Chromosome 3q29 deletion with gastrointestinal malformation: a case report
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/article/10.1186/1752-1947-5-285/fulltext.html
Reference12 articles.
1. Alvarado M, Bocian M, Walker AP: Interstitial deletion of the long arm of chromosome 3: case report, review, and definition of a phenotype. Am J Med Genet. 1987, 27 (4): 781-786. 10.1002/ajmg.1320270406.
2. Willatt L, Cox J, Barber J, Cabanas ED, Collins A, Donnai D, FitzPatrick DR, Maher E, Martin H, Parnau J, Pindar L, Ramsay J, Shaw-Smith C, Sistermans EA, Tettenborn M, Trump D, de Vries BB, Walker K, Raymond FL: 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. Am J Hum Genet. 2005, 77 (1): 154-160. 10.1086/431653.
3. Ko WT, Lam WF, Lo FM, Chan WK, Lam TS: Wisconsin Syndrome in a patient with interstitial deletion of the long arm of chromosome 3: further delineation of the phenotype. Am J Med Genet. 2003, 120A (3): 413-417. 10.1002/ajmg.a.20149.
4. Ballif BC, Theisen A, Coppinger J, Gowans GC, Hersh JH, Madan-Khetarpal S, Schmidt KR, Tervo R, Escobar LF, Friedrich CA, McDonald M, Campbell L, Ming JE, Zackai EH, Bejjani BA, Shaffer LG: Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet. 2008, 1: 8-10.1186/1755-8166-1-8.
5. Nguyen T, McDonnell CM, Zacharin MR: Primary ovarian failure and deletions of the long arm of chromosome 3. J Pediatr Endocrinol Metab. 2005, 18 (10): 1013-1017. 10.1515/JPEM.2005.18.10.1013.
Cited by 4 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. Structural deviations of the posterior fossa and the cerebellum and their cognitive links in a neurodevelopmental deletion syndrome;2022-03-02
2. Concomitance of numerical chromosomal alterations with structural in an elderly with Alzheimer’s disease: a case report;Scientia Medica;2019-12-06
3. Caracterización molecular y descripción fenotípica de dos casos con aberraciones cromosómicas recíprocas en la región de los síndromes de microdeleción/microduplicación 3q29;Revista de Neurología;2015
4. Partial monosomy 3q26.33-3q27.3 presenting with intellectual disability, facial dysmorphism, and diaphragm eventration;Clinical Dysmorphology;2014-10
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