(Q34447099)

2 August 2017

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly (English)

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Severe mental retardation

2 August 2017

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8

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2 August 2017

6

Niels Tommerup

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Hans-Hilger Ropers

7

object named as

Hans-Hilger Ropers

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2 August 2017

Sarah A Shoichet

1

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2 August 2017

Stella-Amrei Kunde

2

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2 August 2017

Petra Viertel

3

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2 August 2017

Can Schell-Apacik

4

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2 August 2017

Hubertus von Voss

5

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2 August 2017

language of work or name

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17 August 2005

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2 August 2017

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2 August 2017

117

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2 August 2017

6

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2 August 2017

536-544

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https://scigraph.springernature.com/pub.10.1007/s00439-005-1310-3

2 August 2017

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cites work

First case of deletion 14q11.2q13: clinical phenotype.

1 reference

12 December 2020

De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints

1 reference

12 December 2020

Brain factor-1 controls the proliferation and differentiation of neocortical progenitor cells through independent mechanisms

1 reference

12 December 2020

Foxg1 suppresses early cortical cell fate

1 reference

12 December 2020

The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation

1 reference

12 December 2020

Winged helix transcription factor BF-1 is essential for the development of the cerebral hemispheres

1 reference

12 December 2020

Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

1 reference

12 December 2020

Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes

1 reference

12 December 2020

A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

1 reference

12 December 2020

Rho proteins, mental retardation and the cellular basis of cognition

1 reference

12 December 2020

Interstitial deletion of chromosome 14q in a Taiwanese infant with microcephaly

1 reference

12 December 2020

An improved PCR method for walking in uncloned genomic DNA.

1 reference

12 December 2020

Human brain factor 1, a new member of the fork head gene family

1 reference

12 December 2020

LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition

1 reference

12 December 2020

De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings.

1 reference

12 December 2020

Abnormal myelination in a patient with deletion 14q11.2q13.1.

1 reference

12 December 2020

10.1007/S00439-005-1310-3

Identifiers

DOI

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Dimensions Publication ID

2 August 2017

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