Epigenetic approach of Prader-Willi syndrome diagnosis in (original) (raw)

Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes

Simon Tobi

European Journal of Human Genetics, 2011

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Prader-Willi Syndrome after age 15 years

Andre Brito

Archives of Disease in Childhood, 1981

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Prader-Willi syndrome: Methylation study or fluorescence in situ hybridization first?

Sellama Nadifi

Indian Journal of Human Genetics, 2010

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Prader–Willi syndrome: clinical problems in transition from pediatric to adult care

antonino crinò

Research and Reports in Endocrine Disorders, 2016

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DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63)

Frans Los

Human Genetics, 1995

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Prader-Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization

Mathew Moore

Clinical Genetics, 2004

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Correlation of Clinical, Genetic and Epigenetic Aspects Implicated in the Etiology of Prader Willi/Angelman Syndromes

Dorica Dan

Bulletin of University of Agricultural Sciences and Veterinary Medicine Cluj-Napoca. Veterinary Medicine, 2008

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Epigenetic approach of Prader-Willi syndrome diagnosis in Romanian population

Maria Puiu

Romanian Biotechnological Letters

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Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation

Laura Guazzarotti

Frontiers in endocrinology, 2024

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Nutritional phases in Prader-Willi syndrome

christy lynn

American Journal of Medical Genetics Part A, 2011

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Birth Seasonality in Prader-Willi Syndrome

Merlin Butler

The Lancet, 1985

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Epigenetic approach for the development of the molecular testing of the DNA defects associated with Prader Willi syndrome diagnosis

Natalia Cucu

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Metabolic syndrome in adult patients with Prader–Willi syndrome

Giorgio Bedogni

Nutrition, Metabolism and Cardiovascular Diseases, 2013

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Does the Genetic Cause of Prader-Willi Syndrome Explain the Highly Variable Phenotype?

Maria Puiu

Maedica, 2016

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Prader-Willi Syndrome and diagnostic protocols: a preliminary study in Romania

Maria Puiu, Anca Botezatu, Natalia Cucu

Revista Romana de Medicina de Laborator

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Prader–Willi Syndrome, from Molecular Testing and Clinical Study to Diagnostic Protocols

Maria Puiu, Natalia Cucu

Advances in the Study of Genetic Disorders, 2011

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Prader-Willi Syndrome: Genetic Tests and Clinical Findings

Cintia Fridman

Genetic Testing, 2000

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Next Steps in Prader-Willi Syndrome Research: On the Relationship between Genotype and Phenotype

Joyce Whittington

International Journal of Molecular Sciences, 2022

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Epigenética y los espacios arquitectónicos

Kateri Samantha Hernandez Perez

Universidad Pedagógica y Tecnológica de Colombia, 2015

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Special Issue: Genetics of Prader–Willi Syndrome

David E Godler

Genes

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Comparative molecular approaches in Prader–Willi syndrome diagnosis

Adriana Plesa

Gene, 2016

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Investigation of Prader-Willi-like Phenotype using a Whole Genome Array

Esther Njoki Mwangi Maina

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Prader–Willi syndrome: clinical genetics, cytogenetics and molecular biology

Douglas Bittel

Expert Reviews in Molecular Medicine, 2005

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Prader-Willi Syndrome and diagnostic protocols: a preliminary study in Romania Sindromul Prader-Willi si protocoale de diagnostic: studiu preliminar in Romania

Dorica Dan

2010

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Genomics and epigenomics

Chiara Pirazzini

The Journal of Headache and Pain, 2015

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Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update

Merlin Butler

Current Pediatric Reviews

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Prader-Willi Syndrome: clinical case report

João Brancher

2014

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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

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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

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Chromosomal Microarray Study in Prader-Willi Syndrome

Merlin Butler

International Journal of Molecular Sciences

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[Diagnosis of genetic disorders. The first pediatric genomics center of Canada]

Kathleen Couillard

Perspective infirmière : revue officielle de l'Ordre des infirmières et infirmiers du Québec

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Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndrome

Steven Ringer

American Journal of Medical Genetics, 1989

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