A girl with Down syndrome and partial trisomy for 21pter-q22.13: A clue to narrow the Down syndrome critical region-Reference-Cited by-同舟云学术

A girl with Down syndrome and partial trisomy for 21pter-q22.13: A clue to narrow the Down syndrome critical region

Published:2007 Issue:1 Volume:146A Page:124-127
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Sato Daisuke,Kawara Hiroki,Shimokawa Osamu,Harada Naoki,Tonoki Hidefumi,Takahashi Nobuhiro,Imai Yumi,Kimura Hiromi,Matsumoto Naomichi,Ariga Tadashi,Niikawa Norio,Yoshiura Koh-ichiro

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference13 articles.

1. Chromosome 21 and Down syndrome: from genomics to pathophysiology

2. NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21

3. Molecular Mapping of Twenty-Four Features of Down Syndrome on Chromosome 21

4. Cryptic duplication of 21q in an individual with a clinical diagnosis of Down syndrome

5. Clinical diagnosis of Down's syndrome

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1. Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association;BMC Medical Genomics;2022-12-21

2. Partial trisomy 21 with or without highly restricted-Down syndrome critical region (HR- DSCR). Report of two new cases and reanalysis of the genotype-phenotype association;2022-12-07

3. 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;Journal of Genetics;2014-03-27

4. Down Syndrome;Neural Circuit Development and Function in the Brain;2013

5. A patient with Down syndrome with a de novo derivative chromosome 21;Gene;2012-10