Literature DB >> 22992804

Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases.

Claire A Scott, Vincent Plagnol, Daniela Nitoiu, Philip J Bland, Diana C Blaydon, Catherine M Chronnell, Daniel S Poon, David Bourn, László Gárdos, Andrea Császár, Mariann Tihanyi, Malcolm Rustin, Nigel P Burrows, Chris Bennett, John I Harper, Bernard Conrad, Ishwar C Verma, Saleem M Taibjee, Celia Moss, Edel A O'Toole, David P Kelsell.   

Abstract

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Year:  2012        PMID： 22992804     DOI： 10.1038/jid.2012.332

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  6 in total

Review 1.  [Practical aspects of molecular diagnostics in genodermatoses].

Authors:  C Has; Y He
Journal:  Hautarzt       Date:  2016-01       Impact factor: 0.751

2.  A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.

Authors:  Martha Montalván-Suárez; Uxia Saraiva Esperón-Moldes; Laura Rodríguez-Pazos; Andrés Ordóñez-Ugalde; Fernanda Moscoso; Nora Ugalde-Noritz; Luis Santomé; Laura Fachal; Daniel Tettamanti-Miranda; Juan Carlos Ruiz; Manuel Ginarte; Ana Vega
Journal:  Mol Genet Genomic Med       Date:  2019-03-27       Impact factor: 2.183

3.  Case Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case Report.

Authors:  Jiao Liu; Xingyu Zhang; Weilan Wang; Xiaofang Lan; Minyue Dong; Kai Yan; Yongliang Lei; Penglong Chen; Mufeng Yang; Qunda Shan; Chunlei Jin
Journal:  Front Genet       Date:  2021-01-12       Impact factor: 4.599

4.  Discovery in genetic skin disease: the impact of high throughput genetic technologies.

Authors:  Thiviyani Maruthappu; Claire A Scott; David P Kelsell
Journal:  Genes (Basel)       Date:  2014-08-04       Impact factor: 4.096

5.  Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.

Authors:  Andrea Diociaiuti; May El Hachem; Elisa Pisaneschi; Simona Giancristoforo; Silvia Genovese; Pietro Sirleto; Renata Boldrini; Adriano Angioni
Journal:  Orphanet J Rare Dis       Date:  2016-01-13       Impact factor: 4.123

6.  Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.

Authors:  Uxia Esperón-Moldes; Manuel Ginarte-Val; Laura Rodríguez-Pazos; Laura Fachal; Ana Martín-Santiago; Asunción Vicente; David Jiménez-Gallo; Encarna Guillén-Navarro; Loreto Martorell Sampol; María Antonia González-Enseñat; Ana Vega
Journal:  PLoS One       Date:  2020-02-18       Impact factor: 3.240
  6 in total

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