(Q35679782)

English

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome

scientific article published on 7 September 2011

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Paulina Carmona-Mora

3

object named as

Paulina Carmona-Mora

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

11

object named as

Katherina Walz

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

author name string

Gustavo H Vieira

1

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Jayson D Rodriguez

2

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Lei Cao

4

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Bruno F Gamba

5

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Daniel R Carvalho

6

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Andréa de Rezende Duarte

7

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Suely R Santos

8

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Deise H de Souza

9

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Barbara R DuPont

10

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Danilo Moretti-Ferreira

12

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Anand K Srivastava

13

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

publication date

7 September 2011

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

European Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

20

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

148-154

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260931

12 July 2018

Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260931

12 July 2018

Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260931

12 July 2018

A functional network module for Smith-Magenis syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260931

12 July 2018

Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260931

12 July 2018

Smith-Magenis syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260931

12 July 2018

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260931

12 July 2018

RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260931

12 July 2018

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260931

12 July 2018

beta(1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260931

12 July 2018

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260931

12 July 2018

Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260931

25 September 2018

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260931

25 September 2018

Overview of Smith-Magenis syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260931

25 September 2018

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260931

25 September 2018

Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260931

25 September 2018

Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260931

25 September 2018

Mutations in RAI1 associated with Smith-Magenis syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260931

25 September 2018

Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260931

25 September 2018

Brief report: cognitive and behavioral profiles in persons with Smith-Magenis syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260931

25 September 2018

Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.167

21 January 2018

Identifiers

10.1038/EJHG.2011.167

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

ResearchGate publication ID

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