相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes
Igor Ribeiro Ferreira et al.
SCIENTIFIC REPORTS (2020)
Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study
Merlin G. Butler et al.
JOURNAL OF MEDICAL GENETICS (2019)
Prader-Willi syndrome and Angelman syndrome: Visualisation of the molecular pathways for two chromosomal disorders
Friederike Ehrhart et al.
WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY (2019)
Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes
Jasmin Beygo et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2019)
Trends in Birth Weight and the Incidence of Low Birth Weight and Advanced Maternal Age in Korea between 1993 and 2016
Hye-Eun Kim et al.
JOURNAL OF KOREAN MEDICAL SCIENCE (2019)
Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea
Woori Jang et al.
ANNALS OF LABORATORY MEDICINE (2019)
Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update
Merlin G. Butler et al.
CURRENT PEDIATRIC REVIEWS (2019)
Three siblings with Prader-Willi syndrome caused by imprinting center microdeletions and review
Samantha N. Hartin et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome
Preeti Singh et al.
JOURNAL OF MEDICAL GENETICS (2018)
Uniparental Disomy of Chromosome 15 in Two Cases by Chromosome Microarray: A Lesson Worth Thinking
Shu Liu et al.
CYTOGENETIC AND GENOME RESEARCH (2017)
The dilemma of diagnostic testing for Prader-Willi syndrome
Arabella Smith et al.
TRANSLATIONAL PEDIATRICS (2017)
Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects
Maaz Hassan et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2016)
Comparative molecular approaches in Prader-Willi syndrome diagnosis
Anca Botezatu et al.
GENE (2016)
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Disorder
Saeam Shin et al.
ANNALS OF LABORATORY MEDICINE (2015)
Clinical and genetic features of Prader-Willi syndrome in China
Wei Lu et al.
EUROPEAN JOURNAL OF PEDIATRICS (2014)
Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes
Soo-Jeong Kim et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
Prader-Willi Syndrome and Angelman Syndrome
Karin Buiting
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2010)
Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes
Simon C. Ramsden et al.
BMC MEDICAL GENETICS (2010)
A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome
Deniz Kanber et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
Detection and Discrimination between Deletional and Non-Deletional Prader-Willi and Angelman Syndromes by Methylation-Specific PCR and Quantitative Melting Curve Analysis
Wen Wang et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2009)
Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian children:: Sister syndromes not equally represented
Eve Oiglane-Shlik et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Genetic basis of Prader-Willi syndrome in Korea: less uniparental disomy than has been recognized?
HJ Kim et al.
CLINICAL GENETICS (2004)
Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy
MG Butler et al.
PEDIATRICS (2004)
分享论文
