Mosaicism and prenatal diagnosis options: insights from retinoblastoma-Reference-Cited by-同舟云学术

Mosaicism and prenatal diagnosis options: insights from retinoblastoma

Published:2016-12-21 Issue:3 Volume:25 Page:381-383
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Dehainault Catherine,Golmard Lisa,Millot Gaël A,Charpin Agathe,Laugé Anthony,Tarabeux Julien,Aerts Isabelle,Cassoux Nathalie,Stoppa-Lyonnet Dominique,Gauthier-Villars Marion,Houdayer Claude

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2016174.pdf

Reference11 articles.

1. Castera L, Gauthier-Villars M, Dehainault C et al: Mosaicism in clinical practice exemplified by prenatal diagnosis in retinoblastoma. Prenat Diagn 2011; 31: 1106–1108.

2. Lohmann D, Gallie B, Dommering C, Gauthier-Villars M : Clinical utility gene card for: retinoblastoma. Eur J Hum Genet, e-pub ahead of print 19 March 2011 doi:10.1038/ejhg.2010.200.

3. Price EA, Price K, Kolkiewicz K et al: Spectrum of RB1 mutations identified in 403 retinoblastoma patients. J Med Genet 2014; 51: 208–214.

4. Sippel KC, Fraioli RE, Smith GD et al: Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling. Am J Hum Genet 1998; 62: 610–619.

5. Houdayer C, Gauthier-Villars M, Castéra L, Desjardins L, Doz F, Stoppa-Lyonnet D 2012, Retinoblastoma - Genetic Counseling and Molecular Diagnosis. Available from: http://www.intechopen.com/books/retinoblastoma-an-update-on-clinical-genetic-counseling-epidemiology-and-molecular-tumor-biology/retinoblastoma-genetic-counseling-protocols-and-molecular-diagnostic-protocols- .

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