Literature DB >> 22348569

A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy.

Emily Avitan-Hersh1, Margarita Indelman, Ziyad Khamaysi, Rina Leibu, Reuven Bergman.   

Abstract

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Year:  2012        PMID： 22348569     DOI： 10.1111/j.1365-4632.2011.04973.x

Source DB:  PubMed          Journal:  Int J Dermatol        ISSN： 0011-9059            Impact factor:   2.736


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  5 in total

Review 1.  P-cadherin and the journey to cancer metastasis.

Authors:  André Filipe Vieira; Joana Paredes
Journal:  Mol Cancer       Date:  2015-10-06       Impact factor: 27.401

2.  CDH3 gene related hypotrichosis and juvenile macular dystrophy - A case with a novel mutation.

Authors:  Omer Karti; Saygin Abali; Ziya Ayhan; Eylem Gokmeydan; Serhad Nalcaci; Aylin Yaman; Ali Osman Saatci
Journal:  Am J Ophthalmol Case Rep       Date:  2017-06-26

3.  New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.

Authors:  Fiona Blanco-Kelly; Luciana Rodrigues-Jacy da Silva; Iker Sanchez-Navarro; Rosa Riveiro-Alvarez; Miguel Angel Lopez-Martinez; Marta Corton; Carmen Ayuso
Journal:  BMC Med Genet       Date:  2017-01-07       Impact factor: 2.103

4.  Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing.

Authors:  Amir Hossein Saeidian; Hassan Vahidnezhad; Leila Youssefian; Soheila Sotudeh; Meisam Sargazi; Sirous Zeinali; Jouni Uitto
Journal:  Mol Genet Genomic Med       Date:  2019-09-27       Impact factor: 2.183

5.  Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.

Authors:  Avigail Beryozkin; Elia Shevah; Adva Kimchi; Liliana Mizrahi-Meissonnier; Samer Khateb; Rinki Ratnapriya; Csilla H Lazar; Anat Blumenfeld; Tamar Ben-Yosef; Yitzhak Hemo; Jacob Pe'er; Eduard Averbuch; Michal Sagi; Alexis Boleda; Linn Gieser; Abraham Zlotogorski; Tzipora Falik-Zaccai; Ola Alimi-Kasem; Samuel G Jacobson; Itay Chowers; Anand Swaroop; Eyal Banin; Dror Sharon
Journal:  Sci Rep       Date:  2015-08-26       Impact factor: 4.379
  5 in total

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