Literature DB >> 12362043

A rare case of a de novo dup(19q) associated with a mild phenotype.

M Qorri, P Oei, H Dockery, J McGaughran.   

Abstract

Mesh：

Year:  2002        PMID： 12362043      PMCID： PMC1734984          DOI： 10.1136/jmg.39.10.e61

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


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  4 in total

1.  A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay.

Authors:  Licia Lugli; Michela Malacarne; Simona Cavani; Mauro Pierluigi; Fabrizio Ferrari; Antonio Percesepe
Journal:  J Appl Genet       Date:  2011-03-03       Impact factor: 3.240

2.  19q12q13.2 duplication syndrome: neuropsychiatric long-term follow-up of a new case and literature update.

Authors:  Renata Nacinovich; Nicoletta Villa; Fiorenza Broggi; Cristina Tavaniello; Monica Bomba; Donatella Conconi; Serena Redaelli; Elena Sala; Marialuisa Lavitrano; Francesca Neri
Journal:  Neuropsychiatr Dis Treat       Date:  2017-10-04       Impact factor: 2.570

3.  A Novel 1.13 Mb Interstitial Duplication at 19q13.32 Causing Developmental Delay and Microcephaly in a Pediatric Patient: the First Asian Case Reports.

Authors:  John Hoon Rim; Jeong A Kim; Jongha Yoo
Journal:  Yonsei Med J       Date:  2017-11       Impact factor: 2.759

4.  Duplication of 19q (13.2-13.31) associated with comitant esotropia: A case report.

Authors:  Yue-Lan Feng; Ning-Dong Li
Journal:  World J Clin Cases       Date:  2021-07-16       Impact factor: 1.337
  4 in total

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