The ring 14 syndrome: Clinical and molecular definition-Reference-Cited by-同舟云学术

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The ring 14 syndrome: Clinical and molecular definition

Published:2009-06 Issue:6 Volume:149A Page:1116-1124
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Zollino Marcella,Seminara Laura,Orteschi Daniela,Gobbi Giuseppe,Giovannini Simona,Giustina Elvio Della,Frattini Daniele,Scarano Angela,Neri Giovanni

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32831/fullpdf

Reference10 articles.

1. Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features;Bisgaard;Am J Med Genet Part A,2006

2. The cytogenetic and clinical implication of a ring chromosome 2;Cote;Ann Genet,1981

3. Human bZIP transcription factor gene NRL: Structure, genomic sequence, and fine linkage mapping at 14q11.2 and negative mutation analysis in patients with retinal degeneration;Farjo;Genomics,1997

4. Brain factor-1 controls the proliferation and differentiation of neocortical progenitor cells through independent mechanisms;Hanashima;J Neurosci,2002

5. Does “ring syndrome” exists? An analysis of 207 case reports on patients with a ring autosome;Kosztolànyi;Hum Genet,1987

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1. Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report;Molecular Cytogenetics;2024-07-18

2. Ring Chromosome 14;Human Ring Chromosomes;2024

3. Robertsonian translocation (13;14) and its clinical manifestations: a literature review;REPROD BIOMED ONLINE;2022

4. Robertsonian translocation (13;14) and its clinical manifestations: a literature review;Reproductive BioMedicine Online;2022-09

5. Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact;The American Journal of Human Genetics;2022-08

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