(Q41938326)

14 October 2017

title

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum (English)

1 reference

Erratum: Corrigendum: Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

14 October 2017

0 references

1 reference

corrigendum / erratum

1 reference

12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1038/NG1108-1384B

author

William B. Dobyns

16

1 reference

14 October 2017

Eva Klopocki

15

0 references

Kerstin Kutsche

17

object named as

Kerstin Kutsche

1 reference

14 October 2017

2

Denise Horn

1 reference

14 October 2017

Juliane Najm

1

1 reference

14 October 2017

Isabella Wimplinger

3

1 reference

14 October 2017

Jeffrey A Golden

4

1 reference

14 October 2017

Victor V Chizhikov

5

1 reference

14 October 2017

Jyotsna Sudi

6

1 reference

14 October 2017

Susan L Christian

7

1 reference

14 October 2017

Reinhard Ullmann

8

1 reference

14 October 2017

Alma Kuechler

9

1 reference

14 October 2017

Carola A Haas

10

1 reference

14 October 2017

Armin Flubacher

11

1 reference

14 October 2017

Lawrence R Charnas

12

1 reference

14 October 2017

Gökhan Uyanik

13

1 reference

14 October 2017

Ulrich Frank

14

1 reference

14 October 2017

language of work or name

English

0 references

publication date

1 September 2008

1 reference

14 October 2017

1 reference

14 October 2017

volume

40

1 reference

14 October 2017

issue

9

1 reference

14 October 2017

page(s)

1065-1067

1 reference

What primary microcephaly can tell us about brain growth.

14 October 2017

cites work

1 reference

Transcription factors in glutamatergic neurogenesis: conserved programs in neocortex, cerebellum, and adult hippocampus

21 January 2018

1 reference

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

21 January 2018

1 reference

The role of the MAGUK protein CASK in neural development and synaptic function.

21 January 2018

1 reference

Nuclear translocation and transcription regulation by the membrane-associated guanylate kinase CASK/LIN-2

21 January 2018

1 reference

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

21 January 2018

1 reference

Deletion of CASK in mice is lethal and impairs synaptic function

21 January 2018

1 reference

Murine CASK is disrupted in a sex-linked cleft palate mouse mutant

21 January 2018

1 reference

Tbr1 regulates differentiation of the preplate and layer 6.

21 January 2018

1 reference

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations

21 January 2018

1 reference

Listening to silence and understanding nonsense: exonic mutations that affect splicing

21 January 2018

1 reference

X-inactivation and human disease: X-linked dominant male-lethal disorders

21 January 2018

1 reference

An olfactory sensory map develops in the absence of normal projection neurons or GABAergic interneurons

21 January 2018

1 reference

CTIP1 and CTIP2 are differentially expressed during mouse embryogenesis

21 January 2018

1 reference

Reeler: new tales on an old mutant mouse

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG.194

1 reference

Dimensions Publication ID

14 October 2017

1032278438

0 references

1 reference