Literature DB >> 20683996

A family with a 1.17 Mb deletion of 12q12: refining genotype-phenotype correlation.

Margaret P Adam1, Ami Mehta, Linda Knight, David E Hall, Michael R Rossi.   

Abstract

Mesh：

Year:  2010        PMID： 20683996     DOI： 10.1002/ajmg.a.33570

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


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  3 in total

1.  Deletion at 12q12 increases the risk of developmental delay and intellectual disability.

Authors:  Ying Weng; Xiaoping Luo; Ling Hou
Journal:  Ann Hum Genet       Date:  2018-08-29       Impact factor: 1.670

2.  Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications.

Authors:  Lynnea Myers; Moira Blyth; Kamran Moradkhani; Dubravka Hranilović; Sam Polesie; Johan Isaksson; Ann Nordgren; Maja Bucan; Marie Vincent; Sven Bölte; Britt-Marie Anderlid; Kristiina Tammimies
Journal:  Mol Genet Genomic Med       Date:  2019-11-15       Impact factor: 2.183

3.  Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31.

Authors:  Jonathan D J Labonne; Terri M Driessen; Marvin E Harris; Il-Keun Kong; Soumia Brakta; John Theisen; Modibo Sangare; Lawrence C Layman; Cheol-Hee Kim; Janghoo Lim; Hyung-Goo Kim
Journal:  J Clin Med       Date:  2020-01-19       Impact factor: 4.241
  3 in total

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