(Q41920951)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15470370%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

title

Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15470370%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15470370%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

author name string

Monica Castro Varela

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15470370%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Fernando Kok

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15470370%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Celia Priszkulnik Koiffmann

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15470370%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

publication date

1 December 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15470370%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

3 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15470370%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

volume

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15470370%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

page(s)

987-992

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15470370%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15470370%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201264

3 January 2020

exact match

0 references

cites work

‘Puppet’ Children A Report on Three Cases

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201264

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201264

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201264

Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201264

Molecular and Fluorescence In Situ Hybridization Characterization of the Breakpoints in 46 Large Supernumerary Marker 15 Chromosomes Reveals an Unexpected Level of Complexity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201264

The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201264

Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201264

Characterisation of interstitial duplications and triplications of chromosome 15q11-q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201264

Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201264

Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201264

Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201264

Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201264

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201264

Distinct phenotypes distinguish the molecular classes of Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201264

Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201264

NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201264

Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201264

Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201264

inferred from DOI database lookup

7 January 2021

based on heuristic

A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201264

inferred from DOI database lookup

7 January 2021

based on heuristic

Origin of uniparental disomy 15 in patients with Prader-Willi or Angelman syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201264

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201264

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15470370%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

3 January 2020

0 references

1 reference