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

From Wikidata

Revision as of 13:10, 13 August 2023 by Emijrpbot (talk | contribs) (‎Changed label, description and/or aliases in pt-br: BOT - Fixing descriptions (1 languages): pt-br)

(diff) ← Older revision | Latest revision (diff) | Newer revision → (diff)

Jump to navigation Jump to search

scientific article

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

Statements

scholarly article

0 references

0 references

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

0 references

Haploinsufficiency

0 references

Pitt-Hopkins syndrome

1 reference

based on heuristic

inferred from title

Jill Clayton-Smith

6

0 references

11

0 references

12

0 references

3

0 references

20

0 references

18

object named as

Andre Reis

0 references

14

object named as

Raoul C M Hennekam

0 references

author name string

Christiane Zweier

1

0 references

Maarit M Peippo

2

0 references

Sergio Sousa

4

0 references

Armand Bottani

5

0 references

William Reardon

7

0 references

Jorge Saraiva

8

0 references

Alexandra Cabral

9

0 references

Ina Gohring

10

0 references

Emilia K Bijlsma

13

0 references

Alfredo Orrico

15

0 references

Monika Cohen

16

0 references

Alexander Dreweke

17

0 references

Peter Nurnberg

19

0 references

language of work or name

0 references

publication date

May 2007

0 references

American Journal of Human Genetics

0 references

80

0 references

5

0 references

994-1001

0 references

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

1 reference

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

7 April 2017

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

1 reference

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

7 April 2017

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

1 reference

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

7 April 2017

Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

1 reference

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

7 April 2017

HASH-1 and E2-2 are expressed in human neuroblastoma cells and form a functional complex

1 reference

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

7 April 2017

Helix-loop-helix transcriptional activators bind to a sequence in glucocorticoid response elements of retrovirus enhancers

1 reference

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

7 April 2017

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

1 reference

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

7 April 2017

ZFHX1B mutations in patients with Mowat-Wilson syndrome

1 reference

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

28 September 2017

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

1 reference

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

28 September 2017

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

1 reference

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

28 September 2017

Molecular karyotyping in human constitutional cytogenetics

1 reference

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

28 September 2017

Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis.

1 reference

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

28 September 2017

Molecular karyotyping using an SNP array for genomewide genotyping.

1 reference

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

28 September 2017

Hirschsprung disease, associated syndromes, and genetics: a review

1 reference

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

28 September 2017

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

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

28 September 2017

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

1 reference

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

28 September 2017

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

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

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

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

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

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

28 November 2018

Clinical and mutational spectrum of Mowat-Wilson syndrome.

1 reference

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

28 November 2018

Possible case of Pitt-Hopkins syndrome in sibs.

1 reference

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

28 November 2018

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

1 reference

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

28 November 2018

Mental retardation, macrostomia and hyperpnoea syndrome.

1 reference

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

28 November 2018

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

Identifiers

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q24682812&oldid=1953001713"