Literature DB >> 20358621

Interstitial microdeletion of 4p16.3: contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome.

Kosuke Izumi, Hironobu Okuno, Katsuhiro Maeyama, Seiji Sato, Toshiyuki Yamamoto, Chiharu Torii, Rika Kosaki, Takao Takahashi, Kenjiro Kosaki.   

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Year:  2010        PMID： 20358621     DOI： 10.1002/ajmg.a.33121

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  6 in total

1.  Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome.

Authors:  Erica F Andersen; John C Carey; Dawn L Earl; Deyanira Corzo; Michael Suttie; Peter Hammond; Sarah T South
Journal:  Eur J Hum Genet       Date:  2013-08-21       Impact factor: 4.246

2.  Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.

Authors:  Bradley P Coe; Holly A F Stessman; Arvis Sulovari; Madeleine R Geisheker; Trygve E Bakken; Allison M Lake; Joseph D Dougherty; Ed S Lein; Fereydoun Hormozdiari; Raphael A Bernier; Evan E Eichler
Journal:  Nat Genet       Date:  2018-12-17       Impact factor: 38.330

Review 3.  From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature.

Authors:  Luisa Cortellazzo Wiel; Irene Bruno; Egidio Barbi; Fabio Sirchia
Journal:  Ital J Pediatr       Date:  2022-05-12       Impact factor: 3.288

4.  Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports.

Authors:  F Sheth; O R Akinde; C Datar; O V Adeteye; J Sheth
Journal:  Case Rep Genet       Date:  2012-11-22

5.  LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition.

Authors:  Lesley Hart; Anita Rauch; Antony M Carr; Joris R Vermeesch; Mark O'Driscoll
Journal:  Dis Model Mech       Date:  2014-03-13       Impact factor: 5.758

6.  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
  6 in total

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