(Q28236006)

6

Nathalie Boddaert

0 references

Stanislas Lyonnet

23

Stanislas Lyonnet

0 references

Capucine Picard

8

Capucine Picard

0 references

Christelle Golzio

Christelle Golzio

3

0 references

Valérie Malan

Valérie Malan

5

0 references

Heather Etchevers

Heather Etchevers

22

0 references

Laurence Colleaux

Laurence Colleaux

20

0 references

Jeanne Amiel

Jeanne Amiel

24

0 references

Anne Durandy

Anne Durandy

9

0 references

Delphine Héron

11

Delphine Heron

0 references

Loic de Pontual

1

Loïc de Pontual

0 references

Bertrand Isidor

12

Bertrand Isidor

0 references

Laurent Pasquier

15

Laurent Pasquier

0 references

Géraldine Viot

17

Géraldine Viot

0 references

Michel Vekemans

21

Michel Vekemans

0 references

author name string

Yves Mathieu

2

0 references

Marlène Rio

4

0 references

Christine Soufflet

7

0 references

Angus Dobbie

10

0 references

Jacques Motte

13

0 references

Ruth Newburry-Ecob

14

0 references

Marc Tardieu

16

0 references

Francis Jaubert

E2A and E2-2 are subunits of B-cell-specific E2-box DNA-binding proteins

18

0 references

language of work or name

English

0 references

publication date

April 2009

0 references

published in

Human Mutation

0 references

volume

30

0 references

issue

4

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page(s)

669-76

0 references

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20935

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20935

Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20935

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20935

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20935

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20935

7 January 2021

Proneural bHLH and Brn proteins coregulate a neurogenic program through cooperative binding to a conserved DNA motif

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20935

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20935

7 January 2021

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20935

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20935

7 January 2021

TCF4 deletions in Pitt-Hopkins Syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20935

7 January 2021

Two distinct transcription factors that bind the immunoglobulin enhancer microE5/kappa 2 motif

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20935

7 January 2021

High-resolution genomic profiling of childhood ALL reveals novel recurrent genetic lesions affecting pathways involved in lymphocyte differentiation and cell cycle progression.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20935

7 January 2021

Helix-loop-helix proteins and lymphocyte development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20935

7 January 2021

Possible case of Pitt-Hopkins syndrome in sibs.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20935

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20935

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20935

7 January 2021

E protein dosage influences brain development more than family member identity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20935

7 January 2021

A syndrome involving intrauterine growth retardation, microcephaly, cerebellar hypoplasia, B lymphocyte deficiency, and progressive pancytopenia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20935

7 January 2021

Basic helix-loop-helix factors in cortical development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20935

7 January 2021

Intestine-specific ablation of mouse atonal homolog 1 (Math1) reveals a role in cellular homeostasis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20935

7 January 2021

Mental retardation, macrostomia and hyperpnoea syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20935

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20935

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20935

7 January 2021

Identifiers

DOI

10.1002/HUMU.20935

1 reference

Consolidated OpenCitations Corpus – April 2017

release_ix6ccokqt5bkdlajuryv2vtitq

1635365

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ix6ccokqt5bkdlajuryv2vtitq

24 November 2022

mapped directly with Wikidata item

1635365

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference