Zobrazeno 1 - 10
of 66
pro vyhledávání: '"R Fossdal"'
Autor:
R. Fossdal, Jasper J. Saris, Toshio Mochizuki, S. de Haij, Nadja Bogdanova, Martijn H. Breuning, Barbera Veldhuisen, Dorien J.M. Peters, M. A. van Dijk, David Reynolds, Christine Verellen-Dumoulin, Stefan Somlo, Tomohito Hayashi, S. Nôrby, David Ravine, Eliecer Coto, R. Elles
Publikováno v:
American Journal of Human Genetics, 61(3), 547-555. Cell Press
Recently the second gene for autosomal dominant polycystic kidney disease (ADPKD), located on chromosome 4q21-q22, has been cloned and characterized. The gene encodes an integral membrane protein, polycystin-2, that shows amino acid similarity to the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b28b73d6075f1721b097036ea17a957
https://doi.org/10.1086/515497
https://doi.org/10.1086/515497
Publikováno v:
Laeknabladid. 85(1)
Autosomal dominand polycystic kidney disease (ADPKD) is one of the most common genetic diseases in humans and accounts for 8-10% of end-stage renal failure. The disease is caused by mutations in at least three different genes. About 85% of families w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3915ead809f8231656974dce9f1dbb4d
https://pubmed.ncbi.nlm.nih.gov/19321914
https://pubmed.ncbi.nlm.nih.gov/19321914
Autor:
R Fossdal, G J Arason, S Jónsdóttir, I Skaftadóttir, Kristjan Steinsson, Alfred Arnason, Helga Kristjansdottir
Publikováno v:
Annals of the rheumatic diseases. 57(8)
OBJECTIVE—To perform an exploratory analysis of the relative contribution of single MHC genes to the pathogenesis of systemic lupus erythematosus (SLE) in a homogenous white population. METHODS—MHC class II alleles and C4 allotypes were determine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60ed9137b98433b1434973c26f3bcb6b
https://pubmed.ncbi.nlm.nih.gov/9797559
https://pubmed.ncbi.nlm.nih.gov/9797559
Autor:
K, Steinsson, A, Arnason, K, Erlendsson, R, Fossdal, I, Skaftadóttir, S, Jónsdóttir, M, Fjalarson, J, Thorsteinsson
Publikováno v:
The Journal of rheumatology. 22(10)
In an epidemiological survey of systemic lupus erythematosus (SLE) in Iceland several families with multiple cases were identified. In one family, 35 individuals (family members and spouses) in 3 generations were studied clinically, tested for autoan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::91db37cb10bf777a1ac9334bdd2ac874
https://pubmed.ncbi.nlm.nih.gov/8991982
https://pubmed.ncbi.nlm.nih.gov/8991982
Akademický článek
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Publikováno v:
Immunogenetics. 25:299-304
In this article we present a study showing that the human C4 genes differ in length because of the presence or absence of a 6.5 kb intron near the 5' end of the gene. DNA from individuals of known HLA, factor B, and C4 haplotypes was analyzed for res
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fe1366af9a033faa740ea5cb149192e
https://doi.org/10.1007/bf00404422
https://doi.org/10.1007/bf00404422
Publikováno v:
Journal of medical genetics. 25(4)
A family is reported which includes five males, two with spina bifida, two sibs with anencephaly, and one with both high and low spinal lesions. The affected subjects came from four sibships in three generations. The mode of inheritance of these neur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9dad295ad174c1f0a2f8498cf2e1856
https://pubmed.ncbi.nlm.nih.gov/3285008
https://pubmed.ncbi.nlm.nih.gov/3285008
Publikováno v:
Human Genetics. 76
The gene organization of C4 haplotypes expressing two different C4A allotypes with a C4B null allele (C4A3A2-BQ0 and C4A3A6BQO) was studied using Southern blot analysis with cDNA probes and restriction enzymes which give C4A and C4B locus-specific re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79bef4ec91a4474e15ca671b53e47848
https://doi.org/10.1007/bf00283611
https://doi.org/10.1007/bf00283611
Akademický článek
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