(Q44877996)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11078565%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome with biparental methylation (English)

1 reference

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2 November 2019

1 reference

1

1 reference

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2 November 2019

author name string

C Jackson-Cook

2

1 reference

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2 November 2019

A Buller

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11078565%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

A Ferreira-Gonzalez

4

1 reference

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2 November 2019

A Pandya

5

1 reference

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2 November 2019

C T Garrett

6

1 reference

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2 November 2019

J Bodurtha

7

1 reference

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2 November 2019

language of work or name

1 reference

1 November 2000

1 reference

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American Journal of Medical Genetics Part A

2 November 2019

published in

1 reference

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2 November 2019

volume

95

1 reference

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2 November 2019

issue

2

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2 November 2019

page(s)

145-149

1 reference

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Prader-Willi and Angelman syndromes. Disorders of genomic imprinting

2 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C145%3A%3AAID-AJMG10%3E3.0.CO%3B2-R

High sensitivity mapping of methylated cytosines

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C145%3A%3AAID-AJMG10%3E3.0.CO%3B2-R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C145%3A%3AAID-AJMG10%3E3.0.CO%3B2-R

The spectrum of mutations in UBE3A causing Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C145%3A%3AAID-AJMG10%3E3.0.CO%3B2-R

Mosaicism for deletion 17p11.2 in a boy with the Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C145%3A%3AAID-AJMG10%3E3.0.CO%3B2-R

N-Sulfomethylation of guanine, adenine and cytosine with formaldehyde-bisulfite. A selective modification of guanine in DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C145%3A%3AAID-AJMG10%3E3.0.CO%3B2-R

Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C145%3A%3AAID-AJMG10%3E3.0.CO%3B2-R

Genetics of Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C145%3A%3AAID-AJMG10%3E3.0.CO%3B2-R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C145%3A%3AAID-AJMG10%3E3.0.CO%3B2-R

Meiotic recombination hotspots.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C145%3A%3AAID-AJMG10%3E3.0.CO%3B2-R

Absence of predictable phenotypic expression in proximal 15q duplications

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C145%3A%3AAID-AJMG10%3E3.0.CO%3B2-R

Mutation analysis of UBE3A in Angelman syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C145%3A%3AAID-AJMG10%3E3.0.CO%3B2-R

Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C145%3A%3AAID-AJMG10%3E3.0.CO%3B2-R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C145%3A%3AAID-AJMG10%3E3.0.CO%3B2-R

Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C145%3A%3AAID-AJMG10%3E3.0.CO%3B2-R

Deletion of chromosome 15 (q11-13) in a Prader-Labhart-Willi syndrome clinic population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C145%3A%3AAID-AJMG10%3E3.0.CO%3B2-R

Association of a mosaic chromosomal 22q 11 deletion with hypoplastic left heart syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C145%3A%3AAID-AJMG10%3E3.0.CO%3B2-R

Mosaicism in Prader-Willi syndrome: detection using fluorescent in situ hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C145%3A%3AAID-AJMG10%3E3.0.CO%3B2-R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C145%3A%3AAID-AJMG10%3E3.0.CO%3B2-R

Mosaicism in Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C145%3A%3AAID-AJMG10%3E3.0.CO%3B2-R

The evaluation of 15q proximal duplications by FISH

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C145%3A%3AAID-AJMG10%3E3.0.CO%3B2-R

DNA Methylation and the Control of Gene Expression on the Human X Chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C145%3A%3AAID-AJMG10%3E3.0.CO%3B2-R

10.1002/1096-8628(20001113)95:2<145::AID-AJMG10>3.0.CO;2-R

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11078565%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference