Another patient with 12q13 microduplication-Reference-Cited by-同舟云学术

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Another patient with 12q13 microduplication

Published:2013-07-03 Issue:8 Volume:161 Page:2004-2008
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Bertoli M.¹,Alesi V.¹,Gullotta F.²,Zampatti S.²,Abate M.R.²,Palmieri C.¹,Novelli A.³,Frontali M.²,Nardone A. M.²

Affiliation:

1. S. Pietro Fatebenefratelli Hospital; UOSD Medical Genetics; Rome; Italy

2. U.O.C. Medical Genetics Laboratory of the University Polyclinic of Tor Vergata; Rome; Italy

3. Mendel Laboratory; Casa Sollievo della Sofferenza Hospital; IRCCS; San Giovanni Rotondo; Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35991/fullpdf

Reference11 articles.

1. Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: Experience with 87 patients and recommendations for routine health supervision;Battaglia;Am J Med Genet Part C,2008

2. Five cases of supernumerary small ring chromosomes 1: Heterogeneity and genotype-phenotype correlation;Bernardini;Eur J Med Genet,2007

3. Phenocopy of Wolf-Hirschhorn syndrome in a patient with duplication 12q13.3q14.1;Dallapiccola;Am J Med Genet Part A,2009

4. Partial distal 12q trisomy;de Muelenaere;Ann Genet,1980

5. Mosaicism for duplication 12q (12q13 → q24.2) in a dysmorphic male infant;Dixon;J Med Genet,1993

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. Structural variation in families with speech and language disorder provides a deeper understanding of the genetic basis for naturally acquired speech;2023-05-31

2. Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review;Molecular Cytogenetics;2017-06-19

3. A CNV Catalogue;Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis;2017

4. The PHR proteins: intracellular signaling hubs in neuronal development and axon degeneration;Neural Development;2016-03-23

5. Absent abdominal muscles, nephro-urologic abnormalities, and severe neurologic damage in an infant with 3 chromosomal duplications: A novel syndrome?;Egyptian Journal of Medical Human Genetics;2015-04

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