(Q33575404)

28 July 2017

title

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes (English)

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28 July 2017

4

Karin Buiting

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author name string

Simon C Ramsden

series ordinal

1

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28 July 2017

Jill Clayton-Smith

series ordinal

2

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28 July 2017

Rachael Birch

series ordinal

3

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28 July 2017

publication date

11 May 2010

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28 July 2017

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28 July 2017

volume

11

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28 July 2017

page(s)

70

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https://scigraph.springernature.com/pub.10.1186/1471-2350-11-70

28 July 2017

exact match

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cites work

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SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

21 June 2018

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Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

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CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.

21 June 2018

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21 June 2018

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21 June 2018

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A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome.

21 June 2018

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Disruption of the bipartite imprinting center in a family with Angelman syndrome

21 June 2018

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A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect

21 June 2018

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

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21 June 2018

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

21 June 2018

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UBE3A/E6-AP mutations cause Angelman syndrome

21 June 2018

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

21 June 2018

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Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.

21 June 2018

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21 June 2018

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

21 June 2018

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

21 June 2018

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21 June 2018

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The 1993-94 Généthon human genetic linkage map

21 June 2018

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Dinucleotide repeat polymorphism of D15S10 in the Prader-Willi chromosome region (PWCR)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877670

Dinucleotide repeat polymorphism at the GABAA receptor alpha 5 (GABRA5) locus at chromosome 15q11-q13.

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877670

Dinucleotide repeat polymorphism at the GABAA receptor beta 3 (GABRB3) locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877670

Angelman syndrome 2005: updated consensus for diagnostic criteria.

21 June 2018

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https://api.crossref.org/works/10.1186%2F1471-2350-11-70

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-70

Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-70

A linkage map of human chromosome 15 with an average resolution of 2 cM and containing 55 polymorphic microsatellites

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-70

Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877670

Identification of mosaicism in Prader-Willi syndrome using fluorescent in situ hybridization

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877670

Methylation-Sensitive High-Resolution Melting-Curve Analysis of the SNRPN Gene as a Diagnostic Screen for Prader-Willi and Angelman Syndromes

31 October 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-70

Mosaicism in Prader-Willi syndrome

21 January 2018

1 reference

12 December 2020

A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus

1 reference

12 December 2020

Atypical molecular findings identify limits of technical screening tests for Prader-Willi and Angelman syndrome diagnoses

1 reference

12 December 2020

Potential pitfall in Prader-Willi syndrome and Angelman syndrome molecular diagnosis

1 reference

12 December 2020

Problems in detecting mosaic DNA methylation in Angelman syndrome

1 reference

12 December 2020

Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprintedDLK1/GTL2gene cluster

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-11-70

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Dimensions Publication ID

28 July 2017

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1 reference

28 July 2017

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