Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz

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Publikationen

Suchbegriffe: FRMD7, . Treffer: 3

2011

Thomas, MG; Crosier, M; Lindsay, S; Kumar, A; Thomas, S; Araki, M; Talbot, CJ; McLean, RJ; Surendran, M; Taylor, K; Leroy, BP; Moore, AT; Hunter, DG; Hertle, RW; Tarpey, P; Langmann, A; Lindner, S; Brandner, M; Gottlob, I The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.
Brain. 2011; 134(Pt 3):892-902 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

2008

Thomas, S; Proudlock, FA; Sarvananthan, N; Roberts, EO; Awan, M; McLean, R; Surendran, M; Kumar, ASA; Farooq, SJ; Degg, C; Gale, RP; Reinecke, RD; Woodruff, G; Langmann, A; Lindner, S; Jain, S; Tarpey, P; Raymond, FL; Gottlob, I Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7.
Brain. 2008; 131(Pt 5):1259-1267 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

2006

Tarpey, P; Thomas, S; Sarvananthan, N; Mallya, U; Lisgo, S; Talbot, CJ; Roberts, EO; Awan, M; Surendran, M; McLean, RJ; Reinecke, RD; Langmann, A; Lindner, S; Koch, M; Jain, S; Woodruff, G; Gale, RP; Degg, C; Droutsas, K; Asproudis, I; Zubcov, AA; Pieh, C; Veal, CD; Machado, RD; Backhouse, OC; Baumber, L; Constantinescu, CS; Brodsky, MC; Hunter, DG; Hertle, RW; Read, RJ; Edkins, S; O'Meara, S; Parker, A; Stevens, C; Teague, J; Wooster, R; Futreal, PA; Trembath, RC; Stratton, MR; Raymond, FL; Gottlob, I Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.
NAT GENET. 2006; 38(11): 1242-1244. [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

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