Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum (Q57758171)

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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

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15 January 2020

main subject

diagnosis

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Pitt-Hopkins syndrome

1 reference

4

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15 January 2020

Marlene Rio

22

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15 January 2020

Didier Lacombe

25

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15 January 2020

Sophie Dupuis-Girod

27

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15 January 2020

Damien Sanlaville

29

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Jeanne Amiel

35

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15 January 2020

10

Alexandra Afenjar

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15 January 2020

2

Delphine Héron

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15 January 2020

author name string

Sandra Whalen

1

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15 January 2020

Thierry Gaillon

3

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15 January 2020

Massimiliano Rossi

5

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Françoise Devillard

6

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Fabienne Giuliano

7

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Gabriela Soares

8

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Michelle Mathieu-Dramard

9

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Perrine Charles

11

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15 January 2020

Cyril Mignot

12

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Lydie Burglen

13

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Lionel Van Maldergem

14

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Juliette Piard

15

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Salim Aftimos

16

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15 January 2020

Grazia Mancini

17

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Patricia Dias

18

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Nicole Philip

19

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Alice Goldenberg

20

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15 January 2020

Martine Le Merrer

21

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Dragana Josifova

23

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Johanna Maria Van Hagen

24

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Patrick Edery

26

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Audrey Putoux

28

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Richard Fischer

30

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Loïc Drévillon

31

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Audrey Briand-Suleau

32

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Corinne Metay

33

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Michel Goossens

34

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Aurelia Jacquette

36

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Irina Giurgea

37

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publication date

23 November 2011

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15 January 2020

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15 January 2020

volume

33

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15 January 2020

issue

1

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15 January 2020

page(s)

64-72

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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

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1 reference

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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ZFHX1B mutations in patients with Mowat-Wilson syndrome

21 January 2018

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

21 January 2018

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

21 January 2018

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

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

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HLH proteins, fly neurogenesis, and vertebrate myogenesis

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

21 January 2018

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

21 January 2018

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Enhancer-specific modulation of E protein activity

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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E protein dosage influences brain development more than family member identity

21 January 2018

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

21 January 2018

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Why are monozygotic twins different?

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21 January 2018

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21 January 2018

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

21 January 2018

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21 January 2018

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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