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DC Field | Value | Language |
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dc.contributor.author | Tarpey, P. | en |
dc.contributor.author | Thomas, S. | en |
dc.contributor.author | Sarvananthan, N. | en |
dc.contributor.author | Mallya, U. | en |
dc.contributor.author | Lisgo, S. | en |
dc.contributor.author | Talbot, C. J. | en |
dc.contributor.author | Roberts, E. O. | en |
dc.contributor.author | Awan, M. | en |
dc.contributor.author | Surendran, M. | en |
dc.contributor.author | McLean, R. J. | en |
dc.contributor.author | Reinecke, R. D. | en |
dc.contributor.author | Langmann, A. | en |
dc.contributor.author | Lindner, S. | en |
dc.contributor.author | Koch, M. | en |
dc.contributor.author | Jain, S. | en |
dc.contributor.author | Woodruff, G. | en |
dc.contributor.author | Gale, R. P. | en |
dc.contributor.author | Bastawrous, A. | en |
dc.contributor.author | Degg, C. | en |
dc.contributor.author | Droutsas, K. | en |
dc.contributor.author | Asproudis, I. | en |
dc.contributor.author | Zubcov, A. A. | en |
dc.contributor.author | Pieh, C. | en |
dc.contributor.author | Veal, C. D. | en |
dc.contributor.author | Machado, R. D. | en |
dc.contributor.author | Backhouse, O. C. | en |
dc.contributor.author | Baumber, L. | en |
dc.contributor.author | Constantinescu, C. S. | en |
dc.contributor.author | Brodsky, M. C. | en |
dc.contributor.author | Hunter, D. G. | en |
dc.contributor.author | Hertle, R. W. | en |
dc.contributor.author | Read, R. J. | en |
dc.contributor.author | Edkins, S. | en |
dc.contributor.author | O'Meara, S. | en |
dc.contributor.author | Parker, A. | en |
dc.contributor.author | Stevens, C. | en |
dc.contributor.author | Teague, J. | en |
dc.contributor.author | Wooster, R. | en |
dc.contributor.author | Futreal, P. A. | en |
dc.contributor.author | Trembath, R. C. | en |
dc.contributor.author | Stratton, M. R. | en |
dc.contributor.author | Raymond, F. L. | en |
dc.contributor.author | Gottlob, I. | en |
dc.date.accessioned | 2015-11-24T19:02:53Z | - |
dc.date.available | 2015-11-24T19:02:53Z | - |
dc.identifier.issn | 1061-4036 | - |
dc.identifier.uri | https://olympias.lib.uoi.gr/jspui/handle/123456789/19844 | - |
dc.rights | Default Licence | - |
dc.subject | Brain/embryology/metabolism | en |
dc.subject | Chromosome Mapping | en |
dc.subject | Chromosomes, Human, X | en |
dc.subject | Cytoskeletal Proteins/*genetics/physiology | en |
dc.subject | Eye Movements/genetics/physiology | en |
dc.subject | Female | en |
dc.subject | Gene Expression Regulation, Developmental | en |
dc.subject | *Genes, X-Linked | en |
dc.subject | Genetic Linkage | en |
dc.subject | Humans | en |
dc.subject | Male | en |
dc.subject | Membrane Proteins/*genetics/physiology | en |
dc.subject | Mutation/physiology | en |
dc.subject | Nystagmus, Congenital/*genetics | en |
dc.subject | Pedigree | en |
dc.subject | Retina/metabolism | en |
dc.title | Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus | en |
heal.type | journalArticle | - |
heal.type.en | Journal article | en |
heal.type.el | Άρθρο Περιοδικού | el |
heal.identifier.primary | 10.1038/ng1893 | - |
heal.identifier.secondary | http://www.ncbi.nlm.nih.gov/pubmed/17013395 | - |
heal.language | en | - |
heal.access | campus | - |
heal.recordProvider | Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής | el |
heal.publicationDate | 2006 | - |
heal.abstract | Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability. | en |
heal.journalName | Nat Genet | en |
heal.journalType | peer-reviewed | - |
heal.fullTextAvailability | TRUE | - |
Appears in Collections: | Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά) - ΙΑΤ |
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