Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome. (Q35248915)

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5 November 2019

title

Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome (English)

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8

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5 November 2019

author name string

Bürger J

1

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5 November 2019

Buiting K

2

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5 November 2019

Dittrich B

3

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5 November 2019

Gross S

4

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5 November 2019

Lich C

5

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5 November 2019

Sperling K

6

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5 November 2019

Horsthemke B

7

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5 November 2019

language of work or name

English

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publication date

1 July 1997

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American Journal of Human Genetics

5 November 2019

published in

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5 November 2019

volume

61

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5 November 2019

issue

1

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page(s)

88-93

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

5 November 2019

cites work

1 reference

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

27 July 2018

1 reference

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715864

UBE3A/E6-AP mutations cause Angelman syndrome

27 July 2018

1 reference

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Phenotypic differences in Angelman syndrome patients: imprinting mutations show less frequently microcephaly and hypopigmentation than deletions

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715864

Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

27 July 2018

1 reference

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

27 July 2018

1 reference

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

27 July 2018

1 reference

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Linkage analysis in familial Angelman syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715864

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715864

Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region

27 July 2018

1 reference

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715864

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715864

Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation

27 July 2018

1 reference

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The 1993-94 Généthon human genetic linkage map

27 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715864

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715864

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715864

Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715864

The inheritance of epigenetic defects

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715864

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715864

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715864

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715864

Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715864

Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H19 domain.

27 July 2018

1 reference

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Allele-specific expression and total expression levels of imprinted genes during early mouse development: implications for imprinting mechanisms

26 September 2018

1 reference

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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.

26 September 2018

1 reference

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Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients

26 September 2018

1 reference

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Homologous association of oppositely imprinted chromosomal domains

26 September 2018

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12 December 2020

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

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12 December 2020

Interchromosomal Transfer of Epigenetic States in Ascobolus: Transfer of DNA Methylation Is Mechanistically Related to Homologous Recombination

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12 December 2020

Imprinting moves to the centre

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12 December 2020

Identifiers

DOI

10.1086/513900

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9245988 AND SRC:MED&resulttype=core&format=json

release_hqn3m3odmrhr5leh3ycseyrbo4

5 November 2019

Fatcat ID

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Fatcat

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24 November 2022

mapped directly with Wikidata item

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9245988 AND SRC:MED&resulttype=core&format=json

5 November 2019

PubMed publication ID

9245988

1 reference