Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Margareta Damsten"'
Publikováno v:
Acta Ophthalmologica. 68:113-119
Forty-five males and one homozygotic female showing X-chromosomal juvenile retinoschisis were re-investigated in 1987 after an average follow-up study of more than 22 years. Twenty-two of them had been investigated by fundus-photography for at least
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6a6c8afb3f150a3a9d590282cfb9d5d3
https://doi.org/10.1111/j.1755-3768.1990.tb01973.x
https://doi.org/10.1111/j.1755-3768.1990.tb01973.x
Autor:
Sinikka Lindh, Henrik Forsius, Johan Fellman, Margareta Damsten, Aldur W. Eriksson, Esa Tahvanainen
Publikováno v:
Acta Ophthalmologica Scandinavica. 76:196-203
Purpose To review the literature of autosomal recessive cornea plana (RCP) and to perform a clinical and genetic study on this disorder in Finland. The 78 Finnish RCP patients represent the majority of RCP cases worldwide; outside Finland only 35 cas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e3e9544a6597ecac409d5e394a56a79c
https://doi.org/10.1034/j.1600-0420.1998.760215.x
https://doi.org/10.1034/j.1600-0420.1998.760215.x
Autor:
Esa Tahvanainen, Johan Fellman, Juha Kolehmainen, A. de la Chapelle, Margareta Damsten, H. Forsius
Publikováno v:
Journal of Medical Genetics. 33:116-119
Cornea plana congenita is believed to occur in a mild autosomal dominant (CNA1) and a more severe autosomal recessive (CNA2) form. We recently assigned a CNA2 locus to a region on chromosome 12 by linkage analysis. In this study we compared these tra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f94bc07fd3c4ba3320bba6f2eb91c9b
https://doi.org/10.1136/jmg.33.2.116
https://doi.org/10.1136/jmg.33.2.116
Autor:
Jean Weissenbach, E. Karila, Esa Tahvanainen, Margareta Damsten, Pertti Sistonen, Henrik Forsius, Juha Kolehmainen, Albert de la Chapelle
Publikováno v:
Genomics. 30:409-414
We recently assigned a gene for autosomal recessive cornea plana congenita (CNA2; MIM No. 217300) by linkage analysis to the approximately 3-cM interval between markers D12S82 and D12S327. Here, we extended these studies by exploiting the haplotype a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78f9ed922d3f0ce769630126f4fcb408
https://doi.org/10.1006/geno.1995.1258
https://doi.org/10.1006/geno.1995.1258
Autor:
Margareta Damsten, H. Forsius
Publikováno v:
Jinrui idengaku zasshi. The Japanese journal of human genetics. 27(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51ed320644d527b8af5bb2d695341271
https://pubmed.ncbi.nlm.nih.gov/7183803
https://pubmed.ncbi.nlm.nih.gov/7183803
Autor:
Heikki Aurekoski, R.R. Frants, Ahti Tarkkanen, Jussi Kärnä, Margareta Damsten, H. Forsius, Aldur W. Eriksson
Publikováno v:
Acta ophthalmologica. 61(4)
Ninety-two cases of granular corneal dystrophy, most of them belonging to 5 pedigrees are described. The age of manifestation in this Finnish type of granular dystrophy is first in the end of the second decade, and visual acuity is in mean normal thr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d632c1e7dbcb68e11a5695616473a3c6
https://pubmed.ncbi.nlm.nih.gov/6605646
https://pubmed.ncbi.nlm.nih.gov/6605646