(Q57758171)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22045651%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

title

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22045651%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

main subject

diagnosis

0 references

Pitt-Hopkins syndrome

1 reference

4

1 reference

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15 January 2020

Marlene Rio

22

1 reference

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15 January 2020

Didier Lacombe

25

1 reference

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15 January 2020

Sophie Dupuis-Girod

27

1 reference

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15 January 2020

Damien Sanlaville

29

1 reference

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15 January 2020

Jeanne Amiel

35

1 reference

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15 January 2020

10

Alexandra Afenjar

1 reference

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15 January 2020

2

Delphine Héron

1 reference

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15 January 2020

author name string

Sandra Whalen

1

1 reference

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15 January 2020

Thierry Gaillon

3

1 reference

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15 January 2020

Massimiliano Rossi

5

1 reference

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15 January 2020

Françoise Devillard

6

1 reference

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15 January 2020

Fabienne Giuliano

7

1 reference

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15 January 2020

Gabriela Soares

8

1 reference

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15 January 2020

Michelle Mathieu-Dramard

9

1 reference

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15 January 2020

Perrine Charles

11

1 reference

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15 January 2020

Cyril Mignot

12

1 reference

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15 January 2020

Lydie Burglen

13

1 reference

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15 January 2020

Lionel Van Maldergem

14

1 reference

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15 January 2020

Juliette Piard

15

1 reference

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15 January 2020

Salim Aftimos

16

1 reference

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15 January 2020

Grazia Mancini

17

1 reference

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15 January 2020

Patricia Dias

18

1 reference

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15 January 2020

Nicole Philip

19

1 reference

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15 January 2020

Alice Goldenberg

20

1 reference

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15 January 2020

Martine Le Merrer

21

1 reference

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15 January 2020

Dragana Josifova

23

1 reference

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15 January 2020

Johanna Maria Van Hagen

24

1 reference

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15 January 2020

Patrick Edery

26

1 reference

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15 January 2020

Audrey Putoux

28

1 reference

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15 January 2020

Richard Fischer

30

1 reference

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15 January 2020

Loïc Drévillon

31

1 reference

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15 January 2020

Audrey Briand-Suleau

32

1 reference

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15 January 2020

Corinne Metay

33

1 reference

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15 January 2020

Michel Goossens

34

1 reference

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15 January 2020

Aurelia Jacquette

36

1 reference

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15 January 2020

Irina Giurgea

37

1 reference

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15 January 2020

publication date

23 November 2011

1 reference

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15 January 2020

1 reference

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15 January 2020

volume

33

1 reference

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15 January 2020

issue

1

1 reference

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15 January 2020

page(s)

64-72

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22045651%20AND%20SRC:MED&resulttype=core&format=json

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

15 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

The E2A gene product contains two separable and functionally distinct transcription activation domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

A natural classification of the basic helix-loop-helix class of transcription factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

ZFHX1B mutations in patients with Mowat-Wilson syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

B lineage--specific interactions of an immunoglobulin enhancer with cellular factors in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

Monosomy 1p36 deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

Molecular-clinical spectrum of the ATR-X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

TCF4 deletions in Pitt-Hopkins Syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

HLH proteins, fly neurogenesis, and vertebrate myogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

Enhancer-specific modulation of E protein activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

Interactions between heterologous helix-loop-helix proteins generate complexes that bind specifically to a common DNA sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

A new transcriptional-activation motif restricted to a class of helix-loop-helix proteins is functionally conserved in both yeast and mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

E protein dosage influences brain development more than family member identity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

Why are monozygotic twins different?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

Mosaic microdeletion 18q21 as a cause of mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

Two percent of patients suspected of having Angelman syndrome have TCF4 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

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.21639

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

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.21639

An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

inferred from DOI database lookup

7 January 2021

based on heuristic

Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21639

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.21639

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22045651%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference