Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

Autor: Johnston Jennifer J, Ng David, Schneider Adele S, Bardakjian Tanya M, Biesecker Leslie G

Publikováno v: BMC Medical Genetics, Vol 10, Iss 1, p 137 (2009)

Abstract Background Anophthalmia and microphthalmia are etiologically and clinically heterogeneous. Lenz microphthalmia is a syndromic form that is typically inherited in an X-linked pattern, though the causative gene mutation is unknown. Townes-Broc

Externí odkaz: https://doaj.org/article/913eca3157bf4b2c94196b1e7fb662ec

Monogenic variants in dystonia: an exome-wide sequencing study

Autor: Zech, Michael, Jech, Robert, Boesch, Sylvia, Škorvánek, Matej, Weber, Sandrina, Wagner, Matias, Zhao, Chen, Jochim, Angela, Necpál, Ján, Dincer, Yasemin, Vill, Katharina, Distelmaier, Felix, Stoklosa, Malgorzata, Krenn, Martin, Grunwald, Stephan, Bock-Bierbaum, Tobias, Fečíková, Anna, Havránková, Petra, Roth, Jan, Příhodová, Iva, Adamovičová, Miriam, Ulmanová, Olga, Bechyně, Karel, Danhofer, Pavlína, Veselý, Branislav, Haň, Vladimír, Pavelekova, Petra, Gdovinová, Zuzana, Mantel, Tobias, Meindl, Tobias, Sitzberger, Alexandra, Schröder, Sebastian, Blaschek, Astrid, Roser, Timo, Bonfert, Michaela V, Haberlandt, Edda, Plecko, Barbara, Leineweber, Birgit, Berweck, Steffen, Herberhold, Thomas, Langguth, Berthold, Švantnerová, Jana, Minár, Michal, Ramos-Rivera, Gonzalo Alonso, Wojcik, Monica H, Pajusalu, Sander, Õunap, Katrin, Schatz, Ulrich A, Pölsler, Laura, Milenkovic, Ivan, Laccone, Franco, Pilshofer, Veronika, Colombo, Roberto, Patzer, Steffi, Iuso, Arcangela, Vera, Julia, Troncoso, Monica, Fang, Fang, Prokisch, Holger, Wilbert, Friederike, Eckenweiler, Matthias, Graf, Elisabeth, Westphal, Dominik S, Riedhammer, Korbinian M, Brunet, Theresa, Alhaddad, Bader, Berutti, Riccardo, Strom, Tim M, Hecht, Martin, Baumann, Matthias, Wolf, Marc, Telegrafi, Aida, Person, Richard E, Zamora, Francisca Millan, Henderson, Lindsay B, Weise, David, 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, Wortmann, Saskia B, Hackenberg, Annette, Steinfeld, Robert, Assmann, Birgit, Staufner, Christian, Opladen, Thomas, Růžička, Evžen, Cohn, Ronald D, Dyment, David, Chung, Wendy K, Engels, Hartmut, Ceballos-Baumann, Andres, Ploski, Rafal, Daumke, Oliver, Haslinger, Bernhard, Mall, Volker, Oexle, Konrad, Winkelmann, Juliane ^*

Publikováno v: In The Lancet Neurology November 2020 19(11):908-918

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Systemic Diagnostic Testing in Patients With Apparently Isolated Uveal Coloboma

Autor: Huynh, Nancy, Blain, Delphine, Glaser, Tanya, Doss, E. Lauren, Zein, Wadih M., Lang, David M., Baker, Eva H., Hill, Suvimol, Brewer, Carmen C., Kopp, Jeffrey B., Bardakjian, Tanya M., Maumenee, Irene H., Bateman, Bronwyn J., Brooks, Brian P.

Publikováno v: In American Journal of Ophthalmology December 2013 156(6):1159-1168

Attitudes of Potential Participants Towards Molecular Therapy Trials in Huntington's Disease.

Autor: Bardakjian, Tanya M.¹ (AUTHOR) tanya.bardakjian@uphs.upenn.edu, Naczi, Kaylee Faulkner¹ (AUTHOR), Gonzalez-Alegre, Pedro^1,2 (AUTHOR)

Publikováno v: Journal of Huntington's Disease. 2019, Vol. 8 Issue 1, p79-85. 7p.