Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications

Published:2016-01-08 Issue:4 Volume:170 Page:1050-1058
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Mekkawy Mona K.¹,Mazen Inas M.²,Kamel Alaa K.¹,Vater Inga³,Zaki Maha S.²

Affiliation:

1. Division of Human Genetics and Genome Research; Department of Human Cytogenetics; National Research Centre; Cairo Egypt

2. Division of Human Genetics and Genome Research; Department of Clinical Genetics; National Research Centre; Cairo Egypt

3. Institute of Human Genetics; Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein; Campus Kiel; Kiel Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37523/fullpdf

Reference45 articles.

1. Agenesis of the corpus callosum: Clinical and genetic study in 63 young patients;Bedeschi;Pediatr Neurol,2006

2. The end of the beginning of chromosome ends;Biesecker;Am J Med Genet,2002

3. Protein levels of genes encoded on chromosome 21 in fetal Down syndrome brain: Challenging the gene dosage effect hypothesis (Part III);Cheon;Amino Acids,2003

4. Intrinsic abnormalities of lymphocyte counts in children with Down syndrome;de Hingh;J Pediatr,2005

5. Telomeres: A diagnosis at the end of the chromosomes;De Vries;J Med Genet,2003

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Alzheimer disease and neuroinflammation in Down syndrome;Genetics and Neurobiology of Down Syndrome;2022

2. Alzheimer's Disease in the Down Syndrome: An Overview of Genetics and Molecular Aspects;Neurology India;2021

3. C2H2-Type Zinc Finger Proteins in Brain Development, Neurodevelopmental, and Other Neuropsychiatric Disorders: Systematic Literature-Based Analysis;Frontiers in Neurology;2020-02-14

4. Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay;Genetics and Molecular Biology;2020

5. Genotype-phenotype correlation for congenital heart disease in Down syndrome through analysis of partial trisomy 21 cases;Genomics;2017-10

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3