Literature DB >> 23143461

Homozygous deletion in CDH3 and hypotrichosis with juvenile macular dystrophy.

Stephanie Halford, Richard Holt, Andrea H Németh, Susan M Downes.   

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Year:  2012        PMID： 23143461     DOI： 10.1001/archophthalmol.2012.708

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN： 0003-9950


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  7 in total

Review 1.  An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story.

Authors:  Saoud Al-Khuzaei; Suzanne Broadgate; Charlotte R Foster; Mital Shah; Jing Yu; Susan M Downes; Stephanie Halford
Journal:  Genes (Basel)       Date:  2021-08-13       Impact factor: 4.096

Review 2.  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

3.  Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy.

Authors:  Mandeep S Singh; Suzanne Broadgate; Ranjana Mathur; Richard Holt; Stephanie Halford; Robert E MacLaren
Journal:  Sci Rep       Date:  2016-05-09       Impact factor: 4.379

4.  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

5.  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

6.  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

7.  Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report.

Authors:  Giovanna Carnovale Scalzo; Adriano Carnevali; Gabriele Piccoli; Domenico Ceravolo; Donatella Bruzzichessi; Rodolfo Iuliano; Rossana Tallerico; Valentina Gatti; Giuseppe Giannaccare; Vincenzo Scorcia
Journal:  BMC Ophthalmol       Date:  2021-07-23       Impact factor: 2.209
  7 in total

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