Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model (Q45415403)

14 December 2017

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

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14 December 2017

Pitt-Hopkins syndrome

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3

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7

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14 December 2017

Antje Brockschmidt

1

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14 December 2017

Alida Filippi

2

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14 December 2017

Michael Nelles

4

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14 December 2017

Horst Urbach

5

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14 December 2017

Nicole Eter

6

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14 December 2017

Ruthild G Weber

8

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14 December 2017

5 May 2011

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130

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5

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645-655

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https://scigraph.springernature.com/pub.10.1007/s00439-011-0999-4

14 December 2017

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cites work

The expression pattern of two zebrafish achaete-scute homolog (ash) genes is altered in the embryonic brain of the cyclops mutant.

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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

21 January 2018

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

21 January 2018

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E2-2 protein and Fuchs's corneal dystrophy

21 January 2018

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Pax-6 expression in posthatch chick retina during and recovery from form-deprivation myopia.

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

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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Retinal dysfunction and refractive errors: an electrophysiological study of children.

21 January 2018

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

21 January 2018

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Enhanced depth imaging optical coherence tomography of the choroid in highly myopic eyes.

21 January 2018

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TCF4 deletions in Pitt-Hopkins Syndrome.

21 January 2018

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A susceptibility locus for myopia in the normal population is linked to the PAX6 gene region on chromosome 11: a genomewide scan of dizygotic twins

21 January 2018

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Association of PAX6 polymorphisms with high myopia in Han Chinese nuclear families.

21 January 2018

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Two-color whole-mount in situ hybridization to vertebrate and Drosophila embryos

21 January 2018

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

21 January 2018

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Retinal and choroidal biometry in highly myopic eyes with spectral-domain optical coherence tomography

21 January 2018

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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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Overexpression of neurogenin induces ectopic expression of HuC in zebrafish.

21 January 2018

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Stages of embryonic development of the zebrafish

21 January 2018

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Regulatory module network of basic/helix-loop-helix transcription factors in mouse brain

21 January 2018

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A class of neuroD-related basic helix-loop-helix transcription factors expressed in developing central nervous system in zebrafish.

21 January 2018

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

21 January 2018

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Fiber tracking: principles and strategies - a technical review

21 January 2018

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Three-dimensional tracking of axonal projections in the brain by magnetic resonance imaging

21 January 2018

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Retinal function in high refractive error assessed electroretinographically

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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p53 activation by knockdown technologies

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

21 January 2018

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

21 January 2018

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Fiber tract-based atlas of human white matter anatomy

21 January 2018

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In vivo three-dimensional reconstruction of rat brain axonal projections by diffusion tensor imaging.

21 January 2018

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

21 January 2018

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

21 January 2018

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PAX6Mutations May Be Associated with High Myopia

21 January 2018

1 reference

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AC and AG dinucleotide repeats in the PAX6 P1 promoter are associated with high myopia.

21 January 2018

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12 December 2020

Zebrafish pax[zf-a]: a paired box-containing gene expressed in the neural tube.

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12 December 2020

ISCEV Standard for full-field clinical electroretinography (2008 update).

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12 December 2020

A syndrome of mental retardation, wide mouth and intermittent overbreathing

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12 December 2020

Determination of the zebrafish forebrain: induction and patterning.

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12 December 2020

Nonlinear component of the electroretinogram recorded from the posterior pole of normal and highly myopic human eyes

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12 December 2020

The activity of neurogenin1 is controlled by local cues in the zebrafish embryo.

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12 December 2020

10.1007/S00439-011-0999-4

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DOI

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14 December 2017

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