Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Marion Mandl"'
Autor:
Martina Kadmon, Waltraut Friedl, Reiner Caspari, Christof Lamberti, Marlies Sengteller, Marion Mandl, Torsten Böker, Valerie Bruch, Peter Propping
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::70f99abd1f88baf4958c3ea4bd585f82
https://doi.org/10.1159/000425557
https://doi.org/10.1159/000425557
Autor:
K-W. Ecker, G. Timmermanns, Gabriela Möslein, M. Kadmon, Waltraut Friedl, Reiner Caspari, D. Kreiβler-Haag, Marion Mandl, K-H. Jacobasch, Peter Propping, Michael Knapp
Publikováno v:
The Lancet. 343:629-632
The clinical course of familial adenomatous polyposis (FAP) varies considerably between patients. Prediction of the severity of the disease is important in the interest of effective cancer prevention. We examined whether age at diagnosis of FAP due t
Autor:
Marion Mandl, Marlies Sengteller, Reiner Caspari, Waltraut Friedl, Peter Propping, Martina Kadmon
Publikováno v:
Human Molecular Genetics. 3:1009-1011
Autor:
Marlies Sengteller, Reiner Caspari, Anna Jauch, Thorsten Böker, Peter Propping, Heidrun Raschke, Marion Mandl, Waltraut Friedl
Publikováno v:
Human genetics. 97(2)
Cytogenetically visible deletions that include the adenomatosis polyposis coli (APC) locus have repeatedly been reported in mentally handicapped polyposis patients. We report on a family with a submicroscopic deletion of about 200 kb including more t
Autor:
Albert J. Augustin, Martina Kadmon, Gabriela Möslein, Reiner Caspari, Cécile Boisson, Waltraut Friedl, Marion Mandl, Gilles Thomas, Sylciane Olschwang, Peter Propping, Thorsten Böker
Publikováno v:
Human molecular genetics. 4(3)
An earlier study has shown that FAP patients with mutations in codons 136-302 of the APC gene do not develop congenital hypertrophy of the retinal pigment epithelium (CHRPE), whereas those with mutations in codons 463-1387 regularly do. Here we prese
Autor:
Ralner Paffenholz, Waltraut Friedl, Marion Mandl, Peter Propping, Reiner Caspari, Marlies Sengteller
Publikováno v:
Human molecular genetics. 3(9)
Publikováno v:
Human Molecular Genetics. 2:1481-1482