Prader-Willi syndrome. (Q51886650)

16 April 2018

title

Prader-Willi syndrome. (English)

1 reference

16 April 2018

author name string

Suzanne B Cassidy

series ordinal

1

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16 April 2018

Daniel J Driscoll

series ordinal

2

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16 April 2018

publication date

10 September 2008

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16 April 2018

European Journal of Human Genetics

published in

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16 April 2018

volume

17

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16 April 2018

issue

1

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16 April 2018

page(s)

3-13

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16 April 2018

https://scigraph.springernature.com/pub.10.1038/ejhg.2008.165

exact match

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice

22 May 2018

1 reference

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Assessment of sleep and breathing in adults with prader-willi syndrome: a case control series

22 May 2018

1 reference

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Gastric rupture and necrosis in Prader-Willi syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Mortality in Prader-Willi syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Autism spectrum disorders in Prader-Willi and Angelman syndromes: a systematic review

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Prader-Willi syndrome: advances in genetics, pathophysiology and treatment

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Hypogonadism and pubertal development in Prader-Willi syndrome.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Psychiatric disorders in Prader-Willi syndrome: epidemiology and management

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Sleep and breathing in Prader-Willi syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Prader-Willi syndrome, compulsive and ritualistic behaviours: the first population-based survey

22 May 2018

1 reference

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Obsessive-compulsive symptoms in Prader-Willi and "Prader-Willi-Like" patients.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

The mechanisms involved in formation of deletions and duplications of 15q11-q13.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Methylation-specific PCR simplifies imprinting analysis.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Prader-Willi syndrome: consensus diagnostic criteria.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Parental origin of chromosome 15 deletion in Prader-Willi syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Characteristics of abnormal food-intake patterns in children with Prader-Willi syndrome and study of effects of naloxone

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Hypopigmentation: a common feature of Prader-Labhart-Willi syndrome.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Profiles, correlates, and trajectories of intelligence in Prader-Willi syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Prader-Willi syndrome: a review with special attention to the cognitive and behavioral profile

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Growth hormone treatment of adults with Prader-Willi syndrome and growth hormone deficiency improves lean body mass, fractional body fat, and serum triiodothyronine without glucose impairment: results from the United States multicenter trial

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Short-term effects of growth hormone on sleep abnormalities in Prader-Willi syndrome.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

High incidence of hip dysplasia but not slipped capital femoral epiphysis in patients with Prader-Willi syndrome.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Psychotic disorders in Prader-Willi syndrome.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Prader-Willi syndrome--a study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Prader-Willi syndrome: causes of death in an international series of 27 cases.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Behavioural and emotional disturbances in people with Prader-Willi Syndrome.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Behavioural phenotypes associated with specific genetic disorders: evidence from a population-based study of people with Prader-Willi syndrome.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Prevalence of, and risk factors for, physical ill-health in people with Prader-Willi syndrome: a population-based study.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Phenotypic heterogeneity of growth and psychometric intelligence in Prader-Willi syndrome: variable expression of a contiguous gene syndrome or parent-child resemblance?

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Correlates of maladaptive behavior in children and adults with Prader-Willi syndrome.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Maladaptive behaviour in Prader-Willi syndrome in adult life

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

Alterations in the hypothalamic paraventricular nucleus and its oxytocin neurons (putative satiety cells) in Prader-Willi syndrome: a study of five cases.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985966

The Italian National Survey for Prader–Willi syndrome: An epidemiologic study

13 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2008.165

Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15

21 January 2018

1 reference

12 December 2020

Salivary abnormalities in Prader-Willi syndrome

1 reference

12 December 2020

The neonatal presentation of Prader-Willi syndrome revisited

1 reference

12 December 2020

ADHD symptoms and insistence on sameness in Prader-Willi syndrome

1 reference

12 December 2020

Somatropin therapy for children with prader-willi syndrome : guidelines for use

1 reference

12 December 2020

Deaths due to choking in Prader-Willi syndrome

1 reference

12 December 2020

Five-years growth hormone (GH) treatment in adults with Prader-Willi syndrome

1 reference

12 December 2020

Final adult height in children with Prader-Willi syndrome with and without human growth hormone treatment

1 reference

12 December 2020

Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals

1 reference

12 December 2020

Maladaptive and compulsive behavior in Prader-Willi syndrome: new insights from older adults

1 reference

12 December 2020

Food and children with Prader-Willi syndrome

1 reference

12 December 2020

Standards for selected anthropometric measurements in Prader-Willi syndrome

1 reference

12 December 2020

A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes

1 reference

12 December 2020

Measurement of excessive appetite and metabolic changes in Prader-Willi syndrome

1 reference

12 December 2020

Characteristics of the eating disorder in Prader-Willi syndrome: implications for treatment

1 reference

12 December 2020

The third factor of the WISC-III: it's (probably) not freedom from distractibility.

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2008.165

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/EJHG.2008.165

1 reference

16 April 2018

PMCID

2985966

1 reference

16 April 2018

PubMed ID

18781185

1 reference

16 April 2018