original ) (raw )Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients
Monica Varela
Clinical Genetics, 2004
View PDFchevron_right
Clinical-etiologic correlation in children with Prader-Willi syndrome (PWS): An interdisciplinary study
Silvia Caino , Vivian Leske , Veronica Araoz
American Journal of Medical Genetics Part A, 2007
View PDFchevron_right
Clinical evidence of intrauterine disturbance in Prader-Willi syndrome, a genetically imprinted neurodevelopmental disorder
Françoise Muscatelli
Early Human Development, 2007
View PDFchevron_right
Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome
June-Anne Gold
Journal of medical genetics, 2018
View PDFchevron_right
Does the Genetic Cause of Prader-Willi Syndrome Explain the Highly Variable Phenotype?
Maria Puiu
Maedica, 2016
View PDFchevron_right
Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region
Joyce Whittington
Journal of Medical Genetics
View PDFchevron_right
Prader-Willi Syndrome: Genetic Tests and Clinical Findings
Cintia Fridman
Genetic Testing, 2000
View PDFchevron_right
The neonatal phenotype of Prader–Willi syndrome
Eve Õiglane-shlik
American Journal of Medical Genetics Part A, 2006
View PDFchevron_right
Changing rates of genetic subtypes of Prader–Willi syndrome in the UK
Joyce Whittington
European Journal of Human Genetics, 2007
View PDFchevron_right
Prader–Willi syndrome: clinical genetics, cytogenetics and molecular biology
Douglas Bittel
Expert Reviews in Molecular Medicine, 2005
View PDFchevron_right
Behavioral Differences Among Subjects With Prader-Willi Syndrome and Type I or Type II Deletion and Maternal Disomy
Nataliya Kibiryeva
Pediatrics, 2004
View PDFchevron_right
Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update
Merlin Butler
Current Pediatric Reviews
View PDFchevron_right
Epilepsy in Prader–Willi syndrome: Clinical characteristics and correlation to genotype
Kalpathy Krishnamoorthy
Epilepsy & Behavior, 2010
View PDFchevron_right
Is gestation in Prader-Willi syndrome affected by the genetic subtype?
June-Anne Gold
Journal of Assisted Reproduction and Genetics, 2009
View PDFchevron_right
Differences in behavioural phenotype between parental deletion and maternal uniparental disomy in Prader–Willi syndrome: an ERP study
Joyce Whittington
Clinical Neurophysiology, 2005
View PDFchevron_right
IMPRINTED GENES ON CHROMOSOME 15q11-q13 REGION ASPECTS OF PRADER WILLI SYNDROME (PWS) PHENOTYPES AND THEIR THERAPEUTICS MODELS
Padmavathi Krishnan
View PDFchevron_right
Clinical features and molecular genetic analysis of a boy with Prader‐Willi syndrome caused by an imprinting defect
Astrid Schulze
1997
View PDFchevron_right
Expression of 4 Genes Between Chromosome 15 Breakpoints 1 and 2 and Behavioral Outcomes in Prader-Willi Syndrome
Nataliya Kibiryeva
Pediatrics, 2006
View PDFchevron_right
Divergent structural brain abnormalities between different genetic subtypes of children with Prader--Willi syndrome
Tonya White
Journal of Neurodevelopmental Disorders
View PDFchevron_right
Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil
Leonardo Henrique Ferreira Gomes
Orphanet journal of rare diseases, 2024
View PDFchevron_right
Molecular diagnosis of Prader-Willi syndrome: Parent-of-origin dependent methylation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphisms
Dvorah Abeliovich
American Journal of Medical Genetics, 1994
View PDFchevron_right
Imprinting-Mutation Mechanisms in Prader-Willi Syndrome
Karin Buiting
The American Journal of Human Genetics, 1999
View PDFchevron_right
Pre-, peri- and postnatal complications in Prader–Willi syndrome in a UK sample
Joyce Whittington
Early Human Development, 2008
View PDFchevron_right
Recognizing the unique prenatal phenotype of Prader‐Willi Syndrome (PWS) indicates the need for a diagnostic methylation test
Harry Hirsch
Prenatal Diagnosis, 2020
View PDFchevron_right
Prader-Willi syndrome: is there a recognizable fetal phenotype?
Genevieve Lefort
Prenatal Diagnosis, 2008
View PDFchevron_right
Prader–Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15—case report plus review of similar cases
Thomas Liehr
European Journal of Medical Genetics, 2005
View PDFchevron_right
Prader Willi Syndrome: Phenotypic and Genotypic Characteristics
Austin Publishing Group
View PDFchevron_right
An interstitial 15q11-q14 deletion: expanded Prader-Willi syndrome phenotype
Douglas Bittel
American Journal of Medical Genetics Part a, 2010
View PDFchevron_right