Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome) (Q24682812)

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Language	Label	Description	Also known as
English	Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)	scientific article

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scholarly article

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

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Haploinsufficiency

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Pitt-Hopkins syndrome

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inferred from title

Jill Clayton-Smith

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11

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3

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20

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object named as

Andre Reis

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Raoul C M Hennekam

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author name string

Christiane Zweier

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Maarit M Peippo

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Sergio Sousa

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Armand Bottani

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William Reardon

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Jorge Saraiva

8

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Alexandra Cabral

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Ina Gohring

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Emilia K Bijlsma

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Alfredo Orrico

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Monika Cohen

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Alexander Dreweke

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Peter Nurnberg

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language of work or name

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publication date

May 2007

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American Journal of Human Genetics

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80

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5

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994-1001

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Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase

1 reference

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

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

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Hirschsprung disease, associated syndromes, and genetics: a review

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A splice variant of E2-2 basic helix-loop-helix protein represses the brain-specific fibroblast growth factor 1 promoter through the binding to an imperfect E-box

1 reference

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B-lymphocyte development is regulated by the combined dosage of three basic helix-loop-helix genes, E2A, E2-2, and HEB.

1 reference

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Pitt-Hopkins syndrome in two patients and further definition of the phenotype

1 reference

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Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3).

1 reference

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Mental retardation, "coarse" face, and hyperbreathing: confirmation of the Pitt-Hopkins syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852727

30 May 2018

A syndrome of mental retardation, wide mouth and intermittent overbreathing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852727

30 May 2018

Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype

1 reference

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28 November 2018

Clinical and mutational spectrum of Mowat-Wilson syndrome.

1 reference

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28 November 2018

Possible case of Pitt-Hopkins syndrome in sibs.

1 reference

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The basic helix-loop-helix transcription factor E2-2 is involved in T lymphocyte development.

1 reference

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Mental retardation, macrostomia and hyperpnoea syndrome.

1 reference

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MASH-1/RET pathway involvement in development of brain stem control of respiratory frequency in newborn mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/17436255

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The pT alpha promoter and enhancer are direct targets for transactivation by E box-binding proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/17436255

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

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