Renal Medicine

DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes
Jonathan Marquez, Nina Mann, Kathya Arana, Engin Deniz, Weizhen Ji, Monica Konstantino, Emily K Mis, Charu Deshpande, Lauren Jeffries, Julie McGlynn, Hannah Hugo, Eugen Widmeier, Martin Konrad, Velibor Tasic, Raffaella Morotti, Julia Baptista, Sian Ellard, Saquib Ali Lakhani, Friedhelm Hildebrandt, Mustafa K Khokha

Journal of Medical Genetics Jul 2021, 58 (7) 453-464; DOI: 10.1136/jmedgenet-2019-106805
Treatment switch in Fabry disease- a matter of dose?
Malte Lenders, Peter Nordbeck, Sima Canaan-Kühl, Lukas Kreul, Thomas Duning, Lora Lorenz, Christian Pogoda, Stefan-Martin Brand, Christoph Wanner, Eva Brand

Journal of Medical Genetics May 2021, 58 (5) 342-350; DOI: 10.1136/jmedgenet-2020-106874
Autosomal dominant polycystic kidney disease in absence of renal cyst formation illustrates genetic interaction between WT1 and PKD1
Johannes Münch, Karin M Kirschner, Hendrik Schlee, Cornelia Kraus, Ria Schönauer, Wenjun Jin, Diana Le Duc, Holger Scholz, Jan Halbritter

Journal of Medical Genetics Feb 2021, 58 (2) 140-144; DOI: 10.1136/jmedgenet-2019-106633
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype
Isabelle Perrault, Jan Halbritter, Jonathan D Porath, Xavier Gérard, Daniela A Braun, Heon Yung Gee, Hanan M Fathy, Sophie Saunier, Valérie Cormier-Daire, Sophie Thomas, Tania Attié-Bitach, Nathalie Boddaert, Michael Taschner, Markus Schueler, Esben Lorentzen, Richard P Lifton, Jennifer A Lawson, Meriem Garfa-Traore, Edgar A Otto, Philippe Bastin, Catherine Caillaud, Josseline Kaplan, Jean-Michel Rozet, Friedhelm Hildebrandt

Journal of Medical Genetics Oct 2015, 52 (10) 657-665; DOI: 10.1136/jmedgenet-2014-102838
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype
Alexander J Hamilton, Coralie Bingham, Timothy J McDonald, Paul R Cook, Richard C Caswell, Michael N Weedon, Richard A Oram, Beverley M Shields, Maggie Shepherd, Carol D Inward, Julian P Hamilton-Shield, Jürgen Kohlhase, Sian Ellard, Andrew T Hattersley

Journal of Medical Genetics Mar 2014, 51 (3) 165-169; DOI: 10.1136/jmedgenet-2013-102066
ARHGDIA: a novel gene implicated in nephrotic syndrome
Indra Rani Gupta, Cindy Baldwin, David Auguste, Kevin C H Ha, Jasmine El Andalousi, Somayyeh Fahiminiya, Martin Bitzan, Chantal Bernard, Mohammad Reza Akbari, Steven A Narod, David S Rosenblatt, Jacek Majewski, Tomoko Takano

Journal of Medical Genetics May 2013, 50 (5) 330-338; DOI: 10.1136/jmedgenet-2012-101442
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies
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

Journal of Medical Genetics Mar 2016, 53 (3) 208-214; DOI: 10.1136/jmedgenet-2015-103304
Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria
Yaacov Frishberg, Avraham Zeharia, Roman Lyakhovetsky, Ruth Bargal, Ruth Belostotsky

Journal of Medical Genetics Aug 2014, 51 (8) 526-529; DOI: 10.1136/jmedgenet-2014-102529
Deletion of the 5′exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome
Maria João Nabais Sá, Nathalie Fieremans, Arjan P M de Brouwer, Rita Sousa, Fernando Teixeira e Costa, Maria José Brito, Fernanda Carvalho, Márcia Rodrigues, Francisco Teixeira de Sousa, Joana Felgueiras, Fernando Neves, Adelino Carvalho, Umbelina Ramos, José Ramón Vizcaíno, Susana Alves, Filipa Carvalho, Guy Froyen, João Paulo Oliveira

Journal of Medical Genetics Nov 2013, 50 (11) 745-753; DOI: 10.1136/jmedgenet-2013-101670
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing
Jan Halbritter, Katrina Diaz, Moumita Chaki, Jonathan D Porath, Brendan Tarrier, Clementine Fu, Jamie L Innis, Susan J Allen, Robert H Lyons, Constantinos J Stefanidis, Heymut Omran, Neveen A Soliman, Edgar A Otto

Journal of Medical Genetics Dec 2012, 49 (12) 756-767; DOI: 10.1136/jmedgenet-2012-100973

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