X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene
Jalkanen, R, Mäntyjärvi, M, Tobias, R, Isosomppi, J, Sankila, E-M, Alitalo, T, Bech-Hansen, N T
Published in Journal of medical genetics (01.08.2006)
Published in Journal of medical genetics (01.08.2006)
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Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3
Joensuu, Tarja, Hämäläinen, Riikka, Yuan, Bo, Johnson, Cheryl, Tegelberg, Saara, Gasparini, Paolo, Zelante, Leopoldo, Pirvola, Ulla, Pakarinen, Leenamaija, Lehesjoki, Anna-Elina, de la Chapelle, Albert, Sankila, Eeva-Marja
Published in American journal of human genetics (01.10.2001)
Published in American journal of human genetics (01.10.2001)
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Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure
Aittomäki, Kristiina, Dieguez Lucena, JoséLuis, Pakarinen, Pirjo, Sistonen, Pertti, Tapanainen, Juha, Gromoll, Jörg, Kaskikari, Riitta, Sankila, Eeva-Marja, Lehväslaiho, Heikki, Reyes Engel, Armando, Nieschlag, Eberhard, Huhtaniemi, Ilpo, de la Chapelle, Albert
Published in Cell (22.09.1995)
Published in Cell (22.09.1995)
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Anti-clarin-1 AAV-delivered ribozyme induced apoptosis in the mouse cochlea
Aarnisalo, A.A., Pietola, L., Joensuu, J., Isosomppi, J., Aarnisalo, P., Dinculescu, A., Lewin, A.S., Flannery, J., Hauswirth, W.W., Sankila, E.-M., Jero, J.
Published in Hearing research (01.08.2007)
Published in Hearing research (01.08.2007)
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Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q
Sankila, E M, Pakarinen, L, Kääriäinen, H, Aittomäki, K, Karjalainen, S, Sistonen, P, de la Chapelle, A
Published in Human molecular genetics (01.01.1995)
Published in Human molecular genetics (01.01.1995)
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Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene
Lauronen, L, Jalkanen, R, Huttunen, J, Carlsson, E, Tuupanen, S, Lindh, S, Forsius, H, Sankila, E-M, Alitalo, T
Published in British journal of ophthalmology (01.07.2005)
Published in British journal of ophthalmology (01.07.2005)
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Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism
Ala-Mello, S, Sankila, E M, Koskimies, O, de la Chapelle, A, Kääriäinen, H
Published in Journal of medical genetics (01.04.1998)
Published in Journal of medical genetics (01.04.1998)
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In vivo confocal microscopy of a family with schnyder crystalline corneal dystrophy
Vesaluoma, Minna H, Linna, Tuuli U, Sankila, Eeva-Marja, Weiss, Jayne S, Tervo, Timo M.T
Published in Ophthalmology (Rochester, Minn.) (01.05.1999)
Published in Ophthalmology (Rochester, Minn.) (01.05.1999)
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Autosomal Recessive Cornea Plana: In Vivo Corneal Morphology and Corneal Sensitivity
Vesaluoma, Minna H, Sankila, Eeva-Marja, Gallar, Juana, Muller, Linda J, Petroll, W. Matthew, Moilanen, Jukka A. O, Forsius, Henrik, Tervo, Timo M. T
Published in Investigative ophthalmology & visual science (01.07.2000)
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Published in Investigative ophthalmology & visual science (01.07.2000)
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Monoamine oxidase deficiency in males with an X chromosome deletion
Sims, K.B., de la Chapelle, A., Norio, R., Sankila, E-M., Hsu, Y.-P.P, Rinehart, W.B., Corey, T.J., Ozelius, L., Powell, J.F., Bruns, G., Gusella, J.F., Murphy, D.L., Breakefield, X.O.
Published in Neuron (Cambridge, Mass.) (1989)
Published in Neuron (Cambridge, Mass.) (1989)
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Marked amine and amine metabolite changes in Norrie disease patients with an X-chromosomal deletion affecting monoamine oxidase
Murphy, D L, Sims, K B, Karoum, F, de la Chapelle, A, Norio, R, Sankila, E M, Breakefield, X O
Published in Journal of neurochemistry (01.01.1990)
Published in Journal of neurochemistry (01.01.1990)
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Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients
van Bokhoven, H, Schwartz, M, Andréasson, S, van den Hurk, J A, Bogerd, L, Jay, M, Rüther, K, Jay, B, Pawlowitzki, I H, Sankila, E M
Published in Human molecular genetics (01.07.1994)
Published in Human molecular genetics (01.07.1994)
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Refined Mapping of the Usher Syndrome Type III Locus on Chromosome 3, Exclusion of Candidate Genes, and Identification of the Putative Mouse Homologous Region
Joensuu, Tarja, Blanco, Gonzalo, Pakarinen, Leenamaija, Sistonen, Pertti, Kääriäinen, Helena, Brown, Steve, Chapelle, Albert de la, Sankila, Eeva-Marja
Published in Genomics (San Diego, Calif.) (15.12.1996)
Published in Genomics (San Diego, Calif.) (15.12.1996)
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Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases
CREMERS, F. P. M, SANKILA, E.-M, DE LA CHAPELLE, A, PAWLOWITZKI, I. H, ROPERS, H.-H, BRUNSMANN, F, JAY, M, JAY, B, WRIGHT, A, PINCKERS, A. J. L. G, SCHWARTZ, M, VAN DE POL, D. J. R, WIERINGA, B
Published in American journal of human genetics (01.10.1990)
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Published in American journal of human genetics (01.10.1990)
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