(Q37201174)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27570435%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

title

Prader-Willi Syndrome: Clinical and Genetic Findings (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27570435%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

main subject

Prader–Willi syndrome

1 reference

Merlin G Butler

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27570435%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Travis Thompson

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27570435%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

language of work or name

1 reference

1 July 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27570435%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27570435%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

volume

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27570435%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

issue

4 Suppl 1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27570435%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

page(s)

3S-16S

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27570435%20AND%20SRC:MED&resulttype=core&format=json

RESTING METABOLIC RATE IN PRADER-WILLI SYNDROME

21 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Visual capacity and Prader-Willi syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

The impact of genomic imprinting for neurobehavioral and developmental disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

A 68-year-old white female with Prader-Willi syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Genetic abnormalities in Prader-Willi syndrome and lessons from mouse models.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Concerted regulation and molecular evolution of the duplicated SNRPB'/B and SNRPN loci

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Towards a molecular understanding of Prader-Willi and Angelman syndromes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Self-injurious behavior and Prader-Willi syndrome: behavioral forms and body locations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

An imprinted, mammalian bicistronic transcript encodes two independent proteins

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Imprinting-mutation mechanisms in Prader-Willi syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Prader-Willi syndrome is caused by disruption of the SNRPN gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Methylation PCR analysis of Prader-Willi syndrome, Angelman syndrome, and control subjects

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Prader-Willi syndrome: consensus diagnostic criteria.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Bloom syndrome and maternal uniparental disomy for chromosome 15.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Diagnosis in Prader-Willi syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Dermatoglyphic features in Prader-Willi syndrome with respect to chromosomal findings.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

The Prader-Willi syndrome: a study of 40 patients and a review of the literature

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

An anthropometric study of 38 individuals with Prader-Labhart-Willi syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Analysis of chromosome breakage in the Prader-Labhart-Willi syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Prader-Willi syndrome: current understanding of cause and diagnosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Nonreciprocal and jumping translocations of 15q1----qter in Prader-Willi syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Prader-Willi and Angelman syndromes. Disorders of genomic imprinting

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Prader-Willi syndrome: are there population differences?

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Abnormalities of the central visual pathways in Prader-Willi syndrome associated with hypopigmentation.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Emotional symptoms in Prader-Willi syndrome adolescents.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

The developing role of anthropologists in medical genetics: anthropometric assessment of the Prader-Labhart-Willi syndrome as an illustration

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Prader-Willi syndrome in New Zealand: a survey of 36 affected people.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Anthropometric study with emphasis on hand and foot measurements in the Prader-Willi syndrome: sex, age and chromosome effects.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Diagnostic dilemma caused by overlapping features of Prader-Willi syndrome and trisomy 18 during infancy.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Cerebrospinal fluid levels of oxytocin in Prader-Willi syndrome: a preliminary report.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Imprinting in Prader-Willi and Angelman syndromes

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Obsessions and compulsions in Prader-Willi syndrome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

A male with a de novo translocation involving loss of 15q11q13 material and Prader-Willi syndrome

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

Self-injurious behavior and serotonin in Prader-Willi syndrome

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4996620

The latent variable structure of the Compulsive Behaviour Checklist in people with Prader-Willi syndrome

3 September 2018

1 reference

12 December 2020

Development and validation of a measurement system for assessment of energy expenditure and physical activity in Prader-Willi syndrome

1 reference

12 December 2020

'A woman with Prader-Willi syndrome gives birth to a healthy baby girl'

1 reference

12 December 2020

Third Prader-Willi syndrome phenotype due to maternal uniparental disomy 15 with mosaic trisomy 15

1 reference

12 December 2020

Analysis of imprinted genes in subjects with Prader-Willi syndrome and chromosome 15 abnormalities

1 reference

12 December 2020

Phenotypic differerencss in African Americans with Prader-Willi syndrome

1 reference

12 December 2020

Deletion of chromosome 15pter-->q11.2 due to t(Y;15) in a boy with Prader-Willi syndrome

1 reference

12 December 2020

Standards for selected anthropometric measurements in Prader-Willi syndrome

1 reference

12 December 2020

Hand and foot length in Prader-Willi syndrome

1 reference

12 December 2020

Prader-Willi Syndrome: Genetics and Behavior

1 reference

12 December 2020

Characterization of Obesity in the Prader-Labhart-Willi Syndrome: Fatness Patterning

1 reference

12 December 2020

Visual evoked potentials in Prader-Willi syndrome

1 reference

12 December 2020

The use of skinfold measurements to judge obesity during the early phase of Prader-Labhart-Willi syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Prader-Willi syndrome

1 reference

12 December 2020

Metacarpophalangeal pattern profile analysis in Prader-Willi syndrome

1 reference

12 December 2020

True telomeric translocation in a baby with the Prader-Willi phenotype

1 reference

12 December 2020

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

1 reference

12 December 2020

Derivative Y chromosome resulting from a t(Y;15) (q12;q11.2) in a boy with Prader-Willi syndrome

1 reference

12 December 2020

Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Overweight and obesity in the United States: prevalence and trends, 1960-1994

1 reference

12 December 2020

Clinical management of a rare de novo translocation 46,X,t(Y;15) (p11.2 approximately 11.3;q11.2).ish t(Y;15)(DYZ3+,AMELY+,SNRPN+;D15Z+) found prenatally

1 reference

12 December 2020

Relaxation of imprinting in Prader-Willi syndrome

1 reference

12 December 2020

Growth hormone improves body composition, fat utilization, physical strength and agility, and growth in Prader-Willi syndrome: A controlled study

1 reference

12 December 2020

10.1097/00019616-200010041-00002

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27570435%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27570435%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

PubMed publication ID

27570435

1 reference