(Q41936341)

14 October 2017

title

Mosaic microdeletion 18q21 as a cause of mental retardation (English)

1 reference

14 October 2017

Grace Yoon

3

1 reference

14 October 2017

Dimitri J. Stavropoulos

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20813211

5 July 2024

Daune L. MacGregor

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20813211

5 July 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20813211

5 July 2024

publication date

21 September 2010

1 reference

full work available at URL

14 October 2017

https://api.elsevier.com/content/article/PII:S1769721210000868?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.08.005

https://api.elsevier.com/content/article/PII:S1769721210000868?httpAccept=text/plain

5 July 2024

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.08.005

European Journal of Medical Genetics

5 July 2024

published in

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14 October 2017

volume

53

1 reference

14 October 2017

issue

6

1 reference

14 October 2017

page(s)

396-399

1 reference

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

14 October 2017

cites work

1

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.08.005

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array

5 July 2024

2

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.08.005

Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray

5 July 2024

3

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.08.005

Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.

5 July 2024

4

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.08.005

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

5 July 2024

5

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.08.005

Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)

5 July 2024

6

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.08.005

The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors

5 July 2024

7

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.08.005

TCF4 deletions in Pitt-Hopkins Syndrome.

5 July 2024

8

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.08.005

A syndrome of mental retardation, wide mouth and intermittent overbreathing

5 July 2024

9

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.08.005

Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

5 July 2024

10

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.08.005

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

5 July 2024

11

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.08.005

5 July 2024

Identifiers

1 reference

14 October 2017

1 reference