Literature DB >> 17230491

Duplication of 14q11.2 associates with short stature and mild mental retardation: a putative relation with quantitative trait loci.

Sandra Monfort1, David Blesa, Mónica Roselló, Carmen Orellana, Silvestre Oltra, Juan Cruz Cigudosa, Francisco Martínez.   

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Year:  2007        PMID： 17230491     DOI： 10.1002/ajmg.a.31608

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


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  5 in total

1.  In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients.

Authors:  Sonia Mayo; Sandra Monfort; Mónica Roselló; Silvestre Oltra; Carmen Orellana; Francisco Martínez
Journal:  Biomed Res Int       Date:  2015-05-27       Impact factor: 3.411

2.  Characterization of a Small Supernumerary Marker Chromosome Derived from Xq28 and 14q11.2 Detected Prenatally.

Authors:  Akihiro Hasegawa; Osamu Samura; Taisuke Sato; Tomona Matsuoka; Yuki Ito; Kazuhiro Kajiwara; Hiroaki Aoki; Yuka Inage; Masahisa Kobayashi; Aikou Okamoto
Journal:  Case Rep Obstet Gynecol       Date:  2018-05-07

3.  Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report.

Authors:  J B Wu; J Sha; J F Zhai; Y Liu; B Zhang
Journal:  Mol Cytogenet       Date:  2020-02-06       Impact factor: 2.009

4.  Two cases of partial trisomy 4p and partial trisomy 14q.

Authors:  Yeo-Hyang Kim; Heung-Sik Kim; Nam-Hee Ryoo; Jung-Sook Ha
Journal:  Ann Lab Med       Date:  2012-12-17       Impact factor: 3.464

5.  An 18.3-Mb Duplication on Chromosome 14q With Multiple Cardiac Anomalies and Clubfoot Was Identified by Microarray Analysis.

Authors:  Jihoon G Yoon; Saeam Shin; Jo Won Jung; Seung-Tae Lee; Jong Rak Choi
Journal:  Ann Lab Med       Date:  2016-03       Impact factor: 3.464
  5 in total

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