haiyi Liu; Yanjun Lu
Journal:  Sci Rep       Date:  2017-01-27       Impact factor: 4.379

Review 7.  Genetics of pediatric hearing loss: A functional perspective.

Authors:  Harmon Khela; Margaret A Kenna
Journal:  Laryngoscope Investig Otolaryngol       Date:  2020-05-02

8.  New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.

Authors:  Wu Li; Lingyun Mei; Hongsheng Chen; Xinzhang Cai; Yalan Liu; Meichao Men; Xue Zhong Liu; Denise Yan; Jie Ling; Yong Feng
Journal:  Neural Plast       Date:  2019-02-27       Impact factor: 3.599

9.  Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome.

Authors:  Yongbo Yu; Wei Liu; Min Chen; Yang Yang; Yeran Yang; Enyu Hong; Jie Lu; Jun Zheng; Xin Ni; Yongli Guo; Jie Zhang
Journal:  Mol Genet Genomic Med       Date:  2020-03-13       Impact factor: 2.183

10.  Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.

Authors:  Li Wang; Litao Qin; Tao Li; Hongjian Liu; Lingcao Ma; Wan Li; Dong Wu; Hongdan Wang; Qiannan Guo; Liangjie Guo; Shixiu Liao
Journal:  Mol Med Rep       Date:  2017-10-25       Impact factor: 2.952
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