(Q73184235)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11076053%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counseling (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11076053%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

main subject

Prader–Willi syndrome

1 reference

K Buiting

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11076053%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

C Färber

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11076053%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

P Kroisel

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11076053%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

K Wagner

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11076053%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

L Brueton

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11076053%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

M E Robertson

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11076053%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

C Lich

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11076053%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

B Horsthemke

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11076053%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

publication date

1 October 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11076053%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11076053%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

volume

58

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11076053%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11076053%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

page(s)

284-290

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11076053%20AND%20SRC:MED&resulttype=core&format=json

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

2 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580406.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580406.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580406.X

7 January 2021

Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580406.X

7 January 2021

Imprinting-mutation mechanisms in Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580406.X

7 January 2021

Angelman syndrome: how many genes to remain silent?

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580406.X

7 January 2021

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580406.X

7 January 2021

A 28-kb deletion spanning D15S63 (PW71) in five families: a rare neutral variant?

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580406.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580406.X

7 January 2021

10.1034/J.1399-0004.2000.580406.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11076053%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference