Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome (Q41733066)

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scientific article published on 30 June 2010

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English	Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome	scientific article published on 30 June 2010

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title

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome (English)

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8 October 2017

author name string

Angela L Duker

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2987474

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8 October 2017

Blake C Ballif

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2987474

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Erawati V Bawle

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2987474

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Richard E Person

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Sangeetha Mahadevan

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Sarah Alliman

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Regina Thompson

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Ryan Traylor

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Bassem A Bejjani

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Lisa G Shaffer

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Jill A Rosenfeld

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Allen N Lamb

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Trilochan Sahoo

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13

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8 October 2017

publication date

30 June 2010

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2987474

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8 October 2017

published in

European Journal of Human Genetics

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8 October 2017

volume

18

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2987474

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8 October 2017

issue

11

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page(s)

1196-1201

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cites work

Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

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PubMed Central

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6 June 2018

Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size.

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6 June 2018

A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987474

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6 June 2018

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987474

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6 June 2018

SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987474

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6 June 2018

Deletion of the MBII-85 snoRNA gene cluster in mice results in postnatal growth retardation

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987474

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6 June 2018

Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987474

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6 June 2018

The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987474

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6 June 2018

Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987474

retrieved

6 June 2018

Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987474

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6 June 2018

Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome

1 reference

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987474

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6 June 2018

Small Nucleolar RNAs

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987474

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6 June 2018

The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A

1 reference

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987474

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6 June 2018

The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria

1 reference

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987474

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6 June 2018

A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987474

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6 June 2018

Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987474

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6 June 2018

Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which Is highly expressed in brain

1 reference

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987474

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6 June 2018

Prader-Willi syndrome is caused by disruption of the SNRPN gene

1 reference

stated in

PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987474

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6 June 2018

Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987474

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6 June 2018

Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint

1 reference

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987474

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6 June 2018

Prader-Willi syndrome: consensus diagnostic criteria.

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PubMed Central

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6 June 2018

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.

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PubMed Central

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18 August 2018

Small nucleolar RNAs: an abundant group of noncoding RNAs with diverse cellular functions

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987474

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18 August 2018

Balanced Translocation 46, XY, t(2;15)(q37.2;q11.2) Associated with Atypical Prader-Willi Syndrome

1 reference

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987474

retrieved

18 August 2018

The Angelman syndrome candidate gene, UBE3AIE6-AP, is imprinted in brain

1 reference

stated in

PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987474

retrieved

18 August 2018

Identifiers

DOI

10.1038/EJHG.2010.102

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Europe PubMed Central

PMC publication ID

2987474

retrieved

8 October 2017

Dimensions Publication ID

1028054523

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PMC publication ID

2987474

1 reference

stated in

Europe PubMed Central

PMC publication ID

2987474

retrieved

8 October 2017

PubMed publication ID

20588305

1 reference

stated in

Europe PubMed Central

PMC publication ID

2987474

retrieved

8 October 2017

ResearchGate publication ID

44852298

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