Molecular classes in 209 patients with Prader-Willi or Angelman syndromes: Lessons for genetic counseling
Author:
Affiliation:
1. Laboratorio de Genética y Enfermedades Metabólicas; Instituto de Nutrición y Tecnología de los Alimentos (INTA); Universidad de Chile; Santiago Chile
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference7 articles.
1. Prader-Willi syndrome;Cassidy;Genet Med,2012
2. Genetics of Angelman syndrome;Jiang;Am J Hum Genet,1999
3. Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15) mat through meiosis 1 errors;Matsubara;J Hum Genet,2011
4. MRC Holland 2014 http://www.mlpa.com/WebForms/WebFormProductDetails.aspx?Tag=_tz2fAPIAupKyMjaDF-E-t9bmuxqlhe_Lgqfk8Hkjuss.&ProductOID=_HukvlkjzRho
5. Estudio epidemiológico global del síndrome de Down;Nazer;Rev Chil Pediatr,2011
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1. Expanding deep phenotypic spectrum associated with atypical pathogenic structural variations overlapping 15q11–q13 imprinting region;Brain and Behavior;2024-04
2. Identification of novel variations of oculocutaneous albinism type 2 with Prader–Willi syndrome/Angelman syndrome in two Chinese families;Frontiers in Genetics;2023-03-06
3. Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China;Molecular Cytogenetics;2019-02-18
4. Angelman syndrome in Hong Kong Chinese: A 20 years’ experience;European Journal of Medical Genetics;2016-06
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