Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity. (Q36403943)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617346%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

case report

0 references

title

Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617346%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

0 references

0 references

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617346%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Claire Marie Anderson

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617346%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Niels Tommerup

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617346%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

author name string

Christina Halgren

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617346%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Mads Bak

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617346%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Mikkel Wanting Myatt

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617346%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Karen Brøndum-Nielsen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617346%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

publication date

23 May 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617346%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

2 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617346%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

volume

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617346%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617346%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

page(s)

1315-1319

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617346%20AND%20SRC:MED&resulttype=core&format=json

Etiology of a genetically complex seizure disorder in Celf4 mutant mice

2 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499750

Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499750

An SNP in an ultraconserved regulatory element affects Dlx5/Dlx6 regulation in the forebrain

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499750

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499750

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499750

Complex seizure disorder caused by Brunol4 deficiency in mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499750

Evolution and functional classification of vertebrate gene deserts

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499750

Ultraconserved Elements in the Human Genome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499750

The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499750

A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499750

Characterization of a de novo unbalanced translocation t(14q18q) using microdissection and fluorescence in situ hybridization

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499750

Familial mental retardation in a family with an inherited chromosome rearrangement.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499750

Obesity and abnormal behaviour associated with interstitial deletion of chromosome 18 (q12.2q21.1).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499750

Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499750

Recognizable behavioral and somatic phenotype in patients with proximal interstitial 18q deletion: report on a new affected child and follow-up on the original reported familial cases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499750

Interstitial deletion of the proximal region of the long arm of chromosome 18, del(18q12) a distinct clinical entity? A report of two new cases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499750

Monosomy 18q12.1----21.1: a recognizable aneuploidy syndrome? Report of a patient and review of the literature

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499750

Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499750

Molecular characterisation of a proximal chromosome 18q deletion

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499750

Interstitial deletion of chromosome 18[del(18)(q11.2q12.2 or q12.2q21.1]

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499750

Differential expression of the Brunol/CELF family genes during Xenopus laevis early development

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499750

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499750

Long‐term survival in a patient with del(18)(q12.2q21.1)

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499750

Identification and characterization of murine Brunol4, a new member of the elav/bruno family.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499750

Genotype–phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map

21 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.92

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22617346

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2012.92

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617346%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617346%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

PubMed publication ID

22617346

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617346%20AND%20SRC:MED&resulttype=core&format=json