Literature DB >> 17986308

Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis.

A C Thomas1, C Sinclair, N Mahmud, T Cullup, J E Mellerio, J Harper, B A Dale, C Turc-Carel, D Hohl, J A McGrath, A Vahlquist, M Hellstrom-Pigg, A Ganemo, K Metcalfe, C A Mein, E A O'Toole, D P Kelsell.   

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Year:  2007        PMID: 17986308     DOI: 10.1111/j.1365-2133.2007.08277.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN: 0007-0963            Impact factor:   9.302


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  5 in total

1.  Overexpression of constitutively active BMP-receptor-IB in mouse skin causes an ichthyosis-vulgaris-like disease.

Authors:  Xueyan Yu; Ramón A Espinoza-Lewis; Cheng Sun; Lisong Lin; Fenglei He; Wei Xiong; Jing Yang; Alun Wang; Yiping Chen
Journal:  Cell Tissue Res       Date:  2010-11-16       Impact factor: 5.249

2.  Harlequin Baby.

Authors:  A N Prasad
Journal:  Med J Armed Forces India       Date:  2011-07-21

3.  Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis.

Authors:  Anna C Thomas; Daniel Tattersall; Elizabeth E Norgett; Edel A O'Toole; David P Kelsell
Journal:  Am J Pathol       Date:  2009-01-29       Impact factor: 4.307

4.  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

5.  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 in total

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