Literature DB >> 11288715

Molecular characterisation of a proximal chromosome 18q deletion.

M McEntagart, A Carey, C Breen, S McQuaid, R L Stallings, A J Green, M D King.   

Abstract

Mesh：

Year:  2001        PMID： 11288715      PMCID： PMC1734797          DOI： 10.1136/jmg.38.2.128

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  2 in total

1.  Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity.

Authors:  Christina Halgren; Iben Bache; Mads Bak; Mikkel Wanting Myatt; Claire Marie Anderson; Karen Brøndum-Nielsen; Niels Tommerup
Journal:  Eur J Hum Genet       Date:  2012-05-23       Impact factor: 4.246

2.  Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects.

Authors:  Kitiwan Rojnueangnit; Chariyawan Charalsawadi; Weerin Thammachote; Ariya Pradabmuksiri; Thipwimol Tim-Aroon; Antonio Novelli; Sara Loddo; Silvana Briuglia; Cutrupi M Concetta; Duangrurdee Wattanasirichaigoon; Natini Jinawath
Journal:  Mol Genet Genomic Med       Date:  2019-08-07       Impact factor: 2.183
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.