Literature DB >> 18387282

Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa.

Marco Castori, Giovanna Floriddia, Elisa Pisaneschi, Claudia Covaciu, Mauro Paradisi, Isabella Torrente, Daniele Castiglia.   

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Year:  2008        PMID： 18387282     DOI： 10.1016/j.jdermsci.2008.02.006

Source DB:  PubMed          Journal:  J Dermatol Sci        ISSN： 0923-1811            Impact factor:   4.563


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  4 in total

1.  [Molecular diagnostics in genodermatoses].

Authors:  Martin Laimer; Johann W Bauer; Roland Lang
Journal:  Hautarzt       Date:  2015-03       Impact factor: 0.751

2.  CRISPR/Cas9-Mediated In Situ Correction of LAMB3 Gene in Keratinocytes Derived from a Junctional Epidermolysis Bullosa Patient.

Authors:  Daniela Benati; Francesca Miselli; Fabienne Cocchiarella; Clarissa Patrizi; Marta Carretero; Samantha Baldassarri; Virginia Ammendola; Cristina Has; Stefano Colloca; Marcela Del Rio; Fernando Larcher; Alessandra Recchia
Journal:  Mol Ther       Date:  2018-08-04       Impact factor: 11.454

Review 3.  Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.

Authors:  Jessica E King; Amy Dexter; Inder Gadi; Val Zvereff; Meaghan Martin; Miriam Bloom; Adeline Vanderver; Amy Pizzino; Johanna L Schmidt
Journal:  J Genet Couns       Date:  2014-04-30       Impact factor: 2.537

4.  Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn.

Authors:  Rebecca Higgins; Annika N Jensen; Julian Wachstein; Leena Bruckner-Tuderman; Roland Spiegel; Hubert Traber; Josef Achermann; Martin Schaller; Birgit Fehrenbacher; Martin Röcken; Desislava Ignatova; Yun-Tsan Chang; Tina Fischer; Agnes E Schwieger-Briel; Lars E French; Wolfram Hoetzenecker; René Hornung; Andreas Malzacher; Antonio Cozzio; Alexander Navarini; Cristina Has; Emmanuella Guenova
Journal:  Acta Derm Venereol       Date:  2020-01-30       Impact factor: 3.875
  4 in total

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