19892014
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Publications 1989 2014

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2014

Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype

Recher, M., Karjalainen-Lindsberg, M-L., Lindlof, M., Söderlund-Venermo, M., Lanzi, G., Vaisanen, E., Kumar, A., Sadeghi, M., Berger, C. T., Alitalo, T., Anttila, P., Kolehmainen, M., Franssila, R., Chen, T., Siitonen, S., Delmonte, O. M., Walter, J. E., Pessach, I., Hess, C., Simpson, M. A. & 5 others, Navarini, A. A., Giliani, S., Hedman, K., Seppanen, M. & Notarangelo, L. D., May 2014, In : Journal of Allergy and Clinical Immunology. 133, 5, p. 1462-U382 9 p.

Research output: Contribution to journalArticleScientificpeer-review

2006

Genetic background of HSH in three Polish families and a patient with an X;9 translocation

Jalkanen, R., Pronicka, E., Tyynismaa, H., Hanauer, A., Walder, R. & Alitalo, T., 2006, In : European Journal of Human Genetics. 14, p. 55-62 8 p.

Research output: Contribution to journalArticleScientificpeer-review

2003

A new genetic locus for X linked progressive cone-rod dystrophy

Jalkanen, R., Demirci, F. Y., Tyynismaa, H., Bech-Hansen, T., Meindl, A., Peippo, M., Mantyjarvi, M., Gorin, M. B. & Alitalo, T., 2003, In : Journal of Medical Genetics. 40, p. 418-423 6 p.

Research output: Contribution to journalArticleScientificpeer-review

2002

A locus for autosomal dominant keratoconus: Linkage to 16q22.3-q23.1 in Finnish families

Tyynismaa, H., Sistonen, P., Tuupanen, S., Tervo, T., Dammert, A., Latvala, T. & Alitalo, T., 2002, In : Investigative Ophthalmology & Visual Science. 43, p. 3160-3164 5 p.

Research output: Contribution to journalArticleScientificpeer-review

2000

Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families

Huopaniemi, L., Tyynismaa, H., Rantala, A., Rosenberg, T. & Alitalo, T., 2000, In : Human Mutation. 16, p. 307-314 8 p.

Research output: Contribution to journalArticleScientificpeer-review

1999

Identification of sixteen new PHEX gene mutations in Finnish patients with linked hypophosphatemic rickets.

Tyynismaa, H., Kaitila, I. & Alitalo, T., 1999, In : American Journal of Human Genetics. 65, p. 494-494 1 p.

Research output: Contribution to journalArticleScientificpeer-review

Skewed secondary sex ratio in the offspring of carriers of the 214G>A mutation of the RS1 gene

Huopaniemi, L., Fellman, J., Rantala, A., Eriksson, A., Forsius, H., Chapelle, A. D. L. & Alitalo, T., 1999, In : Annals of Human Genetics. 63, p. 521-533 13 p.

Research output: Contribution to journalArticleScientificpeer-review

Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland

Huopaniemi, L., Rantala, A., Forsius, H., Somer, M., de la Chapelle, A. & Alitalo, T., 1999, In : European Journal of Human Genetics. 7, p. 368-376 9 p.

Research output: Contribution to journalArticleScientificpeer-review

1998

Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)

den Dunnen, J. T., Kraayenbrink, T., van Schooneveld, M., van de Vosse, E., de Jong, P. T. V. M., ten Brink, J. B., Schuurman, E., Tijmes, N., van Ommen, G. J. B., Bergen, A. A. B., Andolfi, G., Montini, E., Li, Y., Oudet, C., Bolz, H., Kaplan, J., Orth, U., Gal, A., Hanauer, A., Bardelli, A. M. & 31 others, Ayuso, C., Diaz, F. J., Bitoun, P., Ventruto, V., Ballabio, A., Franco, B., Hiriyanna, K. T., Bingham, E. L., McHenry, C., Pawar, H., Coats, C., Darga, T., Richards, J. E., Sieving, P. A., Huopaniemi, L., Rantala, A., Rosenberg, T., Dahl, N., Wright, A., de la Chapelle, A., Alitalo, T., Lenzner, S., Brunner, B., Feil, S., Niesler, B., Schulz, U., Pinckers, A., Blankennagel, A., Ruether, K., Kellner, U. & Retinoschisis Consortium, 1998, In : Human Molecular Genetics. 7, p. 1185-1192 8 p.

Research output: Contribution to journalArticleScientificpeer-review

1997

Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis

Huopaniemi, L., Rantala, A., Tahvanainen, E., delaChapelle, A. & Alitalo, T., 1997, In : American Journal of Human Genetics. 60, p. 1139-1149 11 p.

Research output: Contribution to journalArticleScientificpeer-review

1995

A 6-Mb YAC contig in Xp22.1-p22.2 spanning the DXS69E, XE59, GLRA2, PIGA, GRPR, CALB3, and PHKA2 genes

Alitalo, T., Francis, F., Kere, J., Lehrach, H., Schlessinger, D. & Willard, H., 1995, In : Genomics. 1995, 26, p. 691-700

Research output: Contribution to journalArticleScientificpeer-review

1989

THE GENE ENCODING HUMAN LOW-MOLECULAR WEIGHT INSULIN-LIKE GROWTH-FACTOR BINDING-PROTEIN (IGF-BP25) - REGIONAL LOCALIZATION TO 7P12-P13 AND DESCRIPTION OF A DNA POLYMORPHISM

Alitalo, T., Kontula, K., Koistinen, R., Aalto-Setälä, K., Julkunen, M., Jänne, O. A., Seppälä, M. & de la Chapelle, A., 1989, In : Human Genetics. 83, p. 335-338 4 p.

Research output: Contribution to journalArticleScientificpeer-review