Literature DB >> 14985397

Tetrasomy 21pter-->q21.2 in a male infant without typical Down's syndrome dysmorphic features but moderate mental retardation.

I Rost, H Fiegler, C Fauth, P Carr, T Bettecken, J Kraus, C Meyer, A Enders, A Wirtz, T Meitinger, N P Carter, M R Speicher.   

Abstract

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Year:  2004        PMID： 14985397      PMCID： PMC1735700          DOI： 10.1136/jmg.2003.011833

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


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  6 in total

1.  Concurrent psu dic(21)(q22.3) and t(13;17)(q14.1;p12) in a mosaic Down's syndrome patient: review of thirty-one similar dicentrics.

Authors:  Horacio Rivera; Ana I Vásquez-Velásquez
Journal:  J Genet       Date:  2014-04       Impact factor: 1.166

2.  The HSA21 gene EURL/C21ORF91 controls neurogenesis within the cerebral cortex and is implicated in the pathogenesis of Down Syndrome.

Authors:  Shan Shan Li; Zhengdong Qu; Matilda Haas; Linh Ngo; You Jeong Heo; Hyo Jung Kang; Joanne Maria Britto; Hayley Daniella Cullen; Hannah Kate Vanyai; Seong-Seng Tan; Tailoi Chan-Ling; Jenny Margaret Gunnersen; Julian Ik-Tsen Heng
Journal:  Sci Rep       Date:  2016-07-11       Impact factor: 4.379

3.  Investigation of copy number variations on chromosome 21 detected by comparative genomic hybridization (CGH) microarray in patients with congenital anomalies.

Authors:  Wenfu Li; Xianfu Wang; Shibo Li
Journal:  Mol Cytogenet       Date:  2018-08-10       Impact factor: 2.009

Review 4.  Genes Associated with Disturbed Cerebral Neurogenesis in the Embryonic Brain of Mouse Models of Down Syndrome.

Authors:  Keiichi Ishihara
Journal:  Genes (Basel)       Date:  2021-10-11       Impact factor: 4.096

5.  Identifying Patients with Atrioventricular Septal Defect in Down Syndrome Populations by Using Self-Normalizing Neural Networks and Feature Selection.

Authors:  Xiaoyong Pan; Xiaohua Hu; Yu Hang Zhang; Kaiyan Feng; Shao Peng Wang; Lei Chen; Tao Huang; Yu Dong Cai
Journal:  Genes (Basel)       Date:  2018-04-12       Impact factor: 4.096

6.  Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.

Authors:  Vincent Gatinois; Nicole Bigi; Eve Mousty; Jean Chiesa; Yuri Musizzano; Anouck Schneider; Geneviève Lefort; Lucile Pinson; Jean-Baptiste Gaillard; Clémence Ragon; Marie-Josée Perez; Magali Tournaire; Patricia Blanchet; Carole Corsini; Emmanuelle Haquet; Patrick Callier; David Geneviève; Franck Pellestor; Jacques Puechberty
Journal:  Mol Genet Genomic Med       Date:  2019-09-07       Impact factor: 2.183
  6 in total

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