Results 191 to 200 of about 13,191,301 (426)
PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases
Human Mutation, 2015 The discovery of disease‐causing mutations typically requires confirmation of the variant or gene in multiple unrelated individuals, and a large number of rare genetic diseases remain unsolved due to difficulty identifying second families.Orion J. Buske, M. Gîrdea, Sergiu Dumitriu, Bailey Gallinger, T. Hartley, Heather P Trang, A. Misyura, Tal Friedman, C. Beaulieu, W. Bone, Amanda E Links, N. Washington, M. Haendel, Peter N. Robinson, C. Boerkoel, D. Adams, W. Gahl, K. Boycott, M. Brudno +18 moresemanticscholar +1 more sourceKRAS and GNAS mutations in cell‐free DNA and in circulating epithelial cells in patients with intraductal papillary mucinous neoplasms—an observational pilot study
Molecular Oncology, EarlyView.This study demonstrates that KRAS and GNAS mutations are more prevalent in patients with resected intraductal papillary mucinous neoplasms (IPMN) compared to those under clinical surveillance. GNAS mutations significantly differ between the two patient cohorts, indicating that their absence may serve as a potential biomarker to support conservative ...Christine Nitschke, Marie Tölle, Philipp Walter, Kira Meißner, Mara Goetz, Jolanthe Kropidlowski, Andreas W. Berger, Jakob R. Izbicki, Felix Nickel, Thilo Hackert, Klaus Pantel, Harriet Wikman, Faik G. Uzunoglu +12 morewiley +1 more sourceGenetic diseases and molecular genetics [PDF]
Nephrology Dialysis Transplantation, 2013 C. Legendre, D. Cohen, Y. Delmas, T. Feldkamp, D. Fouque, R. Furman, O. Gaber, L. Greenbaum, T. Goodship, H. Haller, M. Herthelius, M. Hourmant, C. Licht, B. Moulin, N. Sheerin, A. Trivelli, C. L. Bedrosian, C. Loirat, C. Legendre, S. Babu, D. Cohen, Y. Delmas, R. Furman, O. Gaber, L. Greenbaum, M. Hourmant, T. Jungraithmayr, Y. Lebranchu, M. Riedl, N. Sheerin, C. L. Bedrosian, C. Loirat, N. Sheerin, C. Legendre, L. Greenbaum, R. Furman, D. Cohen, A. O. Gaber, C. Bedrosian, C. Loirat, H. Haller, C. Licht, P. Muus, C. Legendre, K. Douglas, M. Hourmant, M. Herthelius, A. Trivelli, T. Goodship, G. Remuzzi, C. Bedrosian, C. Loirat, A. Kourouklaris, K. Ioannou, I. Athanasiou, K. Demetriou, A. Panagidou, M. Zavros, N. Y. Rodriguez C, M. Blasco, C. Arcal, L. F. Quintana, S. Rodriguez de Cordoba, J. M. Campistol, N. Bachmann, T. Eisenberger, C. Decker, H. J. Bolz, C. Bergmann, F. Pesce, S. N. Cox, G. Serino, G. De Palma, F. P. Sallustio, F. Schena, M. Falchi, M. Pieri, C. Stefanou, A. Zaravinos, K. Erguler, G. Lapathitis, H. Dweep, C. Sticht, N. Anastasiadou, I. Zouvani, K. Voskarides, N. Gretz, C. C. Deltas, A. Ruiz, O. Bonny, F. Sallustio, G. Serino, C. Curci, S. Cox, G. De Palma, F. Schena, E. Kemter, S. Sklenak, B. Aigner, R. Wanke, T. M. Kitzler, J. L. Moskowitz, S. E. Piret, K. Lhotta, A. Tashman, E. Velez, R. V. Thakker, P. Kotanko, J. Leierer, M. Rudnicki, P. Perco, C. Koppelstaetter, G. Mayer, M. J. N. Sa, S. Alves, H. Storey, F. Flinter, P. J. Willems, F. Carvalho, J. Oliveira, M. Arsali, L. Papazachariou, P. Demosthenous, A. Lazarou, M. Hadjigavriel, C. Stavrou, L. Yioukkas, K. Voskarides, C. Deltas, M. Zavros, A. Pierides, M. Arsali, P. Demosthenous, L. Papazachariou, K. Voskarides, M. Kkolou, M. Hadjigavriel, M. Zavros, C. Deltas, A. Pierides, H. R. Toka, S. Dibartolo, B. Lanske, E. M. Brown, M. R. Pollak, A. Familiari, B. Zavan, S. Sanna Cherchi, A. Fabris, R. Cristofaro, G. Gambaro, A. D'Angelo, F. Anglani, H. Toka, D. Mount, M. Pollak, G. Curhan, G. Sengoge, T. Bajari, A. Kupczok, A. von Haeseler, M. Schuster, W. Pfaller, P. Jennings, A. Weltermann, S. Blake, G. Sunder-Plassmann, A. Kerti, R. Csohany, L. Wagner, E. Javorszky, E. Maka, T. Tulassay, K. Tory, J. Kingswood, N. Nikolskaya, J. Mbundi, J. Kingswood, S. Jozwiak, E. Belousova, M. Frost, R. Kuperman, M. Bebin, B. Korf, R. Flamini, M. Kohrman, S. Sparagana, J. Wu, T. Brechenmacher, K. Stein, J. Bissler, D. Franz, J. Kingswood, B. Zonnenberg, M. Frost, W. Cheung, J. Wang, T. Brechenmacher, D. Lam, J. Bissler +199 moreopenaire +4 more sourcesWhole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
Genetics in Medicine, 2015 Purpose:Despite the recognized clinical value of exome-based diagnostics, methods for comprehensive genomic interpretation remain immature. Diagnoses are based on known or presumed pathogenic variants in genes already associated with a similar phenotype. Xiaoling Zhu, S. Petrovski, S. Petrovski, Pingxing Xie, Pingxing Xie, E. Ruzzo, Yi-Fan Lu, K. M. McSweeney, B. Ben-Zeev, B. Ben-Zeev, A. Nissenkorn, A. Nissenkorn, Y. Anikster, Y. Anikster, D. Oz-Levi, R. Dhindsa, Y. Hitomi, Y. Hitomi, K. Schoch, Rebecca C. Spillmann, G. Heimer, D. Marek‐Yagel, M. Tzadok, M. Tzadok, Yujun Han, G. Worley, J. Goldstein, Yong-hui Jiang, D. Lancet, E. Pras, V. Shashi, D. Mchale, A. Need, A. Need, D. Goldstein +34 moresemanticscholar +1 more sourceCellular liquid biopsy provides unique chances for disease monitoring, preclinical model generation and therapy adjustment in rare salivary gland cancer patients
Molecular Oncology, EarlyView.We quantified and cultured circulating tumor cells (CTCs) of 62 patients with various cancer types and generated CTC‐derived tumoroid models from two salivary gland cancer patients. Cellular liquid biopsy‐derived information enabled molecular genetic assessment of systemic disease heterogeneity and functional testing for therapy selection in both ...Nataša Stojanović Gužvić, Florian Lüke, Steffi Treitschke, Andrea Coluccio, Martin Hoffmann, Giancarlo Feliciello, Adithi Ravikumar Varadarajan, Xin Lu, Kathrin Weidele, Catherine Botteron, Silvia Materna–Reichelt, Felix Keil, Katja Evert, Florian Weber, Thomas Schamberger, Michael Althammer, Jirka Grosse, Dirk Hellwig, Christian Schulz, Stephan Seitz, Peter Ugocsai, Anke Schlenska‐Lange, Roman Mayr, Ulrich Kaiser, Wolfgang Dietmaier, Bernhard Polzer, Jens Warfsmann, Kamran Honarnejad, Tobias Pukrop, Daniel Heudobler, Christoph A. Klein, Christian Werno +31 morewiley +1 more source
