Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches. (Q38642369)

5 September 2017

Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6742515&resulttype=core&format=json

12 May 2020

main subject

maternal health

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Prader–Willi syndrome

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2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6742515&resulttype=core&format=json

12 May 2020

author name string

Merlin G Butler

series ordinal

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6742515&resulttype=core&format=json

12 May 2020

Janice L Forster

series ordinal

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6742515&resulttype=core&format=json

12 May 2020

publication date

22 November 2015

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Current Pediatric Reviews

5 September 2017

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6742515&resulttype=core&format=json

12 May 2020

volume

12

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6742515&resulttype=core&format=json

12 May 2020

page(s)

136-166

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6742515&resulttype=core&format=json

12 May 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6742515&resulttype=core&format=json

Intellectual characteristics of Prader-Willi syndrome: comparison of genetic subtypes.

12 May 2020

cites work

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12 December 2020

Specific genetic diseases at risk for sedation/anesthesia complications.

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12 December 2020

The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria

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12 December 2020

Decreased bone mineral density in Prader-Willi syndrome: comparison with obese subjects

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12 December 2020

Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy.

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12 December 2020

Are jigsaw puzzle skills 'spared' in persons with Prader-Willi syndrome?

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12 December 2020

Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect

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12 December 2020

Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy

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12 December 2020

Cognitive abilities and genotype in a population-based sample of people with Prader-Willi syndrome

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12 December 2020

Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy

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12 December 2020

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

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12 December 2020

Neural mechanisms underlying hyperphagia in Prader-Willi syndrome

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12 December 2020

Deaths due to choking in Prader-Willi syndrome

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12 December 2020

X-chromosome inactivation patterns in females with Prader-Willi syndrome.

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12 December 2020

Management of obesity in Prader-Willi syndrome

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12 December 2020

The course and outcome of psychiatric illness in people with Prader-Willi syndrome: implications for management and treatment.

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12 December 2020

Thyroid function studies in Prader-Willi syndrome

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12 December 2020

The relationship between compulsive behaviour and academic achievement across the three genetic subtypes of Prader-Willi syndrome.

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12 December 2020

Gastric rupture and necrosis in Prader-Willi syndrome

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12 December 2020

The phenomenology and diagnosis of psychiatric illness in people with Prader-Willi syndrome.

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12 December 2020

Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome.

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12 December 2020

Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities

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12 December 2020

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

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12 December 2020

Recommendations for the diagnosis and management of Prader-Willi syndrome

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12 December 2020

Analysis of the Prader-Willi syndrome chromosome region using quantitative microsphere hybridization (QMH) array.

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12 December 2020

Is gestation in Prader-Willi syndrome affected by the genetic subtype?

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12 December 2020

Efficacy and safety of long-term continuous growth hormone treatment in children with Prader-Willi syndrome

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12 December 2020

Genomic imprinting disorders in humans: a mini-review

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12 December 2020

Clinical report—health supervision for children with Prader-Willi syndrome

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12 December 2020

Growth standards of infants with Prader-Willi syndrome

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12 December 2020

Nutritional phases in Prader-Willi syndrome.

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12 December 2020

UPD detection using homozygosity profiling with a SNP genotyping microarray

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12 December 2020

Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome

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12 December 2020

Molecular basis of obesity: current status and future prospects

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12 December 2020

Genetics of Obesity: What have we Learned?

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12 December 2020

Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature

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12 December 2020

Prader-Willi Syndrome: Obesity due to Genomic Imprinting

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12 December 2020

Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes

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12 December 2020

Effects of recombinant human growth hormone therapy in adults with Prader-Willi syndrome: a meta-analysis

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12 December 2020

Prader-Willi syndrome.

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12 December 2020

Beneficial effects of growth hormone treatment on cognition in children with Prader-Willi syndrome: a randomized controlled trial and longitudinal study

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12 December 2020

Prader-Willi syndrome: current understanding of cause and diagnosis

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12 December 2020

GrowthHormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome

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12 December 2020

Frequency of Prader-Willi syndrome in births conceived via assisted reproductive technology

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12 December 2020

Endocrine manifestations and management of Prader-Willi syndrome

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12 December 2020

An open-label pilot study of N-acetylcysteine for skin-picking in Prader-Willi syndrome

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12 December 2020

Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders

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12 December 2020

Reactivation of maternal SNORD116 cluster via SETDB1 knockdown in Prader-Willi syndrome iPSCs

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12 December 2020

Growth charts for non-growth hormone treated Prader-Willi syndrome

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12 December 2020

Clinically relevant known and candidate genes for obesity and their overlap with human infertility and reproduction

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12 December 2020

Coding and noncoding expression patterns associated with rare obesity-related disorders: Prader-Willi and Alström syndromes.

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12 December 2020

Pharmacogenetics informed decision making in adolescent psychiatric treatment: a clinical case report

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12 December 2020

Psychiatric disorders in children with Prader-Willi syndrome-Results of a 2-year longitudinal study

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12 December 2020

Metabolic profiling in Prader-Willi syndrome and nonsyndromic obesity: sex differences and the role of growth hormone

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12 December 2020

High plasma neurotensin levels in children with Prader-Willi syndrome.

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12 December 2020

Obesity management in Prader-Willi syndrome

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12 December 2020

Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings

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12 December 2020

Prader-Willi syndrome: From genetics to behaviour, with special focus on appetite treatments

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12 December 2020

Elevated plasma oxytocin levels in children with Prader-Willi syndrome compared with healthy unrelated siblings.

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12 December 2020

Growth Charts for Prader-Willi Syndrome During Growth Hormone Treatment.

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12 December 2020

Prader-Willi Syndrome: Clinical and Genetic Findings

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12 December 2020

EVALUATION OF PLASMA SUBSTANCE P AND BETA-ENDORPHIN LEVELS IN CHILDREN WITH PRADER-WILLI SYNDROME.

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12 December 2020

Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

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12 December 2020

Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome

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12 December 2020

Parental origin of chromosome 15 deletion in Prader-Willi syndrome

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12 December 2020

Prader-Willi syndrome: are there population differences?

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12 December 2020

Deletions of chromosome 15 as a cause of the Prader-Willi syndrome

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12 December 2020

Prader-Willi syndrome: consensus diagnostic criteria.

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12 December 2020

Molecular diagnosis of Prader-Willi syndrome: comparison of cytogenetic and molecular genetic data including parent of origin dependent methylation DNA patterns.

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12 December 2020

A 5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion of chromosome 15q11q13.

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12 December 2020

A mouse model for Prader-Willi syndrome imprinting-centre mutations

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12 December 2020

Imprinting-mutation mechanisms in Prader-Willi syndrome

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12 December 2020

10.2174/1573396312666151123115250

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6742515&resulttype=core&format=json

12 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6742515&resulttype=core&format=json

12 May 2020

1 reference