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Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders.

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Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders. / Volk, Alexander; Fricke, Julia; Strobl, Judith; Kolling, Gerold; Kubisch, Christian; Neugebauer, Antje.

In: GRAEF ARCH CLIN EXP, Vol. 248, No. 9, 9, 2010, p. 1351-1357.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Volk, A, Fricke, J, Strobl, J, Kolling, G, Kubisch, C & Neugebauer, A 2010, 'Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders.', GRAEF ARCH CLIN EXP, vol. 248, no. 9, 9, pp. 1351-1357. <http://www.ncbi.nlm.nih.gov/pubmed/20535495?dopt=Citation>

APA

Volk, A., Fricke, J., Strobl, J., Kolling, G., Kubisch, C., & Neugebauer, A. (2010). Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders. GRAEF ARCH CLIN EXP, 248(9), 1351-1357. [9]. http://www.ncbi.nlm.nih.gov/pubmed/20535495?dopt=Citation

Vancouver

Volk A, Fricke J, Strobl J, Kolling G, Kubisch C, Neugebauer A. Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders. GRAEF ARCH CLIN EXP. 2010;248(9):1351-1357. 9.

Bibtex

@article{3e2b0ecb0da14984a9955cd6b009d168,
title = "Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders.",
abstract = "Mutations in the gene CHN1 have been described in autosomal dominant Duane's retraction syndrome (DRS) and mutations have been shown to interfere with normal innervation of target eye muscles by oculomotor axons in chick embryos. We screened for CHN1 mutations in patients with various congenital ocular motility disorders.",
keywords = "Adult, Humans, Male, Female, Middle Aged, Adolescent, Child, Child, Preschool, DNA Mutational Analysis, Polymerase Chain Reaction, Genetic Heterogeneity, *Mutation, Transcription Factors/genetics, Chimerin 1/*genetics, Duane Retraction Syndrome/genetics, Ocular Motility Disorders/*genetics, Adult, Humans, Male, Female, Middle Aged, Adolescent, Child, Child, Preschool, DNA Mutational Analysis, Polymerase Chain Reaction, Genetic Heterogeneity, *Mutation, Transcription Factors/genetics, Chimerin 1/*genetics, Duane Retraction Syndrome/genetics, Ocular Motility Disorders/*genetics",
author = "Alexander Volk and Julia Fricke and Judith Strobl and Gerold Kolling and Christian Kubisch and Antje Neugebauer",
year = "2010",
language = "English",
volume = "248",
pages = "1351--1357",
journal = "GRAEF ARCH CLIN EXP",
issn = "0721-832X",
publisher = "Springer",
number = "9",

}

RIS

TY - JOUR

T1 - Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders.

AU - Volk, Alexander

AU - Fricke, Julia

AU - Strobl, Judith

AU - Kolling, Gerold

AU - Kubisch, Christian

AU - Neugebauer, Antje

PY - 2010

Y1 - 2010

N2 - Mutations in the gene CHN1 have been described in autosomal dominant Duane's retraction syndrome (DRS) and mutations have been shown to interfere with normal innervation of target eye muscles by oculomotor axons in chick embryos. We screened for CHN1 mutations in patients with various congenital ocular motility disorders.

AB - Mutations in the gene CHN1 have been described in autosomal dominant Duane's retraction syndrome (DRS) and mutations have been shown to interfere with normal innervation of target eye muscles by oculomotor axons in chick embryos. We screened for CHN1 mutations in patients with various congenital ocular motility disorders.

KW - Adult

KW - Humans

KW - Male

KW - Female

KW - Middle Aged

KW - Adolescent

KW - Child

KW - Child, Preschool

KW - DNA Mutational Analysis

KW - Polymerase Chain Reaction

KW - Genetic Heterogeneity

KW - Mutation

KW - Transcription Factors/genetics

KW - Chimerin 1/genetics

KW - Duane Retraction Syndrome/genetics

KW - Ocular Motility Disorders/genetics

KW - Adult

KW - Humans

KW - Male

KW - Female

KW - Middle Aged

KW - Adolescent

KW - Child

KW - Child, Preschool

KW - DNA Mutational Analysis

KW - Polymerase Chain Reaction

KW - Genetic Heterogeneity

KW - Mutation

KW - Transcription Factors/genetics

KW - Chimerin 1/genetics

KW - Duane Retraction Syndrome/genetics

KW - Ocular Motility Disorders/genetics

M3 - SCORING: Journal article

VL - 248

SP - 1351

EP - 1357

JO - GRAEF ARCH CLIN EXP

JF - GRAEF ARCH CLIN EXP

SN - 0721-832X

IS - 9

M1 - 9

ER -