Literature DB >> 11334012

Clinical and cytogenetic characterisation of a patient with Down syndrome resulting from a 21q22.1-->qter duplication.

M Nadal, C G Vigo, M I Melaragno, J A Andrade, L G Alonso, D Brunoni, M Pritchard, X Estivill.   

Abstract

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Year:  2001        PMID： 11334012      PMCID： PMC1734728          DOI： 10.1136/jmg.38.1.73

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


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  2 in total

Review 1.  Genetic and epigenetic pathways in Down syndrome: Insights to the brain and immune system from humans and mouse models.

Authors:  Y Eugene Yu; Zhuo Xing; Catherine Do; Annie Pao; Eun Joon Lee; Sharon Krinsky-McHale; Wayne Silverman; Nicole Schupf; Benjamin Tycko
Journal:  Prog Brain Res       Date:  2019-10-24       Impact factor: 2.453

2.  A rare de novo duplication of chromosome 21q22.12 → q22.3 with other concomitant deletion and duplication of small fragments in 21q associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization.

Authors:  Qingwei Qi; Xiya Zhou; Yulin Jiang; Na Hao; Jing Zhou; Liang Zhang
Journal:  Mol Cytogenet       Date:  2013-03-06       Impact factor: 2.009
  2 in total

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