Resultados de procura - Jonathan D. Porath

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  1. 1
    Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

    Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy por Jan Halbritter, Jonathan D. Porath, Katrina A. Diaz, Daniela A. Braun, Stefan Kohl, Moumita Chaki, Susan J. Allen, Neveen A. Soliman, Friedhelm Hildebrandt, Edgar A. Otto

    Publicado 2013
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  2. 2
    Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis

    Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis por Jan Halbritter, Michelle A. Baum, Ann Marie Hynes, Sarah J. Rice, David T. Thwaites, Zoran Gucev, Brittany Fisher, Leslie Spaneas, Jonathan D. Porath, Daniela A. Braun, Ari J. Wassner, Caleb P. Nelson, Velibor Tasić, John A. Sayer, Friedhelm Hildebrandt

    Publicado 2014
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  3. 3
    Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

    Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies por Markus Schueler, Jan Halbritter, Ian G. Phelps, Daniela A. Braun, Edgar A. Otto, Jonathan D. Porath, Heon Yung Gee, Jay Shendure, Brian J. O’Roak, Jennifer A. Lawson, Marwa M. Nabhan, Neveen A. Soliman, Dan Doherty, Friedhelm Hildebrandt

    Publicado 2015
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  4. 4
    Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate<i>ZIC3</i>and<i>FOXF1</i>in Human VATER/VACTERL Association

    Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate<i>ZIC3</i>and<i>FOXF1</i>in Human VATER/VACTERL Association por Alina C. Hilger, Jan Halbritter, Tracie Pennimpede, Amelie van der Ven, Georgia Sarma, Daniela A. Braun, Jonathan D. Porath, Stefan Kohl, Daw‐Yang Hwang, Gabriel C. Dworschak, Bernhard G. Hermann, Anna Pavlova, Osman El‐Maarri, Markus M. Nöthen, Michael Ludwig, Heiko Reutter, Friedhelm Hildebrandt

    Publicado 2015
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  5. 5
    Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

    Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity por Daniela A. Braun, Markus Schueler, Jan Halbritter, Heon Yung Gee, Jonathan D. Porath, Jennifer A. Lawson, Rannar Airik, Shirlee Shril, Susan J. Allen, Deborah R. Stein, Adila Al Kindy, Bodo B. Beck, Nurcan Cengız, Khemchand N Moorani, Fatih Özaltın, Seema Hashmi, John A. Sayer, Detlef Böckenhauer, Neveen A. Soliman, Edgar A. Otto, Richard P. Lifton, Friedhelm Hildebrandt

    Publicado 2015
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  6. 6
    Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

    Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability por Marion Failler, Heon Yung Gee, Pauline Krug, Kwangsic Joo, Jan Halbritter, Lilya Belkacem, Emilie Filhol, Jonathan D. Porath, Daniela A. Braun, Markus Schueler, Amandine Frigo, Olivier Alibeu, Cécile Masson, Karine Brochard, Bruno Hurault de Ligny, Robert Novo, Christine Piétrement, Hülya Kayserili, Rémi Salomon, Marie‐Claire Gubler, Edgar A. Otto, Corinne Antignac, Joon Kim, Alexandre Benmerah, Friedhelm Hildebrandt, Sophie Saunier

    Publicado 2014
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  7. 7
    TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone

    TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone por Elle C. Roberson, William E. Dowdle, Ayşegül Ozantürk, Francesc R. García-Gonzalo, Chunmei Li, Jan Halbritter, Nadia Elkhartoufi, Jonathan D. Porath, Heidi Cope, Allison E. Ashley‐Koch, Simon G. Gregory, Sophie Thomas, John A. Sayer, Sophie Saunier, Edgar A. Otto, Nicholas Katsanis, Erica E. Davis, Tania Attié‐Bitach, Friedhelm Hildebrandt, Michel R. Leroux, Jeremy F. Reiter

    Publicado 2015
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  8. 8
    DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling

    DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling por Markus Schueler, Daniela A. Braun, Gayathri Chandrasekar, Heon Yung Gee, Timothy D. Klasson, Jan Halbritter, Andrea Bieder, Jonathan D. Porath, Rannar Airik, Weibin Zhou, Joseph J. LoTurco, Alicia Che, Edgar A. Otto, Detlef Böckenhauer, Neil J. Sebire, Tomáš Honzík, Peter C. Harris, Sarah Koon, Meral Gunay‐Aygun, Sophie Saunier, Klaus Zerres, Nadina Ortiz Bruechle, Joost P.H. Drenth, Laurence Pelletier, Isabel Tapia‐Páez, Richard P. Lifton, Rachel H. Giles, Juha Kere, Friedhelm Hildebrandt

    Publicado 2014
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  9. 9
    Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms

    Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms por Michael R. Knowles, Lawrence E. Ostrowski, Niki T. Loges, Toby W. Hurd, Margaret W. Leigh, Lu Huang, Whitney Wolf, Johnny L. Carson, Milan J. Hazucha, Weining Yin, Stephanie D. Davis, Sharon Dell, Thomas W. Ferkol, Scott D. Sagel, Kenneth N. Olivier, Charlotte Jahnke, Heike Olbrich, Claudius Werner, Johanna Raidt, Julia Wallmeier, Petra Pennekamp, Gerard W. Dougherty, Rim Hjeij, Heon Yung Gee, Edgar A. Otto, Jan Halbritter, Moumita Chaki, Katrina A. Diaz, Daniela A. Braun, Jonathan D. Porath, Markus Schueler, G Baktai, Matthias Griese, Emily H. Turner, Alexandra P. Lewis, Michael J. Bamshad, Deborah A. Nickerson, Friedhelm Hildebrandt, Jay Shendure, Heymut Omran, Maimoona A. Zariwala

    Publicado 2013
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  10. 10
    FAT1 mutations cause a glomerulotubular nephropathy

    FAT1 mutations cause a glomerulotubular nephropathy por Heon Yung Gee, Carolin E. Sadowski, Pardeep Aggarwal, Jonathan D. Porath, Toma A. Yakulov, Markus Schueler, Svjetlana Lovric, Shazia Ashraf, Daniela A. Braun, Jan Halbritter, Humphrey Fang, Rannar Airik, Virginia Vega-Warner, Kyeong Jee Cho, Timothy A. Chan, Luc G.T. Morris, Charles ffrench‐Constant, Nicholas D. Allen, Helen McNeill, Rainer Büscher, Henriette Kyrieleis, Michael Wallot, Ariana Gaspert, Thomas Kistler, David V. Milford, Moin A. Saleem, Wee Teik Keng, Stephen I. Alexander, Rudolph P. Valentini, Christoph Licht, Jun Chuan Teh, Radovan Bogdanović, Ania Koziell, Agnieszka Bierżyńska, Neveen A. Soliman, Edgar A. Otto, Richard P. Lifton, Lawrence B. Holzman, Nicholas E. S. Sibinga, Gerd Walz, Alda Tufró, Friedhelm Hildebrandt

    Publicado 2016
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  11. 11
    Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

    Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia por Christina Austin‐Tse, Jan Halbritter, Maimoona A. Zariwala, Renée M. Gilberti, Heon Yung Gee, Nathan E. Hellman, Narendra Pathak, Yan Liu, Jennifer R. Panizzi, Ramila S. Patel‐King, Douglas Tritschler, Raqual Bower, Eileen O’Toole, Jonathan D. Porath, Toby W. Hurd, Moumita Chaki, Katrina A. Diaz, Stefan Kohl, Svjetlana Lovric, Daw‐Yang Hwang, Daniela A. Braun, Markus Schueler, Rannar Airik, Edgar A. Otto, Margaret W. Leigh, Peadar G. Noone, Johnny L. Carson, Stephanie D. Davis, Jessica E. Pittman, Thomas W. Ferkol, Jeffrey J. Atkinson, Kenneth N. Olivier, Scott D. Sagel, Sharon Dell, Margaret Rosenfeld, Carlos Milla, Niki T. Loges, Heymut Omran, Mary E. Porter, Stephen M. King, Michael R. Knowles, Iain A. Drummond, Friedhelm Hildebrandt

    Publicado 2013
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  12. 12
    Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

    Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans por Jan Halbritter, Albane A. Bizet, Miriam Schmidts, Jonathan D. Porath, Daniela A. Braun, Heon Yung Gee, Aideen M. McInerney‐Leo, Pauline Krug, Emilie Filhol, Erica E. Davis, Rannar Airik, Peter G. Czarnecki, Anna Lehman, Peter Trnka, Patrick Nitschké, Christine Bôle‐Feysot, Markus Schueler, Bertrand Knebelmann, Stéphane Burtey, Attila J. Szabó, Kálmán Tory, Paul Leo, Brooke Gardiner, Fiona A. McKenzie, Andreas Zankl, Matthew A. Brown, Jane Hartley, Eamonn R. Maher, Chunmei Li, Michel R. Leroux, Peter Scambler, Shing H. Zhan, Steven J.M. Jones, Hülya Kayserili, Beyhan Tüysüz, Khemchand N Moorani, Alexandru R. Constantinescu, Ian D. Krantz, Bernard S. Kaplan, Jagesh V. Shah, Toby W. Hurd, Dan Doherty, Nicholas Katsanis, Emma L. Duncan, Edgar A. Otto, Philip L. Beales, Hannah M. Mitchison, Sophie Saunier, Friedhelm Hildebrandt

    Publicado 2013
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  13. 13
    ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

    ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6 por Maimoona A. Zariwala, Heon Yung Gee, Małgorzata Kurkowiak, Dalal A. Al-Mutairi, Margaret W. Leigh, Toby W. Hurd, Rim Hjeij, Sharon Dell, Moumita Chaki, Gerard W. Dougherty, Mohamed Adan, Philip C. Spear, Julián Esteve-Rudd, Niki T. Loges, Margaret Rosenfeld, Katrina A. Diaz, Heike Olbrich, Whitney Wolf, Eamonn Sheridan, Trevor F.C. Batten, Jan Halbritter, Jonathan D. Porath, Stefan Kohl, Svjetlana Lovric, Daw‐Yang Hwang, Jessica E. Pittman, Kimberlie A. Burns, Thomas W. Ferkol, Scott D. Sagel, Kenneth N. Olivier, Lucy Morgan, Claudius Werner, Johanna Raidt, Petra Pennekamp, Zhaoxia Sun, Weibin Zhou, Rannar Airik, S. Natarajan, Susan J. Allen, Israel Amirav, Dagmar Wieczorek, Kerstin Landwehr, Kim G. Nielsen, Nicolaus Schwerk, Jadranka Sertić, Gabriele Köhler, Joseph Washburn, Shawn Levy, Shuling Fan, Cordula Koerner‐Rettberg, Serge Amselem, David S. Williams, Brian J. Mitchell, Iain A. Drummond, Edgar A. Otto, Heymut Omran, Michael R. Knowles, Friedhelm Hildebrandt

    Publicado 2013
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