Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report-Reference-Cited by-同舟云学术

Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report

Published:2016-07-26 Issue:5 Volume:30 Page:970-974
ISSN:1360-2322
Container-title:Journal of Applied Research in Intellectual Disabilities
language:en
Short-container-title:J Appl Res Intellect Disabil

Author:

Saldarriaga Wilmar¹²,Ruiz Fabian Andres¹,Tassone Flora³⁴,Hagerman Randi⁵⁶

Affiliation:

1. Research Group in congenital & perinatal malformations and Dysmorphology (MACOS); University of Valle; Cali Valle Colombia

2. Departments of Morphology and Obstetrics & Gynecology; University of Valle; Cali Valle Colombia

3. Department of Biochemistry and Molecular Medicine; School of Medicine; University of California; Sacramento CA USA

4. MIND Institute; University of California, Davis, Medical Center; Sacramento CA USA

5. Medical Investigation of Neurodevelopmental Disorders MIND Institute; Sacramento CA USA

6. Department of Pediatrics; UC Davis Medical Center; Sacramento CA USA

Funder

University of Valle

Health Resources and Services Administration

MIND Institute, University of California, Davis

Publisher

Wiley

Subject

Developmental and Educational Psychology,Education

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jar.12272/fullpdf

Reference25 articles.

1. A male with cooccurrence of down syndrome and fragile X syndrome;Anderson;Case Reports in Genetics,2013

2. The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of down syndrome;Mégarbané;Genetics in Medicine,2009

3. A fragile X female with down syndrome;Arinami;Human Genetics,1987

4. Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics;Bagni;The Journal of Clinical Investigation,2012

5. Improved national prevalence estimates for 18 selected major birth defects-United States, 1999-2001;Centers for Disease Control;MMWR. Morbidity and Mortality Weekly Report,2006

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. Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases;Journal of Medical Genetics;2023-08-16

2. Phenotypic variability to medication management: an update on fragile X syndrome;Human Genomics;2023-07-07

3. Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis;Genes;2021-11-27

4. Double Genetic Hit: Fragile X Syndrome and Partial Deletion of Protein Patched Homolog 1 Antisense as Cause of Severe Autism Spectrum Disorder;Journal of Developmental & Behavioral Pediatrics;2020-09-15

5. Coexistence of Fragile-X Syndrome, 8p23.1 Deletion, and Balanced Translocation t(7;10)(p10;q24) in a Single Family;Genetic Testing and Molecular Biomarkers;2020-08-01