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Material Type: Artigo
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Essential Pieces to the Genetics PuzzleTam, AllisonThe Pediatric clinics of North America, 2023-10, Vol.70 (5), p.1047-1056 [Periódico revisado por pares]Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal DiseaseStone, Edwin M., MD, PhD ; Andorf, Jeaneen L., BA ; Whitmore, S. Scott, PhD ; DeLuca, Adam P., PhD ; Giacalone, Joseph C., BS ; Streb, Luan M., BA ; Braun, Terry A., PhD ; Mullins, Robert F., PhD ; Scheetz, Todd E., PhD ; Sheffield, Val C., MD, PhD ; Tucker, Budd A., PhDOphthalmology (Rochester, Minn.), 2017-09, Vol.124 (9), p.1314-1331 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Family Health HistoryBennett, Robin L., MS, CGCThe Medical clinics of North America, 2019-11, Vol.103 (6), p.957-966 [Periódico revisado por pares]Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Germline Genetic Features of Young Individuals With Colorectal CancerStoffel, Elena M. ; Koeppe, Erika ; Everett, Jessica ; Ulintz, Peter ; Kiel, Mark ; Osborne, Jenae ; Williams, Linford ; Hanson, Kristen ; Gruber, Stephen B. ; Rozek, Laura S.Gastroenterology (New York, N.Y. 1943), 2018-03, Vol.154 (4), p.897-905.e1 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United KingdomPontikos, Nikolas ; Arno, Gavin ; Jurkute, Neringa ; Schiff, Elena ; Ba-Abbad, Rola ; Malka, Samantha ; Gimenez, Ainoa ; Georgiou, Michalis ; Wright, Genevieve ; Armengol, Monica ; Knight, Hannah ; Katz, Menachem ; Moosajee, Mariya ; Yu-Wai-Man, Patrick ; Moore, Anthony T. ; Michaelides, Michel ; Webster, Andrew R. ; Mahroo, Omar A.Ophthalmology (Rochester, Minn.), 2020-10, Vol.127 (10), p.1384-1394 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Monogenic variants in dystonia: an exome-wide sequencing studyZech, Michael ; Jech, Robert ; Boesch, Sylvia ; Škorvánek, Matej ; Weber, Sandrina ; Wagner, Matias ; Zhao, Chen ; Jochim, Angela ; Necpál, Ján ; Vill, Katharina ; Stoklosa, Malgorzata ; Krenn, Martin ; Grunwald, Stephan ; Bock-Bierbaum, Tobias ; Fečíková, Anna ; Roth, Jan ; Příhodová, Iva ; Adamovičová, Miriam ; Ulmanová, Olga ; Bechyně, Karel ; Danhofer, Pavlína ; Veselý, Branislav ; Haň, Vladimír ; Gdovinová, Zuzana ; Mantel, Tobias ; Meindl, Tobias ; Sitzberger, Alexandra ; Schröder, Sebastian ; Blaschek, Astrid ; Roser, Timo ; Bonfert, Michaela V ; Haberlandt, Edda ; Plecko, Barbara ; Berweck, Steffen ; Herberhold, Thomas ; Langguth, Berthold ; Švantnerová, Jana ; Minár, Michal ; Ramos-Rivera, Gonzalo Alonso ; Wojcik, Monica H ; Pajusalu, Sander ; Õunap, Katrin ; Pölsler, Laura ; Milenkovic, Ivan ; Laccone, Franco ; Pilshofer, Veronika ; Colombo, Roberto ; Patzer, Steffi ; Iuso, Arcangela ; Vera, Julia ; Troncoso, Monica ; Fang, Fang ; Wilbert, Friederike ; Eckenweiler, Matthias ; Graf, Elisabeth ; Westphal, Dominik S ; Riedhammer, Korbinian M ; Alhaddad, Bader ; Berutti, Riccardo ; Strom, Tim M ; Hecht, Martin ; Baumann, Matthias ; Wolf, Marc ; Telegrafi, Aida ; Person, Richard E ; Zamora, Francisca Millan ; Henderson, Lindsay B ; Musacchio, Thomas ; Volkmann, Jens ; Szuto, Anna ; Becker, Jessica ; Cremer, Kirsten ; Sycha, Thomas ; Zimprich, Fritz ; Kraus, Verena ; Makowski, Christine ; Gonzalez-Alegre, Pedro ; Bardakjian, Tanya M ; Ozelius, Laurie J ; Vetro, Annalisa ; Guerrini, Renzo ; Maier, Esther ; Borggraefe, Ingo ; Kuster, Alice ; Hackenberg, Annette ; Steinfeld, Robert ; Assmann, Birgit ; Staufner, Christian ; Opladen, Thomas ; Růžička, Evžen ; Cohn, Ronald D ; Dyment, David ; Chung, Wendy K ; Engels, Hartmut ; Ploski, Rafal ; Daumke, Oliver ; Haslinger, Bernhard ; Mall, Volker ; Oexle, Konrad ; Winkelmann, JulianeLancet neurology, 2020-11, Vol.19 (11), p.908-918 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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A new search tool for familial searches in the Israel Criminal DNA databaseRam, Tanya ; Starinsky-Elbaz, Sigal ; Avlas, Orna ; Issan, YossiForensic science international, 2023-05, Vol.346, p.111639, Article 111639 [Periódico revisado por pares]Ireland: Elsevier B.VTexto completo disponível |
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Material Type: Artigo
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Guidelines on Genetic Evaluation and Management of Lynch Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal CancerGiardiello, Francis M ; Allen, John I ; Axilbund, Jennifer E ; Boland, C. Richard ; Burke, Carol A ; Burt, Randall W ; Church, James M ; Dominitz, Jason A ; Johnson, David A ; Kaltenbach, Tonya ; Levin, Theodore R ; Lieberman, David A ; Robertson, Douglas J ; Syngal, Sapna ; Rex, Douglas KGastroenterology (New York, N.Y. 1943), 2014-08, Vol.147 (2), p.502-526 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Evidence for excess familial clustering of Post Traumatic Stress Disorder in the US Veterans Genealogy resourceCannon-Albright, Lisa A. ; Romesser, Jennifer ; Teerlink, Craig C. ; Thomas, Alun ; Meyer, Lawrence J.Journal of psychiatric research, 2022-06, Vol.150, p.332-337 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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Statistical genomics in rare cancerAbbas-Aghababazadeh, Farnoosh ; Mo, Qianxing ; Fridley, Brooke L.Seminars in cancer biology, 2020-04, Vol.61, p.1-10 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |