Literature DB >> 18449929

Is trisomy 14 mosaic a clinically recognizable syndrome?--case report and review.

Erika von Sneidern1, Yves Lacassie.   

Abstract

Mesh：

Year:  2008        PMID： 18449929     DOI： 10.1002/ajmg.a.32334

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


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  8 in total

Review 1.  Constitutional and acquired autosomal aneuploidy.

Authors:  Colleen Jackson-Cook
Journal:  Clin Lab Med       Date:  2011-12       Impact factor: 1.935

2.  Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study.

Authors:  Cha Gon Lee; Sang-Jin Park; Jun-No Yun; Jung Min Ko; Hyon-Ju Kim; Shin-Young Yim; Young Bae Sohn
Journal:  Yonsei Med J       Date:  2013-11       Impact factor: 2.759

3.  A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review.

Authors:  Maria Yakoreva; Tiina Kahre; Sander Pajusalu; Piret Ilisson; Olga Žilina; Vallo Tillmann; Tiia Reimand; Katrin Õunap
Journal:  Mol Syndromol       Date:  2018-05-18

4.  Congenital ocular anomaly in an infant with trisomy 14 mosaicism.

Authors:  Jun Ho Choi; Youn Joo Choi; So Young Kim
Journal:  Korean J Ophthalmol       Date:  2012-07-24

5.  Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis.

Authors:  Consuelo Salas-Labadía; Esther Lieberman; Roberto Cruz-Alcívar; Pilar Navarrete-Meneses; Samuel Gómez; Consuelo Cantú-Reyna; Karin Buiting; Carola Durán-McKinster; Patricia Pérez-Vera
Journal:  Mol Cytogenet       Date:  2014-09-25       Impact factor: 2.009

6.  Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability.

Authors:  Shujie Zhang; Haisong Qin; Jin Wang; Luping OuYang; Shiyu Luo; Chunyun Fu; Xin Fan; Jiasun Su; Rongyu Chen; Bobo Xie; Xuyun Hu; Shaoke Chen; Yiping Shen
Journal:  Mol Cytogenet       Date:  2016-08-24       Impact factor: 2.009

7.  Complete trisomy 14 mosaicism: first live-born case in Korea.

Authors:  Yun Jung Hur; Taegyu Hwang
Journal:  Korean J Pediatr       Date:  2012-10-29

8.  Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior.

Authors:  Matthew D Shirley; Laurence Frelin; José Soria López; Anne Jedlicka; Amanda Dziedzic; Michelle A Frank-Crawford; Wayne Silverman; Louis Hagopian; Jonathan Pevsner
Journal:  PLoS One       Date:  2016-03-02       Impact factor: 3.240
  8 in total

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