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

11

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Thomy de Ravel

12

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Juliane Hoyer

3

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Anita Rauch

20

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André Reis

18

object named as

Andre Reis

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Raoul Hennekam

14

object named as

Raoul C M Hennekam

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author name string

Christiane Zweier

1

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Maarit M Peippo

2

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Sergio Sousa

4

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Armand Bottani

5

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William Reardon

7

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Jorge Saraiva

8

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Alexandra Cabral

9

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Ina Gohring

10

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Emilia K Bijlsma

13

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Alfredo Orrico

15

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Monika Cohen

16

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Alexander Dreweke

17

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Peter Nurnberg

American Journal of Human Genetics

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language of work or name

English

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publication date

May 2007

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published in

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volume

80

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issue

5

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page(s)

994-1001

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cites work

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

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28 September 2017

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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.

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

28 September 2017

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

30 May 2018

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

30 May 2018

1 reference

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A syndrome of mental retardation, wide mouth and intermittent overbreathing

30 May 2018

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30 May 2018

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28 November 2018

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Possible case of Pitt-Hopkins syndrome in sibs.

28 November 2018

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

28 November 2018

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Mental retardation, macrostomia and hyperpnoea syndrome.

28 November 2018

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

28 November 2018

1 reference

PubMed

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

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

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

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/515583

1 reference

1635344

1635344

1 reference

1 reference

1 reference