(Q74108606)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10925385%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Third Prader-Willi syndrome phenotype due to maternal uniparental disomy 15 with mosaic trisomy 15 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10925385%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

main subject

Prader–Willi syndrome

1 reference

1 reference

1 reference

E Olander

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10925385%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

J Stamberg

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10925385%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

L Steinberg

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10925385%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

E A Wulfsberg

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10925385%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

publication date

1 July 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10925385%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

9 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10925385%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

volume

93

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10925385%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10925385%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

page(s)

215-218

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10925385%20AND%20SRC:MED&resulttype=core&format=json

A linkage map of human chromosome 15 with an average resolution of 2 cM and containing 55 polymorphic microsatellites

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C215%3A%3AAID-AJMG11%3E3.0.CO%3B2-K

Delineation of a clinical syndrome caused by mosaic trisomy 15

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C215%3A%3AAID-AJMG11%3E3.0.CO%3B2-K

Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C215%3A%3AAID-AJMG11%3E3.0.CO%3B2-K

Photoanthropometric study of craniofacial traits of individuals with Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C215%3A%3AAID-AJMG11%3E3.0.CO%3B2-K

Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C215%3A%3AAID-AJMG11%3E3.0.CO%3B2-K

A case of trisomy of chromosome 15

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C215%3A%3AAID-AJMG11%3E3.0.CO%3B2-K

Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C215%3A%3AAID-AJMG11%3E3.0.CO%3B2-K

The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C215%3A%3AAID-AJMG11%3E3.0.CO%3B2-K

Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C215%3A%3AAID-AJMG11%3E3.0.CO%3B2-K

The Human γ-Aminobutyric Acid Receptor Subunit β3 and α5 Gene Cluster in Chromosome 15q11-q13 Is Rich in Highly Polymorphic (CA)n Repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C215%3A%3AAID-AJMG11%3E3.0.CO%3B2-K

Trisomy 15 associated with nonimmune hydrops

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C215%3A%3AAID-AJMG11%3E3.0.CO%3B2-K

Mosaic trisomy 15 found at amniocentesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C215%3A%3AAID-AJMG11%3E3.0.CO%3B2-K

Trisomy 15 in chorionic villi and Prader-Willi syndrome at birth

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C215%3A%3AAID-AJMG11%3E3.0.CO%3B2-K

Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C215%3A%3AAID-AJMG11%3E3.0.CO%3B2-K

Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C215%3A%3AAID-AJMG11%3E3.0.CO%3B2-K

Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C215%3A%3AAID-AJMG11%3E3.0.CO%3B2-K

A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C215%3A%3AAID-AJMG11%3E3.0.CO%3B2-K

Prospective prenatal diagnosis of Prader-Willi syndrome due to maternal disomy for chromosome 15 following trisomic zygote rescue

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C215%3A%3AAID-AJMG11%3E3.0.CO%3B2-K

Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C215%3A%3AAID-AJMG11%3E3.0.CO%3B2-K

Prenatal diagnosis of Prader-Willi syndrome using PW71 methylation analysis--uniparental disomy and the significance of residual trisomy 15

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C215%3A%3AAID-AJMG11%3E3.0.CO%3B2-K

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C215%3A%3AAID-AJMG11%3E3.0.CO%3B2-K

Prenatal diagnosis of low level trisomy 15 mosaicism: review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C215%3A%3AAID-AJMG11%3E3.0.CO%3B2-K

10.1002/1096-8628(20000731)93:3<215::AID-AJMG11>3.0.CO;2-K

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10925385%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference