(Q72258805)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7759079%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

title

DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63) (English)

1 reference

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25 October 2019

author name string

A M van den Ouweland

1

1 reference

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25 October 2019

M N van der Est

2

1 reference

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25 October 2019

E Wesby-van Swaay

3

1 reference

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25 October 2019

T S Tijmensen

4

1 reference

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25 October 2019

F J Los

5

1 reference

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25 October 2019

J O Van Hemel

6

1 reference

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25 October 2019

R C Hennekam

7

1 reference

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25 October 2019

H J Meijers-Heijboer

8

1 reference

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25 October 2019

M F Niermeijer

9

1 reference

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25 October 2019

D J Halley

10

1 reference

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25 October 2019

publication date

1 May 1995

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25 October 2019

1 reference

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25 October 2019

volume

95

1 reference

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25 October 2019

issue

5

1 reference

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25 October 2019

page(s)

562-567

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf00223870

25 October 2019

exact match

0 references

cites work

Mental status and fragile X expression in relation to FMR-1 gene mutation.

1 reference

12 December 2020

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

1 reference

12 December 2020

1 reference

12 December 2020

Genomic imprinting in an Angelman and Prader-Willi translocation family

1 reference

12 December 2020

A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes

1 reference

12 December 2020

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

1 reference

12 December 2020

Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome

1 reference

12 December 2020

Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene

1 reference

12 December 2020

Functional imprinting and epigenetic modification of the human SNRPN gene

1 reference

12 December 2020

Rapid subchromosomal localization of cosmids by nonradioactive in situ hybridization

1 reference

12 December 2020

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

12 December 2020

Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient.

1 reference

12 December 2020

Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence

1 reference

12 December 2020

Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome

1 reference

12 December 2020

Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13.

1 reference

12 December 2020

Molecular study of chromosome 15 in 22 patients with Angelman syndrome

1 reference

12 December 2020

Molecular mechanisms in Angelman syndrome: a survey of 93 patients

1 reference

12 December 2020

DNA methylation represses FMR-1 transcription in fragile X syndrome

1 reference

12 December 2020

Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region

1 reference

12 December 2020

Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review

1 reference

12 December 2020

A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression

1 reference

12 December 2020

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis

1 reference

12 December 2020

Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications

1 reference

12 December 2020

A Dral RFLP detected for probe pIR4–3R [D15S11] on chromosome 15q

1 reference

12 December 2020

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

1 reference

12 December 2020

Exclusion of the GABAA-receptor beta 3 subunit gene as the Angelman's syndrome gene

1 reference

12 December 2020

Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00223870

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7759079%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

1 reference