(Q41640473)

5 October 2017

1 reference

title

Structure and function of the human chromosome 15 imprinting center (English)

1 reference

5 October 2017

Horsthemke B

1

1 reference

5 October 2017

1 November 1997

1 reference

Journal of Cellular Physiology

5 October 2017

1 reference

5 October 2017

173

1 reference

5 October 2017

237-241

1 reference

5 October 2017

2

1 reference

Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome

5 October 2017

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

Uniparental paternal disomy in Angelman's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

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%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

Identification of a novel paternally expressed gene in the Prader-Willi syndrome region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

Allele-specific replication timing of imprinted gene regions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

Familial Prader-Willi syndrome with apparently normal chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

Familial Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

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/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

Replication asynchrony between homologs 15q11.2: cytogenetic evidence for genomic imprinting

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

Microdissection of the Prader-Willi syndrome chromosome region and identification of potential gene sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

Tissue-specific and allele-specific replication timing control in the imprinted human Prader-Willi syndrome region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4652%28199711%29173%3A2%3C237%3A%3AAID-JCP28%3E3.0.CO%3B2-B

10.1002/(SICI)1097-4652(199711)173:2<237::AID-JCP28>3.0.CO;2-B

21 January 2018

Identifiers

DOI

1 reference

5 October 2017

1 reference

PubMed ID

9365529