Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14-Reference-Cited by-同舟云学术

Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14

Published:2010-10-26 Issue:11 Volume:152A Page:2865-2869
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Guilherme Roberta Santos,de Freitas Ayres Meloni Vera,Sodré Claudete Palmer,Christofolini Denise Maria,Pellegrino Renata,de Mello Claudia Berlim,Conlin Laura Kathleen,Hutchinson Anne Lawlor,Spinner Nancy Bettina,Brunoni Decio,Kulikowski Leslie Domenici,Melaragno Maria Isabel

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33689/fullpdf

Reference24 articles.

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2. The r(14) syndrome. 3 new observations;Gilgenkrantz;Ann Genet,1984

3. A genome-wide scalable SNP genotyping assay using microarray technology;Gunderson;Nat Genet,2005

4. Retinal/macular pigmentation in conjunction with ring 14 chromosome;Howard;Hum Genet,1988

5. Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion;Knijnenburg;Eur J Hum Genet,2007

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2. Position effect modifying gene expression in a patient with ring chromosome 14;Journal of Applied Genetics;2015-08-28

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4. Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion;American Journal of Medical Genetics Part A;2014-04-03

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