Zobrazeno 1 - 10
of 54
pro vyhledávání: '"T M, Strom"'
Autor:
Christian Staufner, Slama A, Agnieszka Nadel, von Kleist-Retzow J, Mayr H, Thomas Meitinger, Ines F. Scheller, Loipfinger S, Peter Freisinger, Christina Ludwig, Kei Murayama, Smirnov D, Bucher M, Felix Distelmaier, Nasca A, Chen Meng, René Santer, Kulterer L, Sarah L. Stenton, Yepez, Jürgen Behr, Akira Ohtake, Maja Hempel, T. M. Strom, Metodi D. Metodiev, Saskia B. Wortmann, Christian Mertes, Mirjana Gusic, Holger Prokisch, Baski R, Dorota Piekutowska-Abramczuk, Verloo P, Riccardo Berutti, Rikke Katrine Jentoft Olsen, Robert Kopajtich, Daniele Ghezzi, Costanza Lamperti, Detlev Schindler, Julien Gagneur, Yasushi Okazaki, Roetig A
By lack of functional evidence, genome-based diagnostic rates cap at approximately 50% across diverse Mendelian diseases. Here, we demonstrate the effectiveness of combining genomics, transcriptomics, and, for the first time, proteomics and phenotypi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ebb00b9f36f99cf158fd26b59438d08d
https://doi.org/10.1101/2021.03.09.21253187
https://doi.org/10.1101/2021.03.09.21253187
Autor:
Massimo Saini, Laura Eichelberger, Gunnar Schotta, Simon Haas, Christina Scheel, Helena Dominguez Moreno, Melanie Koenigshoff, Manuel Reitberger, T. M. Strom, Marc Suetterlin, Corinna Klein, Vanessa Vogel, Martin R. Sprick, Saskia Spaich, Nicole Pfarr, Andreas Trumpp, Thomas Schwarzmayr, Elisabeth Graf, Elisa Espinet, Johanna M Bartsch, Andreas Schneeweiss, Wilko Weichert, Mattia Falcone, Mareike Lehmann, Elisa Donato, Roberto Wuerth
Despite important advances in the treatment of breast cancer, the 5-year survival rate for patients with distant metastasis remains less than 30%. Metastasis is a complex, multi-step process beginning with local invasion and ending with the outgrowth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f87c5f506901cbaf1811f0c55058dc0b
Autor:
Elisabeth Graf, J. Hoover, D. Hendig, T. M. Strom, J. Alanay, Muhammad Umair, Gerda Rudolph, Heinrich Schmidt, G. Eckstein, Thomas Meitinger, Wasim Ahmad
Publikováno v:
Clin. Genet. 93, 913-918 (2017)
Spondyloocular syndrome (SOS) is a rare autosomal recessive skeletal disorder. Two recent studies have shown that it is the result of biallelic sequence variants in the XYLT2 gene with pleiotropic effects in multiple organs including retina, heart mu
Autor:
Thomas Meitinger, T. M. Strom, Katharina Danhauser, Diran Herebian, Ivo Barić, Felix Distelmaier, Johannes A. Mayr, Ewa Pronicka, Thomas Klopstock, Holger Prokisch, Tobias B. Haack, W. Müller-Felber, Laura Kremer, Ertan Mayatepek
Publikováno v:
Neuropediatrics. 48:S1-S45
Autor:
Jessika Johannsen, Maja Hempel, C. Kubisch, T. M. Strom, René Santer, Jonas Denecke, S. Lüttgen, Tobias B. Haack, Davor Lessel, Katja Kloth, Axel Neu, E. Mahler
Publikováno v:
Neuropediatrics. 48:S1-S45
Autor:
Fritz Zimprich, Christoph Hotzy, Tobias B. Haack, Matias Wagner, Gudrun Zulehner, Martin Krenn, Alexander Zimprich, Elisabeth Stögmann, T. M. Strom, Jakob Rath
Publikováno v:
European Journal of Neurology. 24:741-747
Background and purpose Hereditary spastic paraplegia is a clinically and genetically heterogeneous group of rare, inherited disorders causing an upper motor neuron syndrome with (complex) or without (pure) additional neurological symptoms. Mutations
Autor:
G. Rogler, A. Daryadel, Isabel Rubio Aliaga, S. Diener, Pilar Ruiz, Rocío Fuente Pérez, I. Frey Wagner, Sibylle Sabrautzki, Carla Bettoni, E. M. Pastor Arroyo, B. Lorenz Depiereux, T. M. Strom, M. Hrabe de Angelis, Fernando Santos Rodríguez, M. Ugrica, N. Gehring, D. Stojanovic, Helena Gil Peña, Bernhard Michalke, Carsten A. Wagner
Publikováno v:
Acta Physiologica. 227
Publikováno v:
Nervenheilkunde.
Autor:
Humberto García-Ortiz, Loos R, Frederick E. Dewey, Farook Thameem, John C. Chambers, Mi Yeong Hwang, Nancy L. Heard-Costa, Danish Saleheen, Shuai Wang, Morris Ad, Josep M. Mercader, Noël P. Burtt, Laura J. Scott, Torben Hansen, Mark I. McCarthy, Clicerio Gonzalez, Matsuo K, Mark Seielstad, Marijana Vujkovic, Teresa Tusié-Luna, Alanna C. Morrison, Christian Gieger, Dana Dabelea, Colm O'Dushlaine, Niels Grarup, Elvia Mendoza-Caamal, Amanda F. Elliott, Ryan P. Welch, Craig L. Hanis, Kirchner Hl, Song Chen, Jennifer A. Brody, Maria L. Cortes, Asif Rasheed, Russel Tracy, Nancy J. Cox, Miriam S. Udler, Myron D. Gross, Donald W. Bowden, Oluf Pedersen, Marit E. Jørgensen, J. Tuomilehto, Yik Ying Teo, Andrew P. Morris, Zeitler P, T. M. Strom, Aris Baras, Colin N. A. Palmer, Shin Yc, Johanna Kuusisto, Lin Chen, Donna M. Lehman, Edmund Chan, Heikki A. Koistinen, Anthony Marcketta, Boehnke M, Francis S. Collins, Rayner Nw, Leslie A. Lange, Nir Barzilai, Brian E. Henderson, Jennifer Wessel, David J. Carey, Jaspal S. Kooner, Ralph A. DeFronzo, Anthony Payne, Carlos A. Aguilar-Salinas, Tien Yin Wong, Thomas Meitinger, Lyssenko, Claudia Ht Tam, Cristina Revilla-Monsalve, Daniel R. Witte, Jerome I. Rotter, Michael Preuss, Allan Linneberg, Jose C. Florez, Alisa K. Manning, Gonçalo R. Abecasis, Hyun Min Kang, van Dam Rm, Jason M. Torres, Anubha Mahajan, Claudia Schurmann, Markku Laakso, Leif Groop, Lori L. Bonnycastle, Sohee Han, Jason Flannick, Bong-Jo Kim, Lawrence M. Dolan, Brian Burke, Ma Elena Gonzalez, Kerrin S. Small, Ching-Ti Liu, Ronald C.W. Ma, Peter M. Nilsson, Eric Boerwinkle, Garay-Sevilla Me, Ravindranath Duggirala, Anne Ndungu, Cecilia Contreras-Cubas, Wendy S. Post, Tanya M. Teslovich, Brian Tomlinson, Kimberly L. Drews, Lizz Caulkins, Lee J, Philippe M. Frossard, Jianjun Liu, Hanks S, Ki-Sun Park, Tai Es, Kelsey M, S. Gabriel, Erwin P. Bottinger, Alexander P. Reiner, Tim D. Spector, Lorena Orozco, James S. Pankow, Juliana C.N. Chan, Wing-Yee So, Tiinamaija Tuomi, Malacara-Hernandez Jm, Karen L. Mohlke, S. S. Rich, de Vries Ps, Konstantin Strauch, Graeme I. Bell, Angélica Martínez-Hernández, Elizabeth J. Mayer-Davis, Thomas W. Blackwell, Heather M. Stringham, Bruce M. Psaty, Soo Heon Kwak, Catherine Pihoker, James S. Floyd, Christian Fuchsberger, Ching-Yu Cheng, Neil R. Robertson, Adolfo Correa, James G. Wilson, Ramachandran S. Vasan, Robert Sladek, James B. Meigs, Benjamin Glaser, Gil Atzmon, David Altshuler, Josée Dupuis, Xueling Sim, John Blangero, Emilio J. Cordova, C.J. O'Donnell, Maggie C.Y. Ng, Heckbert, Young-Jin Kim, Joseph B. Leader, Anne U. Jackson, Ryan Koesterer, Nicola Santoro, Christopher A. Haiman
Protein-coding genetic variants that strongly affect disease risk can provide important clues into disease pathogenesis. Here we report an exome sequence analysis of 20,791 type 2 diabetes (T2D) cases and 24,440 controls from five ancestries. We iden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7772bf67b60c38438ff7f4b6fdf05c9
Autor:
Martin Lammens, Matthias C. Braunisch, H. Gallwitz, Thomas Meitinger, Sabine Rudnik-Schöneborn, Elke Holinski-Feder, L. Van Maldergem, Bader Alhaddad, Reka Kovacs-Nagy, Angela Abicht, Tobias B. Haack, T. M. Strom, Jan Senderek, I. Diebold
Publikováno v:
Clinical genetics
Biallelic mutations in SLC25A46, encoding a modified solute transporter involved in mitochondrial dynamics, have been identified in a wide range of conditions such as hereditary motor and sensory neuropathy with optic atrophy type VIB (OMIM: *610826)