Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Marie Louise Mølgaard Poulsen"'
Autor:
Marie Louise Mølgaard Poulsen, Patrick Willems, Theresa Larriba Harboe, Cathrine Jespersgaard, Marie Luise Bisgaard, Flemming Brandt Sørensen
Publikováno v:
Harboe, T L, Willems, P, Jespersgaard, C, Poulsen, M L M, Sørensen, F B & Bisgaard, S M L 2011, ' Mosaicism in segmental darier disease: an in-depth molecular analysis quantifying proportions of mutated alleles in various tissues ', Dermatology, bind 222, nr. 4, s. 292-296 . https://doi.org/10.1159/000328404
Harboe, T L, Willems, P, Jespersgaard, C, Poulsen, M L M, Sørensen, F B & Bisgaard, S M L 2011, ' Mosaicism in segmental darier disease: an in-depth molecular analysis quantifying proportions of mutated alleles in various tissues ', Dermatology, vol. 222, no. 4, pp. 292-6 . https://doi.org/10.1159/000328404
Harboe, T L, Willems, P, Jespersgaard, C, Poulsen, M L M, Sørensen, F B & Bisgaard, S M L 2011, ' Mosaicism in segmental darier disease: an in-depth molecular analysis quantifying proportions of mutated alleles in various tissues ', Dermatology, vol. 222, no. 4, pp. 292-6 . https://doi.org/10.1159/000328404
Darier disease is an autosomal dominant genodermatosis caused by germline mutations in the ATP2A2 gene. Clinical expression is variable, including rare segmental phenotypes thought to be caused by postzygotic mosaicism. Genetic counseling of segmenta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60838692bb0afb2c660e45f059f1bd58
https://doi.org/10.1159/000328404
https://doi.org/10.1159/000328404
Autor:
H. de Verneuil, V. Wienert, V. Saada, Paolo Gisondi, Giampiero Girolomoni, Haur Yueh Lee, Patrick Gholam, Gregor B.E. Jemec, C. Ged, A. Langenbruch, T. Hunziker, T. Baumeister, C. Droitcourt, Helena Marzo-Ortega, Katharina Herberger, Alexander Enk, Francesco Del Galdo, Tanja Weberschock, L. Borradori, N. Dietrich, M. Augustin, V. Molinier-Frenkel, Shiva Yazdanyar, J.D. Bouaziz, Ivan Hegyi, M. Cario-André, Marie Louise Mølgaard Poulsen, Luca Borradori, C.F.E. Sänger, Sibel Zehra Aydin, V. von Felbert, P. Morel, Zoe Ash, Cathrine Jespersgaard, M. Bagot, G. Hoffmann, W. Weistenhöfer, M. Battistella, Stephan Jeff Rustenbach, D. Sibon, P.A. de Viragh, Marie Luise Bisgaard, Helmut Beltraminelli, Nikhil Yawalkar, Jacek C Szepietowski, Camilla Dalle Vedove, A. Caudron, N. Pelivani, A. Taïeb, W. Uter, M.A. Radtke, N. Ortonne, Satz Mengensatzproduktion, Matthias Augustin, E. Deslandes, B. Holland, D. Simon, K. Kernland-Lang, F. Guibal, Flemming Brandt Sørensen, D. Touboul, Nedzmidin Pelivani, Dennis McGonagle, A. Osio, J. Colin, Lena Grams, Jurr Boer, Katharina Denk, B. Kütting, Richard J. Wakefield, Gisli Ingvarsson, D. Dartsch, K. Ezzedine, H. Drexler, Theresa Larriba Harboe, C. Leclech, Elmar Schäfer, Paul Emery, C. Lok, Druck Reinhardt Druck Basel, Patrick Willems, Karl-Christian Münter, Wolfgang Tigges, Sebastian Debus
Publikováno v:
Dermatology. 222:381-384
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::29bd26f948cf51ffa5a3cd43c3561d4d
https://doi.org/10.1159/000331443
https://doi.org/10.1159/000331443
Autor:
Carsten Alfred Brandt, Marie Louise Mølgaard Poulsen, Marie Luise Bisgaard, Carsten E. Thomsen, Michael Kosteljanetz, Hans Ulrik Møller, Steen Gimsing
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 13(12)
Purpose: Up to 16% of patients with the hereditary von Hippel-Lindau disease develop endolymphatic sac tumors of the inner ear. Early diagnosis and treatment of endolymphatic sac tumors can prevent audiovestibular morbidity, but optimal endolymphatic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6a932770fef7d0e1b017b80982ccafb
https://pubmed.ncbi.nlm.nih.gov/21912262
https://pubmed.ncbi.nlm.nih.gov/21912262
Publikováno v:
Clinical genetics. 77(1)
von Hippel-Lindau disease (vHL) is a hereditary multisystem cancer syndrome requiring lifelong prophylactic surveillance. Current surveillance recommendations rely on best medical judgement and no evidence of effect exists. We aimed to evaluate the c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::139a0bd20c98ad39a5ec24e4b77b3086
https://pubmed.ncbi.nlm.nih.gov/19863552
https://pubmed.ncbi.nlm.nih.gov/19863552