Diagnosing Smith–Magenis Syndrome and Duplication 17p11.2 Syndrome byRAI1Gene Copy Number Variation Using Quantitative Real-Time PCR-Reference-Cited by-同舟云学术

Diagnosing Smith–Magenis Syndrome and Duplication 17p11.2 Syndrome byRAI1Gene Copy Number Variation Using Quantitative Real-Time PCR

Published:2008-03 Issue:1 Volume:12 Page:67-73
ISSN:1090-6576
Container-title:Genetic Testing
language:en
Short-container-title:Genetic Testing

Author:

Truong Hoa T.¹,Solaymani-Kohal Sara²,Baker Kevin R.³,Girirajan Santhosh⁴,Williams Stephen R.⁴,Vlangos Christopher N.⁴,Smith Ann C.M.⁵⁶,Bunyan David J.³,Roffey Paul E.¹,Blanchard Christopher L.¹,Elsea Sarah H.⁴

Affiliation:

1. Faculty of Science, Charles Sturt University, Wagga Wagga, NSW, Australia.

2. University of the West of England, Bristol, United Kingdom.

3. Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom.

4. Departments of Pediatrics and Human Genetics, Virginia Commonwealth University, Richmond, Virginia.

5. Office of the Clinical Director, NHGRI, National Institutes of Health, Bethesda, Maryland.

6. Georgetown University Medical Center, Washington, District of Columbia.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical)

Link

http://www.liebertpub.com/doi/pdf/10.1089/gte.2007.0058

Reference26 articles.

1. Real-time quantitative polymerase chain reaction

2. Reciprocal Crossovers and a Positional Preference for Strand Exchange in Recombination Events Resulting in Deletion or Duplication of Chromosome 17p11.2

3. Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

4. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

Cited by 13 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. SMITH–MAGENIS SYNDROME;Cassidy and Allanson's Management of Genetic Syndromes;2020-10-30

2. Comparison of village dog and wolf genomes highlights the role of the neural crest in dog domestication;BMC Biology;2018-06-28

3. Comparison of village dog and wolf genomes highlights the pivotal role of the neural crest in dog domestication;2017-03-21

4. Moyamoya in a Patient with Smith-Magenis Syndrome;Pediatric Neurosurgery;2017

5. MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith–Magenis and fragile X syndromes;European Journal of Human Genetics;2014-10-01