Literature DB >> 11015462

Partial tetrasomy 21 in a male infant.

A M Slavotinek, X N Chen, A Jackson, L Gaunt, A Campbell, J Clayton-Smith, J R Korenberg.   

Abstract

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Year:  2000        PMID： 11015462      PMCID： PMC1757147          DOI： 10.1136/jmg.37.10.e30

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


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  4 in total

1.  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

2.  Detection of chromosomal abnormalities in spontaneous miscarriage by low‑coverage next‑generation sequencing.

Authors:  Fen-Xia Li; Mei-Juan Xie; Shou-Fang Qu; Dan He; Long Wu; Zhi-Kun Liang; Ying-Song Wu; Fang Yang; Xue-Xi Yang
Journal:  Mol Med Rep       Date:  2020-06-03       Impact factor: 2.952

Review 3.  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

4.  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
  4 in total

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