(Q37284354)

19 August 2017

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism (English)

1 reference

19 August 2017

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1 reference

Brock A Peters

7

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Karen Gripp

5

object named as

Karen W Gripp

1 reference

19 August 2017

Christian P Schaaf

1

1 reference

19 August 2017

Manuel L Gonzalez-Garay

2

1 reference

19 August 2017

Fan Xia

3

1 reference

19 August 2017

Lorraine Potocki

4

1 reference

19 August 2017

Baili Zhang

6

1 reference

19 August 2017

Mark A McElwain

8

1 reference

19 August 2017

Radoje Drmanac

9

1 reference

19 August 2017

Arthur L Beaudet

10

1 reference

19 August 2017

C Thomas Caskey

11

1 reference

19 August 2017

Yaping Yang

12

1 reference

19 August 2017

language of work or name

English

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publication date

29 September 2013

1 reference

19 August 2017

1 reference

19 August 2017

45

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19 August 2017

11

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19 August 2017

1405-1408

1 reference

Mouse models of Prader-Willi Syndrome: a systematic review

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3819162

Using whole-exome sequencing to identify inherited causes of autism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3819162

Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3819162

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3819162

Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3819162

De Novo Gene Disruptions in Children on the Autistic Spectrum

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3819162

Patterns and rates of exonic de novo mutations in autism spectrum disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3819162

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3819162

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3819162

Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3819162

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3819162

Impaired hypothalamic regulation of endocrine function and delayed counterregulatory response to hypoglycemia in Magel2-null mice.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3819162

Detection of clinically relevant exonic copy-number changes by array CGH.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3819162

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3819162

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3819162

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3819162

Loss of magel2, a candidate gene for features of Prader-Willi syndrome, impairs reproductive function in mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3819162

A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3819162

A novel H19 antisense RNA overexpressed in breast cancer contributes to paternal IGF2 expression

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3819162

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3819162

Prader-Willi syndrome: consensus diagnostic criteria.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3819162

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3819162

Recommendations for the investigation of animal models of Prader-Willi syndrome

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3819162

3 September 2018

Prader-Willi syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3819162

Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3819162

Pervasive developmental disorders in Prader-Willi syndrome: the Leuven experience in 59 subjects and controls.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3819162

MAGE-RING Protein Complexes Comprise a Family of E3 Ubiquitin Ligases

3 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.2776

21 January 2018

Identifiers

DOI

10.1038/NG.2776

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

24076603

1 reference