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

Standard

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. / Najm, Juliane; Horn, Denise; Rau, Isabella; Golden, Jeffrey A; Chizhikov, Victor V; Jyotsna, Sudi; Christian, Susan L; Ullmann, Reinhard; Kuechler, Alma; Haas, Carola A; Flubacher, Armin; Charnas, Lawrence R; Uyanik, Gökhan; Frank, Ulrich; Klopocki, Eva; Dobyns, William B; Kutsche, Kerstin.

in: NAT GENET, 2008.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Najm, J, Horn, D, Rau, I, Golden, JA, Chizhikov, VV, Jyotsna, S, Christian, SL, Ullmann, R, Kuechler, A, Haas, CA, Flubacher, A, Charnas, LR, Uyanik, G, Frank, U, Klopocki, E, Dobyns, WB & Kutsche, K 2008, 'Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.', NAT GENET. <http://www.ncbi.nlm.nih.gov/pubmed/18690219?dopt=Citation>

APA

Najm, J., Horn, D., Rau, I., Golden, J. A., Chizhikov, V. V., Jyotsna, S., Christian, S. L., Ullmann, R., Kuechler, A., Haas, C. A., Flubacher, A., Charnas, L. R., Uyanik, G., Frank, U., Klopocki, E., Dobyns, W. B., & Kutsche, K. (2008). Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. NAT GENET. http://www.ncbi.nlm.nih.gov/pubmed/18690219?dopt=Citation

Vancouver

Najm J, Horn D, Rau I, Golden JA, Chizhikov VV, Jyotsna S et al. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. NAT GENET. 2008.

Bibtex

@article{255df60bbc504a988935db6e3386f1e6,
title = "Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.",
abstract = "CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN. Here we describe a previously unreported X-linked brain malformation syndrome caused by mutations of CASK. All five affected individuals with CASK mutations had congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia, and severe mental retardation.",
author = "Juliane Najm and Denise Horn and Isabella Rau and Golden, {Jeffrey A} and Chizhikov, {Victor V} and Sudi Jyotsna and Christian, {Susan L} and Reinhard Ullmann and Alma Kuechler and Haas, {Carola A} and Armin Flubacher and Charnas, {Lawrence R} and G{\"o}khan Uyanik and Ulrich Frank and Eva Klopocki and Dobyns, {William B} and Kerstin Kutsche",
year = "2008",
language = "Deutsch",
journal = "NAT GENET",
issn = "1061-4036",
publisher = "NATURE PUBLISHING GROUP",

}

RIS

TY - JOUR

T1 - Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

AU - Najm, Juliane

AU - Horn, Denise

AU - Rau, Isabella

AU - Golden, Jeffrey A

AU - Chizhikov, Victor V

AU - Jyotsna, Sudi

AU - Christian, Susan L

AU - Ullmann, Reinhard

AU - Kuechler, Alma

AU - Haas, Carola A

AU - Flubacher, Armin

AU - Charnas, Lawrence R

AU - Uyanik, Gökhan

AU - Frank, Ulrich

AU - Klopocki, Eva

AU - Dobyns, William B

AU - Kutsche, Kerstin

PY - 2008

Y1 - 2008

N2 - CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN. Here we describe a previously unreported X-linked brain malformation syndrome caused by mutations of CASK. All five affected individuals with CASK mutations had congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia, and severe mental retardation.

AB - CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN. Here we describe a previously unreported X-linked brain malformation syndrome caused by mutations of CASK. All five affected individuals with CASK mutations had congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia, and severe mental retardation.

M3 - SCORING: Zeitschriftenaufsatz

JO - NAT GENET

JF - NAT GENET

SN - 1061-4036

ER -