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

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2 February 2020

case report

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title

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

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2 February 2020

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2

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2 February 2020

Claire Marie Anderson

5

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2 February 2020

Niels Tommerup

7

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2 February 2020

author name string

Christina Halgren

1

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2 February 2020

Mads Bak

3

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2 February 2020

Mikkel Wanting Myatt

4

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Karen Brøndum-Nielsen

6

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publication date

23 May 2012

1 reference

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European Journal of Human Genetics

2 February 2020

published in

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volume

20

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issue

12

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page(s)

1315-1319

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https://scigraph.springernature.com/pub.10.1038/ejhg.2012.92

2 February 2020

exact match

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cites work

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

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

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30 September 2017

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

30 September 2017

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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

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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

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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

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

30 September 2017

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

30 September 2017

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Molecular characterisation of a proximal chromosome 18q deletion

30 September 2017

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

28 June 2018

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

28 June 2018

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

21 September 2018

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

21 September 2018

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

21 September 2018

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

21 September 2018

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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

1 reference

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