Literature DB >> 18932222

Wolf-Hirschhorn syndrome and the 4p-related syndromes.

Agatino Battaglia1, John C Carey.   

Abstract

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Year:  2008        PMID： 18932222     DOI： 10.1002/ajmg.c.30189

Source DB:  PubMed          Journal:  Am J Med Genet C Semin Med Genet        ISSN： 1552-4868            Impact factor:   3.908


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  4 in total

1.  Wolf-Hirschhorn syndrome candidate 1 is involved in the cellular response to DNA damage.

Authors:  Ildiko Hajdu; Alberto Ciccia; Susanna M Lewis; Stephen J Elledge
Journal:  Proc Natl Acad Sci U S A       Date:  2011-07-25       Impact factor: 11.205

2.  Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa.

Authors:  Sébastien Mbuyi-Musanzayi; Aimé Lumaka; Toni Lubala Kasole; Erick Kasamba Ilunga; Bienvenu Yogolelo Asani; Prosper Lukusa Tshilobo; Prosper Kalenga Muenze; Hervé Reychler; François Tshilombo Katombe; Koenraad Devriendt
Journal:  J Pediatr Genet       Date:  2017-03-07

3.  Disruption of SorCS2 reveals differences in the regulation of stereociliary bundle formation between hair cell types in the inner ear.

Authors:  Andrew Forge; Ruth R Taylor; Sally J Dawson; Michael Lovett; Daniel J Jagger
Journal:  PLoS Genet       Date:  2017-03-27       Impact factor: 5.917

4.  Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.

Authors:  Karen S Ho; Sarah T South; Amanda Lortz; Charles H Hensel; Mallory R Sdano; Rena J Vanzo; Megan M Martin; Andreas Peiffer; Christophe G Lambert; Amy Calhoun; John C Carey; Agatino Battaglia
Journal:  J Med Genet       Date:  2016-01-08       Impact factor: 6.318
  4 in total

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