Výsledky vyhledávání - "L, Huopaniemi"

Skewed secondary sex ratio in the offspring of carriers of the 214GA mutation of the RS1 gene

Autor: L, Huopaniemi, J, Fellman, A, Rantala, A, Eriksson, H, Forsius, A, De La Chapelle, T, Alitalo

Publikováno v: Annals of human genetics. 63(Pt 6)

Carriers of X-linked juvenile retinoschisis (RS) were previously suggested to give birth to an excess of boys. We determined the carrier status for the 214GA mutation of the RS1 gene in 202 females belonging to a large RS founder pedigree. The second

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::35e0f8668cdef80b7730b934b7be222c
https://pubmed.ncbi.nlm.nih.gov/11246454

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

Autor: Caraline L. Coats, André Hanauer, Ulrich Kellner, E.J.M. Schuurman, Niklas Dahl, Beate Niesler, N. Tijmes, Susannah M. Walpole, Ute Schulz, Anne Rantala, S.A. Gaythor, A.M. Bardelli, Eugenio Montini, G.J.B. van Ommen, Christina L. McHenry, C. Oudet, A. Blankenagel, J.E. Richards, H.G. Brunner, Andrea Ballabio, E. van de Vosse, P.T.V.M. de Jong, J.T. Dendunnen, Carmen Ayuso, E.L. Bingham, L Huopaniemi, Gudrun A. Rappold, K. Ruether, Thomas Rosenberg, Vera M. Kalscheuer, V. Ventruto, Paul A. Sieving, Arthur A.B. Bergen, Hanno J. Bolz, Ulrike Orth, T. Kraayenbrink, D. Pimenides, M.J. van Schooneveld, Andreas Gal, Alan F. Wright, N.D.L. George, Grazia Andolfi, F.J. Diaz, Brunella Franco, H.H. Ropers, Silke Feil, John R.W. Yates, Wolfgang Berger, Tiina Alitalo, Alfred J. L. G. Pinckers, A. dela Chapelle, U.T. Moore, J. Kaplan, Dorothy Trump, Steffen Lenzner, Pierre Bitoun, A. Nicolaou, K.T. Hiriyana, Hemant Pawar, T. Darga, J.B. ten Brink

Publikováno v: Human molecular genetics, 7(7), 1185-1192. Oxford University Press
Human Molecular Genetics, 7(7), 1185-1192. Oxford University Press

X-linked retinoschisis (XLRS) is the most common cause of juvenile macular degeneration in males, resulting in vision loss early in life. The gene involved in XLRS was identified recently. It encodes a protein with a disoidin domain, suggested to be

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5f0fd99a148b526ec431d89cab82bed
https://pure.amc.nl/en/publications/functional-implications-of-the-spectrum-of-mutations-found-in-234-cases-with-xlinked-juvenile-retinoschisis-xlrs(1e0da310-81f1-413d-914c-b73a21b1a089).html

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Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis

Autor: L, Huopaniemi, A, Rantala, E, Tahvanainen, A, de la Chapelle, T, Alitalo

Publikováno v: American journal of human genetics. 60(5)

X-linked juvenile retinoschisis (RS) is a recessively inherited disorder resulting in poor visual acuity. Affected males typically show retinal degeneration and intraretinal splitting. The prevalence of RS is 1:15,000-1:30,000. Elsewhere we have mapp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2f90ce9a4f8d5aa029084699a3366ae1
https://pubmed.ncbi.nlm.nih.gov/9150161

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