(Q73288115)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12702163%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

Molecular characterization of a unique de novo 15q deletion associated with Prader-Willi syndrome and central visual impairment (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12702163%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

main subject

Prader–Willi syndrome

1 reference

1 reference

C Windpassinger

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12702163%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

E Petek

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12702163%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

K Wagner

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12702163%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

A Langmann

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12702163%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

K Buiting

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12702163%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

P M Kroisel

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12702163%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

publication date

1 April 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12702163%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12702163%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

volume

63

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12702163%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:12702163%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

page(s)

297-302

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12702163%20AND%20SRC:MED&resulttype=core&format=json

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

2 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00059.X

7 January 2021

Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00059.X

7 January 2021

A case of Prader-Willi syndrome arising as a result of familial unbalanced translocation t(11;15)(q25;q13)

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00059.X

7 January 2021

Nonreciprocal and jumping translocations of 15q1----qter in Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00059.X

7 January 2021

Deletions of proximal 15q and non-classical Prader-Willi syndrome phenotypes

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00059.X

7 January 2021

High resolution banding of an unusual reciprocal translocation in recurrent abortions

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00059.X

7 January 2021

Isolation of site-specific insert probes from chimeric YACs

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00059.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00059.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00059.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00059.X

7 January 2021

True telomeric translocation in a baby with the Prader-Willi phenotype

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00059.X

7 January 2021

Unbalanced translocation t(15;22) in "severe" Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00059.X

7 January 2021

Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00059.X

7 January 2021

Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00059.X

7 January 2021

Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00059.X

7 January 2021

Visual evoked potentials in Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00059.X

7 January 2021

The intracellular cytoplasmic domain of the Alzheimer's disease amyloid precursor protein interacts with phosphotyrosine-binding domain proteins in the yeast two-hybrid system

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00059.X

7 January 2021

Molecular cloning and chromosomal localization of the human alpha 7-nicotinic receptor subunit gene (CHRNA7).

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00059.X

7 January 2021

Regional mapping of the human gene encoding the novel pituitary polypeptide 7B2 to chromosome 15q13----q14 by in situ hybridization

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00059.X

7 January 2021

Primary structure and distribution of a novel ryanodine receptor/calcium release channel from rabbit brain.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00059.X

7 January 2021

DRM/GREMLIN (CKTSF1B1) maps to human chromosome 15 and is highly expressed in adult and fetal brain

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00059.X

7 January 2021

10.1034/J.1399-0004.2003.00059.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12702163%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference