(Q35578268)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25781356%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

title

Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25781356%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

0 references

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25781356%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Catherine A. Brownstein

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25781356%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Alan H. Beggs

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25781356%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

author name string

Kristyn M Esteves

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25781356%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Meghan C Towne

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25781356%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Philip M James

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25781356%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Laura Crowley

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25781356%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Joel N Hirschhorn

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25781356%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Sarah H Elsea

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25781356%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Jonathan Picker

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25781356%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Pankaj B Agrawal

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25781356%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

language of work or name

English

0 references

publication date

17 March 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25781356%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Clinical Endocrinology and Metabolism

3 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25781356%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

volume

100

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25781356%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25781356%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

page(s)

1723-1730

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25781356%20AND%20SRC:MED&resulttype=core&format=json

Dietary regimens modify early onset of obesity in mice haploinsufficient for Rai1.

3 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422892

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422892

Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422892

RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422892

Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422892

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422892

Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, and neural tumor syndrome in childhood

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422892

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=4422892

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422892

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422892

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422892

The human obesity gene map: the 2005 update

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422892

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422892

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422892

Molecular analysis of congenital central hypoventilation syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422892

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422892

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422892

Ophthalmic manifestations of Smith-Magenis syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422892

ROHHADNET syndrome presenting as major behavioral changes in a 5-year-old obese girl

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422892

Retinoic acid induced-1 (Rai1) regulates craniofacial and brain development in Xenopus.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422892

Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422892

Delineation of Late Onset Hypoventilation Associated with Hypothalamic Dysfunction Syndrome

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422892

PRIMARY ALVEOLAR HYPOVENTILATION SYNDROME (ONDINE'S CURSE).

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422892

Mutations in RAI1 associated with Smith-Magenis syndrome

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422892

A case of rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation, and neural crest tumor: ROHHADNET syndrome

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25781356

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25781356

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25781356

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1210/JC.2014-4215

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25781356%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25781356%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

PubMed publication ID

25781356

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25781356%20AND%20SRC:MED&resulttype=core&format=json