(Q34561648)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918545%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

title

The association of Angelman's syndrome with deletions within 15q11-13 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918545%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

author name string

M Pembrey

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918545%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

S J Fennell

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918545%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

J van den Berghe

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918545%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

M Fitchett

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918545%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

D Summers

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918545%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

L Butler

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918545%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

C Clarke

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918545%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

M Griffiths

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918545%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

E Thompson

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918545%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

M Super

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918545%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

language of work or name

English

0 references

publication date

1 February 1989

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918545%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

7 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918545%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

volume

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918545%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918545%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

page(s)

73-77

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918545%20AND%20SRC:MED&resulttype=core&format=json

Deletions of chromosome 15 as a cause of the Prader-Willi syndrome

7 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015553

The Angelman ("happy puppet") syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015553

Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015553

Oculocutaneous albinoidism as a manifestation of reduced neural crest derivatives in the Prader-Willi syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015553

Chiasma distribution, genetic lengths, and recombination fractions: a comparison between chromosomes 15 and 16

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015553

Prader-Willi syndrome and chromosome 15. A clinical discussion of 20 cases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015553

Chromosome 15 anomalies and the Prader-Willi syndrome: Cytogenetic analysis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015553

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015553

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015553

The Angelman (Happy Puppet) syndrome: is it autosomal recessive?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015553

Angelman (happy puppet) syndrome in a girl and her brother

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015553

A blind prometaphase study of Prader-Willi syndrome: frequency and consistency in interpretation of del 15q.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015553

The EEG in early diagnosis of the Angelman (happy puppet) syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015553

Recurrence risk in the Angelman ("happy puppet") syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015553

Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015553

The "happy puppet" syndrome in two siblings

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015553

Prader-Willi syndrome. Variable severity and recurrence risk

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2918545

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical and cytogenetic studies of the Prader-Willi syndrome: evidence of phenotype-karyotype correlation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2918545

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Further studies on chiasma distribution and interference in the human male

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2918545

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.26.2.73

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918545%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2918545%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

PubMed publication ID

2918545

1 reference