(Q28265767)

1

0 references

Kathleen Leppig

2

0 references

Blake C Ballif

3

0 references

Heidi Thiese

4

0 references

Christine Erdie-Lalena

5

0 references

Erwati Bawle

6

0 references

Sujatha Sastry

7

0 references

J Edward Spence

8

0 references

Anne Bandholz

9

0 references

Urvashi Surti

10

0 references

Jonathan Zonana

11

0 references

Kory Keller

12

0 references

Bassem A Bejjani

14

0 references

Beth S Torchia

15

0 references

Lisa G Shaffer

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

16

0 references

language of work or name

English

0 references

publication date

November 2009

0 references

published in

Genetics in Medicine

0 references

volume

11

0 references

issue

11

0 references

page(s)

797-805

0 references

cites work

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

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/10.1097%2FGIM.0B013E3181BD38A9

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/10.1097%2FGIM.0B013E3181BD38A9

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/10.1097%2FGIM.0B013E3181BD38A9

TCF4 deletions in Pitt-Hopkins Syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

18q deletions: clinical, molecular, and brain MRI findings of 14 individuals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

Prevalence estimation of Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

21 January 2018

Smith-Magenis syndrome

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

The role of class I HLH genes in neural development--have they been overlooked?

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

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/10.1097%2FGIM.0B013E3181BD38A9

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/10.1097%2FGIM.0B013E3181BD38A9

Specification of the central noradrenergic phenotype by the homeobox gene Phox2b.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

Mammalian achaete-scute homolog 1 is required for the early development of olfactory and autonomic neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

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/10.1097%2FGIM.0B013E3181BD38A9

High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

Functional replacement of the mouse E2A gene with a human HEB cDNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

A BMAL1 mutant with arginine 91 substituted with alanine acts as a dominant negative inhibitor

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

Mechanisms of an autoimmunity syndrome in mice caused by a dominant mutation in Aire

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

Functional analysis of a dominant negative mutation of interferon regulatory factor 5

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

The conserved glutamine-rich region of chick csal1 and csal3 mediates protein interactions with other spalt family members. Implications for Townes-Brocks syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181BD38A9