Výsledky vyhledávání - Jan Halbritter

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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 Autor 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

    Vydáno 2013
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  2. 2
    Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease

    Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease Autor Isabel Ottlewski, Johannes Münch, Timo Wagner, Ria Schönauer, Anette Bachmann, Antje Weimann, Julia Hentschel, Tom H. Lindner, Daniel Seehofer, Carsten Bergmann, Rami Abou Jamra, Jan Halbritter

    Vydáno 2019
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  3. 3
    Rapid Detection of Monogenic Causes of Childhood-Onset Steroid-Resistant Nephrotic Syndrome

    Rapid Detection of Monogenic Causes of Childhood-Onset Steroid-Resistant Nephrotic Syndrome Autor Svjetlana Lovric, Humphrey Fang, Virginia Vega-Warner, Carolin E. Sadowski, Heon Yung Gee, Jan Halbritter, Shazia Ashraf, Pawaree Saisawat, Neveen A. Soliman, Jameela A. Kari, Edgar A. Otto, Friedhelm Hildebrandt

    Vydáno 2014
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  4. 4
    Clinical, biochemical, and pathophysiological analysis of <i>SLC34A1</i> mutations

    Clinical, biochemical, and pathophysiological analysis of <i>SLC34A1</i> mutations Autor Amy Fearn, Benjamin Allison, Sarah J. Rice, Noel Edwards, Jan Halbritter, Soline Bourgeois, Eva M. Pastor‐Arroyo, Friedhelm Hildebrandt, Velibor Tasić, Carsten A. Wagner, Nati Hernando, John A. Sayer, Andreas Werner

    Vydáno 2018
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  5. 5
    Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis

    Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis Autor 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

    Vydáno 2014
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  6. 6
    Mutation of the Mg2+ Transporter SLC41A1 Results in a Nephronophthisis-Like Phenotype

    Mutation of the Mg2+ Transporter SLC41A1 Results in a Nephronophthisis-Like Phenotype Autor Toby W. Hurd, Edgar A. Otto, Eikan Mishima, Heon Yung Gee, H. Inoue, Masato Inazu, Hideomi Yamada, Jan Halbritter, George Seki, Masato Konishi, Weibin Zhou, Tsutomo Yamane, Satoshi Murakami, Gianluca Caridi, Gian Marco Ghiggeri, Takaaki Abe, Friedhelm Hildebrandt

    Vydáno 2013
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  7. 7
    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 Autor 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

    Vydáno 2015
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  8. 8
    Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy

    Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy Autor Yo Jun Choi, Jan Halbritter, Daniela A. Braun, Markus Schueler, David Schapiro, John Hoon Rim, Sumeda Nandadasa, Won‐Il Choi, Eugen Widmeier, Shirlee Shril, Friederike Körber, Sidharth Kumar Sethi, Richard P. Lifton, Bodo B. Beck, Suneel Apte, Heon Yung Gee, Friedhelm Hildebrandt

    Vydáno 2019
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  9. 9
    Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis

    Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis Autor Ali Amar, Amar J. Majmundar, Ihsan Ullah, Ayesha Afzal, Daniela A. Braun, Shirlee Shril, Ankana Daga, Tilman Jobst‐Schwan, Mumtaz Ahmad, John A. Sayer, Heon Yung Gee, Jan Halbritter, Thomas Knöpfel, Nati Hernando, Andreas Werner, Carsten A. Wagner, Shagufta Khaliq, Friedhelm Hildebrandt

    Vydáno 2019
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  10. 10
    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 Autor 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

    Vydáno 2015
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  11. 11
    Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis

    Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis Autor Daniela A. Braun, Jennifer A. Lawson, Heon Yung Gee, Jan Halbritter, Shirlee Shril, Weizhen Tan, Deborah R. Stein, Ari J. Wassner, Michael A. Ferguson, Zoran Gucev, Brittany Fisher, Leslie Spaneas, Jennifer D. Varner, John A. Sayer, Danko Milošević, Michelle A. Baum, Velibor Tasić, Friedhelm Hildebrandt

    Vydáno 2016
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  12. 12
    Mutations in SLC26A1 Cause Nephrolithiasis

    Mutations in SLC26A1 Cause Nephrolithiasis Autor Heon Yung Gee, Ikhyun Jun, Daniela A. Braun, Jennifer A. Lawson, Jan Halbritter, Shirlee Shril, Caleb P. Nelson, Weizhen Tan, Deborah R. Stein, Ari J. Wassner, Michael A. Ferguson, Zoran Gucev, John A. Sayer, Danko Milošević, Michelle A. Baum, Velibor Tasić, Min Goo Lee, Friedhelm Hildebrandt

    Vydáno 2016
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  13. 13
    Cystinuria: clinical practice recommendation

    Cystinuria: clinical practice recommendation Autor Aude Servais, Kay Thomas, Luca Dello Strologo, John A. Sayer, Soumeya Bekri, Aurélia Bertholet‐Thomas, Matthew Bultitude, Giovanna Capolongo, Rimantė Čerkauskienė, Michel Daudon, Steeve Doizi, Valentine Gillion, Sílvia Gràcia-Garcia, Jan Halbritter, Laurence Heidet, Marleen van den Heijkant, Sandrine Lemoine, Bertrand Knebelmann, Francesco Emma, Elena Levtchenko

    Vydáno 2020
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  14. 14
    Claudin-10a Deficiency Shifts Proximal Tubular Cl- Permeability to Cation Selectivity via Claudin-2 Redistribution

    Claudin-10a Deficiency Shifts Proximal Tubular Cl- Permeability to Cation Selectivity via Claudin-2 Redistribution Autor Tilman Breiderhoff, Nina Himmerkus, Luca Meoli, Anja Fromm, Sebastian Sewerin, Natalia Kriuchkova, Oliver Nagel, Yury Ladilov, Susanne M. Krug, Catarina Quintanova, Meike Stumpp, Dieter Garbe‐Schönberg, Ulrike Westernströer, Cosima Merkel, Merle Annette Brinkhus, Janine Altmüller, Michal R. Schweiger, Dominik Müller, Kerim Mutig, Markus Morawski, Jan Halbritter, Susanne Milatz, Markus Bleich, Dorothee Günzel

    Vydáno 2022
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  15. 15
    Mutations in CSPP1 Lead to Classical Joubert Syndrome

    Mutations in CSPP1 Lead to Classical Joubert Syndrome Autor Naiara Akizu, Jennifer L. Silhavy, Rasim Özgür Rosti, Eric Scott, Ali G. Fenstermaker, Jana Schroth, Maha S. Zaki, Henry Sánchez, Neerja Gupta, Madhulika Kabra, Majdi Kara, Tawfeg Ben‐Omran, Başak Rosti, Alicia Guemez‐Gamboa, Emily Spencer, Roger Pan, Na Cai, Mostafa Abdellateef, Stacey Gabriel, Jan Halbritter, Friedhelm Hildebrandt, Hans van Bokhoven, Murat Günel, Joseph G. Gleeson

    Vydáno 2013
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  16. 16
    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 Autor 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

    Vydáno 2015
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  17. 17
    Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

    Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability Autor 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

    Vydáno 2014
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  18. 18
    TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone

    TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone Autor 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

    Vydáno 2015
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  19. 19
    A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

    A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome Autor Carolin E. Sadowski, Svjetlana Lovric, Shazia Ashraf, Werner L. Pabst, Heon Yung Gee, Stefan Kohl, Susanne Engelmann, Virginia Vega-Warner, Humphrey Fang, Jan Halbritter, Michael J.G. Somers, Weizhen Tan, Shirlee Shril, Inès Fessi, Richard P. Lifton, Detlef Böckenhauer, Sherif M. El-Desoky, Jameela A. Kari, Martin Zenker, Markus J. Kemper, Dominik N Mueller, Hanan Fathy, Neveen A. Soliman, Friedhelm Hildebrandt

    Vydáno 2014
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  20. 20
    DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling

    DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling Autor 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

    Vydáno 2014
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