(Q34796000)

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

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

1 reference

based on heuristic

inferred from title

author name string

Smith A

1

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Prasad M

2

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Deng ZM

3

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Robson L

4

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Woodage T

5

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Trent RJ

6

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

language of work or name

0 references

publication date

1 May 1995

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Archives of Disease in Childhood

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

72

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

397-402

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Fluorescence in-situ hybridisation and molecular studies used in the characterisation of a Robertsonian translocation (13q15q) 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=1511093

8 July 2018

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=1511093

8 July 2018

A fluorescence in situ hybridization map of human chromosome 21 consisting of 30 genetic and physical markers on the chromosome: localization of 137 additional YAC and cosmid clones with respect to this map.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511093

8 July 2018

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=1511093

8 July 2018

Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511093

8 July 2018

Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511093

8 July 2018

Linkage analysis in familial Angelman syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511093

8 July 2018

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=1511093

8 July 2018

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=1511093

8 July 2018

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=1511093

8 July 2018

Molecular mechanisms in Angelman syndrome: a survey of 93 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511093

8 July 2018

Diagnosis 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=1511093

8 July 2018

A girl with the Prader-Willi syndrome and Robertsonian translocation 45,XX,t(14;15)(p11;q11) which was present in three normal family members

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511093

8 July 2018

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=1511093

8 July 2018

Proximal duplications of chromosome 15: clinical dilemmas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511093

8 July 2018

Is Angelman syndrome an alternate result of del(15)(q11q13)?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511093

8 July 2018

Proximal 15q variant with normal phenotype in three unrelated individuals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511093

8 July 2018

Detection of chromosome aberrations in metaphase and interphase tumor cells by in situ hybridization using chromosome-specific library probes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511093

8 July 2018

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=1511093

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511093

8 July 2018

Proximal 15q variant as possible pitfall in the cytogenetic diagnosis of Prader-Willi syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511093

8 July 2018

Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511093

8 July 2018

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=1511093

8 July 2018

Fluorescence in situ hybridization: applications in cytogenetics and gene mapping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511093

8 July 2018

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=1511093

8 July 2018

Molecular and cytogenetic studies 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=1511093

8 July 2018

Uniparental paternal disomy in Angelman's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511093

8 July 2018

Angelman syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511093

8 July 2018

High Resolution of Human Chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511093

8 July 2018

Novel patterns of inheritance of genetic disease are illustrated by the Angelman syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7618904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical correlates of chromosome 15 deletions and maternal disomy in Prader-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7618904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7618904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular diagnosis of Prader-Willi syndrome: parent-of-origin dependent methylation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphisms

1 reference

https://pubmed.ncbi.nlm.nih.gov/7618904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A variety of genetic mechanisms are associated with the Prader-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7618904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Double synchronization of human lymphocyte cultures: selection for high-resolution banded metaphases in the first and second division

1 reference

https://pubmed.ncbi.nlm.nih.gov/7618904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Replication asynchrony between homologs 15q11.2: cytogenetic evidence for genomic imprinting

1 reference

https://pubmed.ncbi.nlm.nih.gov/7618904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13

1 reference

https://pubmed.ncbi.nlm.nih.gov/7618904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/ADC.72.5.397

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

ResearchGate publication ID

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