Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients.

Alexander E Volk; Oliver Carter; Julia Fricke; Peter Herkenrath; Jörg Poggenborg; Guntram Borck; Andre W Demant; Roland Ivo; Peer Eysel; Christian Kubisch; Antje Neugebauer

Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients.

Standard

Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients. / Volk, Alexander E; Carter, Oliver; Fricke, Julia; Herkenrath, Peter; Poggenborg, Jörg; Borck, Guntram; Demant, Andre W; Ivo, Roland; Eysel, Peer; Kubisch, Christian; Neugebauer, Antje.

in: MOL VIS, Jahrgang 17, 2011, S. 1978-1986.

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

Harvard

Volk, AE, Carter, O, Fricke, J, Herkenrath, P, Poggenborg, J, Borck, G, Demant, AW, Ivo, R, Eysel, P, Kubisch, C & Neugebauer, A 2011, 'Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients.', MOL VIS, Jg. 17, S. 1978-1986. <http://www.ncbi.nlm.nih.gov/pubmed/21850172?dopt=Citation>

APA

Volk, A. E., Carter, O., Fricke, J., Herkenrath, P., Poggenborg, J., Borck, G., Demant, A. W., Ivo, R., Eysel, P., Kubisch, C., & Neugebauer, A. (2011). Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients. MOL VIS, 17, 1978-1986. http://www.ncbi.nlm.nih.gov/pubmed/21850172?dopt=Citation

Vancouver

Volk AE, Carter O, Fricke J, Herkenrath P, Poggenborg J, Borck G et al. Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients. MOL VIS. 2011;17:1978-1986.

Bibtex

@article{679121e214eb4172bdddcd1251dfc13d,

title = "Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients.",

abstract = "Clinical and molecular characterization of patients with horizontal gaze palsy with progressive scoliosis (HGPPS) to extend existing knowledge of the phenotype caused by mutations in the Roundabout homolog of Drosophila 3 (ROBO3) gene.",

keywords = "Humans, Male, Female, Adolescent, Child, Magnetic Resonance Imaging, DNA Mutational Analysis, Mutation, Phenotype, Early Diagnosis, Molecular Sequence Data, Base Sequence, Pedigree, Consanguinity, Siblings, Turkey, Receptors, Immunologic/*genetics, Ocular Motility Disorders/complications/diagnosis/*genetics/pathology, Saudi Arabia, Scoliosis/complications/diagnosis/*genetics/pathology, Vision Tests, Humans, Male, Female, Adolescent, Child, Magnetic Resonance Imaging, DNA Mutational Analysis, Mutation, Phenotype, Early Diagnosis, Molecular Sequence Data, Base Sequence, Pedigree, Consanguinity, Siblings, Turkey, Receptors, Immunologic/*genetics, Ocular Motility Disorders/complications/diagnosis/*genetics/pathology, Saudi Arabia, Scoliosis/complications/diagnosis/*genetics/pathology, Vision Tests",

author = "Volk, {Alexander E} and Oliver Carter and Julia Fricke and Peter Herkenrath and J{\"o}rg Poggenborg and Guntram Borck and Demant, {Andre W} and Roland Ivo and Peer Eysel and Christian Kubisch and Antje Neugebauer",

year = "2011",

language = "English",

volume = "17",

pages = "1978--1986",

journal = "MOL VIS",

issn = "1090-0535",

publisher = "Molecular Vision",

}

RIS

TY - JOUR

T1 - Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients.

AU - Volk, Alexander E

AU - Carter, Oliver

AU - Fricke, Julia

AU - Herkenrath, Peter

AU - Poggenborg, Jörg

AU - Borck, Guntram

AU - Demant, Andre W

AU - Ivo, Roland

AU - Eysel, Peer

AU - Kubisch, Christian

AU - Neugebauer, Antje

PY - 2011

Y1 - 2011

N2 - Clinical and molecular characterization of patients with horizontal gaze palsy with progressive scoliosis (HGPPS) to extend existing knowledge of the phenotype caused by mutations in the Roundabout homolog of Drosophila 3 (ROBO3) gene.

AB - Clinical and molecular characterization of patients with horizontal gaze palsy with progressive scoliosis (HGPPS) to extend existing knowledge of the phenotype caused by mutations in the Roundabout homolog of Drosophila 3 (ROBO3) gene.

KW - Humans

KW - Male

KW - Female

KW - Adolescent

KW - Child

KW - Magnetic Resonance Imaging

KW - DNA Mutational Analysis

KW - Mutation

KW - Phenotype

KW - Early Diagnosis

KW - Molecular Sequence Data

KW - Base Sequence

KW - Pedigree

KW - Consanguinity

KW - Siblings

KW - Turkey

KW - Receptors, Immunologic/genetics

KW - Ocular Motility Disorders/complications/diagnosis/genetics/pathology

KW - Saudi Arabia

KW - Scoliosis/complications/diagnosis/genetics/pathology

KW - Vision Tests