Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics-Reference-Cited by-同舟云学术

Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics

Published:2011-09-21 Issue:2 Volume:20 Page:161-165
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Hanemaaijer Nicolien M,Sikkema-Raddatz Birgit,van der Vries Gerben,Dijkhuizen Trijnie,Hordijk Roel,van Essen Anthonie J,Veenstra-Knol Hermine E,Kerstjens-Frederikse Wilhelmina S,Herkert Johanna C,Gerkes Erica H,Leegte Lamberta K,Kok Klaas,Sinke Richard J,van Ravenswaaij-Arts Conny M A

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2011174.pdf

Reference21 articles.

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3. Sebat J, Lakshmi B, Troge J et al: Large-scale copy number polymorphism in the human genome. Science 2004; 305: 525–528.

4. Schinzel A : Catalogue of Unbalanced Chromosome Aberrations In Man, 2nd ed 2001, Berlin: New York, de Gruyter; p 33.

5. Bisgaard AM, Kirchhoff M, Nielsen JE et al: Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants? Eur J Med Genet 2007; 50: 243–255.

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