(Q48179338)

English

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

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Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17478476

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

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17478476

haploinsufficiency

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1 reference

based on heuristic

inferred from title

Pitt-Hopkins syndrome

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based on heuristic

inferred from title

Severe mental retardation

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based on heuristic

inferred from title

Bernhard Radlwimmer

8

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17478476

Wolfgang Driever

11

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Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17478476

Christian Kubisch

object named as

Christian Kubisch

12

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Alexander Hoischen

4

object named as

Alexander Hoischen

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

9

object named as

Peter Lichter

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17478476

author name string

Antje Brockschmidt

1

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17478476

Unda Todt

2

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Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17478476

Soojin Ryu

3

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Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17478476

Christina Landwehr

5

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Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17478476

Stefanie Birnbaum

6

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Europe PubMed Central

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9 February 2018

http://europepmc.org/abstract/MED/17478476

Wilhelm Frenck

7

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17478476

Hartmut Engels

10

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Europe PubMed Central

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9 February 2018

http://europepmc.org/abstract/MED/17478476

Ruthild G Weber

13

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9 February 2018

http://europepmc.org/abstract/MED/17478476

publication date

3 May 2007

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9 February 2018

http://europepmc.org/abstract/MED/17478476

Human Molecular Genetics

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Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17478476

16

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Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17478476

12

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Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17478476

1488-1494

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Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17478476

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM099

21 January 2018

Possible case of Pitt-Hopkins syndrome in sibs.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM099

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM099

21 January 2018

Helix-loop-helix proteins: regulators of transcription in eucaryotic organisms

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM099

21 January 2018

Helix-loop-helix factors in growth and differentiation of the vertebrate nervous system

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM099

21 January 2018

Basic helix-loop-helix factors in cortical development

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM099

21 January 2018

Expression of basic-helix-loop-helix transcription factor ME2 during brain development and in the regions of neuronal plasticity in the adult brain

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM099

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM099

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM099

21 January 2018

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://api.crossref.org/works/10.1093%2FHMG%2FDDM099

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM099

21 January 2018

DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM099

21 January 2018

Two-color whole-mount in situ hybridization to vertebrate and Drosophila embryos

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM099

21 January 2018

Identifiers

10.1093/HMG/DDM099

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17478476

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/17478476

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