genetic renal disease

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Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease
Young-Hwan Hwang, John Conklin, Winnie Chan, Nicole M. Roslin, Jannel Liu, Ning He, Kairong Wang, Jamie L. Sundsbak, Christina M. Heyer, Masoom Haider, Andrew D. Paterson, Peter C. Harris and York Pei

JASN June 2016, 27 (6) 1861-1868; DOI: https://doi.org/10.1681/ASN.2015060648

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Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria
Nasser Dhayat, Alexandre Simonin, Manuel Anderegg, Ganesh Pathare, Benjamin P Lüscher, Christine Deisl, Giuseppe Albano, David Mordasini, Matthias A. Hediger, Daniel V. Surbek, Bruno Vogt, Jörn Oliver Sass, Barbara Kloeckener-Gruissem and Daniel G. Fuster

JASN May 2016, 27 (5) 1426-1436; DOI: https://doi.org/10.1681/ASN.2015040411

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HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease
Zhiyong Chen, Tiffany Migeon, Marie-Christine Verpont, Mohamad Zaidan, Yoshikazu Sado, Dontscho Kerjaschki, Pierre Ronco and Emmanuelle Plaisier

JASN April 2016, 27 (4) 1042-1054; DOI: https://doi.org/10.1681/ASN.2014121217

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The PROPKD Score: A New Algorithm to Predict Renal Survival in Autosomal Dominant Polycystic Kidney Disease
Emilie Cornec-Le Gall, Marie-Pierre Audrézet, Annick Rousseau, Maryvonne Hourmant, Eric Renaudineau, Christophe Charasse, Marie-Pascale Morin, Marie-Christine Moal, Jacques Dantal, Bassem Wehbe, Régine Perrichot, Thierry Frouget, Cécile Vigneau, Jérôme Potier, Philippe Jousset, Marie-Paule Guillodo, Pascale Siohan, Nazim Terki, Théophile Sawadogo, Didier Legrand, Victorio Menoyo-Calonge, Seddik Benarbia, Dominique Besnier, Hélène Longuet, Claude Férec and Yannick Le Meur

JASN March 2016, 27 (3) 942-951; DOI: https://doi.org/10.1681/ASN.2015010016

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Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects
Matthew G. Sampson, Catherine C. Robertson, Sebastian Martini, Laura H. Mariani, Kevin V. Lemley, Christopher E. Gillies, Edgar A. Otto, Jeffrey B. Kopp, Anne Randolph, Virginia Vega-Warner, Felix Eichinger, Viji Nair, Debbie S. Gipson, Daniel C. Cattran, Duncan B. Johnstone, John F. O’Toole, Serena M. Bagnasco, Peter X. Song, Laura Barisoni, Jonathan P. Troost, Matthias Kretzler, John R. Sedor and the Nephrotic Syndrome Study Network

JASN March 2016, 27 (3) 814-823; DOI: https://doi.org/10.1681/ASN.2014111131

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Hepatocyte Nuclear Factor 1β–Associated Kidney Disease: More than Renal Cysts and Diabetes
Jacobien C. Verhave, Anneke P. Bech, Jack F.M. Wetzels and Tom Nijenhuis

JASN February 2016, 27 (2) 345-353; DOI: https://doi.org/10.1681/ASN.2015050544

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Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia
Karl P. Schlingmann, Justyna Ruminska, Martin Kaufmann, Ismail Dursun, Monica Patti, Birgitta Kranz, Ewa Pronicka, Elzbieta Ciara, Teoman Akcay, Derya Bulus, Elisabeth A.M. Cornelissen, Aneta Gawlik, Przemysław Sikora, Ludwig Patzer, Matthias Galiano, Veselin Boyadzhiev, Miroslav Dumic, Asaf Vivante, Robert Kleta, Benjamin Dekel, Elena Levtchenko, René J. Bindels, Stephan Rust, Ian C. Forster, Nati Hernando, Glenville Jones, Carsten A. Wagner and Martin Konrad

JASN February 2016, 27 (2) 604-614; DOI: https://doi.org/10.1681/ASN.2014101025

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ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS
Emine Korkmaz, Beata S. Lipska-Ziętkiewicz, Olivia Boyer, Olivier Gribouval, Cecile Fourrage, Mansoureh Tabatabaei, Sven Schnaidt, Safak Gucer, Figen Kaymaz, Mustafa Arici, Ayhan Dinckan, Sevgi Mir, Aysun K. Bayazit, Sevinc Emre, Ayse Balat, Lesley Rees, Rukshana Shroff, Carsten Bergmann, Chebl Mourani, Corinne Antignac, Fatih Ozaltin, Franz Schaefer and the PodoNet Consortium

JASN January 2016, 27 (1) 63-68; DOI: https://doi.org/10.1681/ASN.2014121240

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Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria
Katharina Hopp, Andrea G. Cogal, Eric J. Bergstralh, Barbara M. Seide, Julie B. Olson, Alicia M. Meek, John C. Lieske, Dawn S. Milliner and Peter C. Harris

JASN October 2015, 26 (10) 2559-2570; DOI: https://doi.org/10.1681/ASN.2014070698

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The Future of Polycystic Kidney Disease Research—As Seen By the 12 Kaplan Awardees
Corinne Antignac, James P. Calvet, Gregory G. Germino, Jared J. Grantham, Lisa M. Guay-Woodford, Peter C. Harris, Friedhelm Hildebrandt, Dorien J.M. Peters, Stefan Somlo, Vicente E. Torres, Gerd Walz, Jing Zhou and Alan S.L. Yu

JASN September 2015, 26 (9) 2081-2095; DOI: https://doi.org/10.1681/ASN.2014121192

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