(Q24517941)

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Prader-Willi syndrome

scientific article

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scholarly article

1 reference

Europe PubMed Central

2 July 2017

1 reference

Europe PubMed Central

Prader-Willi syndrome (English)

1 reference

Europe PubMed Central

2 July 2017

maternal health

0 references

author name string

Cassidy SB

1

1 reference

Europe PubMed Central

2 July 2017

language of work or name

0 references

publication date

1 November 1997

1 reference

Europe PubMed Central

2 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

2 July 2017

34

1 reference

Europe PubMed Central

2 July 2017

917-923

1 reference

Europe PubMed Central

2 July 2017

11

1 reference

Europe PubMed Central

2 July 2017

UBE3A/E6-AP mutations cause Angelman syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

19 March 2017

Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

19 March 2017

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

19 March 2017

Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

19 March 2017

Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

27 September 2017

Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

27 September 2017

Prader-Willi syndrome: consensus diagnostic criteria.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

27 September 2017

Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

27 September 2017

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

27 September 2017

Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and Angelman syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

27 September 2017

Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

27 September 2017

DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

27 September 2017

Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

27 September 2017

Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

27 September 2017

Hypopigmentation in the Prader-Willi syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

27 September 2017

Prader-Willi syndrome: current understanding of cause and diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

27 September 2017

Physical features of Prader-Willi syndrome in neonates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

27 September 2017

Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

27 September 2017

Differentiated recurrence risk estimations in the Prader-Willi syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

27 September 2017

Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

27 September 2017

Prader-Willi and other syndromes associated with obesity and mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

30 May 2018

Methylation-specific PCR simplifies imprinting analysis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

30 May 2018

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

30 May 2018

Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

30 May 2018

Growth hormone secretion and effects of growth hormone therapy on growth velocity and weight gain in children with Prader-Willi syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

30 May 2018

Prevalence study of Prader-Willi syndrome in North Dakota

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

30 May 2018

Angelman syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

30 May 2018

The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

29 November 2018

Uniparental disomy 15 resulting from "correction" of an initial trisomy 15.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051120

29 November 2018

Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood

1 reference

https://pubmed.ncbi.nlm.nih.gov/9391886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9391886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9391886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele

1 reference

https://pubmed.ncbi.nlm.nih.gov/9391886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15

1 reference

https://pubmed.ncbi.nlm.nih.gov/9391886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Food and children with Prader-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9391886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prader-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9391886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adults with Prader-Willi syndrome: a survey of 232 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/9391886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional imprinting and epigenetic modification of the human SNRPN gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9391886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Developmental trends of sleep-disordered breathing in Prader-Willi syndrome: the role of obesity

1 reference

https://pubmed.ncbi.nlm.nih.gov/9391886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9391886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Energy expenditure and body composition in Prader-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9391886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hand and foot length in Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1136%2FJMG.34.11.917

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q

1 reference

https://api.crossref.org/works/10.1136%2FJMG.34.11.917

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1136/JMG.34.11.917

1 reference

Europe PubMed Central

2 July 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Europe PubMed Central

2 July 2017

ResearchGate publication ID

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