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What patients want to know about genetic testing for kidney disease by Judy Savige, B. André Weinstock
Published 2023-06-01
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Editorial: Collagen IV nephropathies: Alport syndrome and beyond by Dorin-Bogdan Borza, Dale R. Abrahamson, Oliver Gross, Judy Savige
Published 2022-09-01
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Retinal small vessel dilatation in the systemic inflammatory response to surgery by Alexander Grogan, Karen Barclay, Deb Colville, Lauren Hodgson, Judy Savige
Published 2022-08-01
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Increased retinal venular calibre in acute infections by Cara Fitt, Thao Vi Luong, Damian Cresp, Anastasia Hutchinson, Karen Lim, Lauren Hodgson, Deb Colville, Judy Savige
Published 2021-08-01
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Microvascular retinopathy and angiographically-demonstrated coronary artery disease: A cross-sectional, observational study. by Lisa Cheng, Peter Barlis, Joel Gibson, Deb Colville, Anastasia Hutchinson, Geoff Gleeson, Ecosse Lamoureux, William VanGaal, Judy Savige
Published 2018-01-01
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The Chemical Chaperone, PBA, Reduces ER Stress and Autophagy and Increases Collagen IV α5 Expression in Cultured Fibroblasts From Men With X-Linked Alport Syndrome and Missense Mut... by Dongmao Wang, Mardhiah Mohammad, Yanyan Wang, Rachel Tan, Lydia S. Murray, Sharon Ricardo, Hayat Dagher, Tom van Agtmael, Judy Savige
Published 2017-07-01
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Retinal small vessel narrowing in women with gestational diabetes, pregnancy-associated hypertension, or small-for-gestational age babies by Joseph Phillipos, Thao Vi Luong, Deborah Chang, Suresh Varadarajan, Paul Howat, Lauren Hodgson, Deb Colville, Deb Colville, Judy Savige
Published 2023-10-01
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The collαgen III fibril has a "flexi-rod" structure of flexible sequences interspersed with rigid bioactive domains including two with hemostatic roles. by J Des Parkin, James D San Antonio, Anton V Persikov, Hayat Dagher, Raymond Dalgleish, Shane T Jensen, Xavier Jeunemaitre, Judy Savige
Published 2017-01-01
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Hypertensive/Microvascular Disease and COPD: a Case Control Study by Sky KH Chew, Deb Colville, Piers Canty, Anastasia Hutchinson, Alex Wong, Vi Luong, Tien Y Wong, Christine McDonald, Judy Savige
Published 2016-01-01
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Microvascular Disease After Renal Transplantation by Qi Lun Ooi, Foong Kien Newk-Fon Hey Tow, Raj Deva, Ryo Kawasaki, Tien Y Wong, Deb Colville, Francesco Ierino, Anastasia Hutchinson, Judy Savige
Published 2015-11-01
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Increased retinal drusen in IgA glomerulonephritis are further evidence for complement activation in disease pathogenesis by P. Harraka, Tony Wightman, Sarah Akom, Kieran Sandhu, Deb Colville, Andrew Catran, David Langsford, Timothy Pianta, David Barit, Frank Ierino, Alison Skene, Heather Mack, Judy Savige
Published 2022-10-01
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Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic VariantsPlain-Language Summary by Cole Shulman, Emerald Liang, Misato Kamura, Khalil Udwan, Tony Yao, Daniel Cattran, Heather Reich, Michelle Hladunewich, York Pei, Judy Savige, Andrew D. Paterson, Mary Ann Suico, Hirofumi Kai, Moumita Barua
Published 2021-03-01
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Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome by Agne Cerkauskaite, Judy Savige, Karolina Janonyte, Ieva Jeremiciute, Marius Miglinas, Edita Kazenaite, Arvydas Laurinavicius, Rasa Strupaite-Sileikiene, Vija Vainutiene, Birute Burnyte, Augustina Jankauskiene, Arndt Rolfs, Peter Bauer, Sabine Schröder, Rimante Cerkauskiene
Published 2022-03-01
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Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome by Joel T. Gibson, Mary Huang, Marina Shenelli Croos Dabrera, Krushnam Shukla, Hansjörg Rothe, Pascale Hilbert, Constantinos Deltas, Helen Storey, Beata S. Lipska-Ziętkiewicz, Melanie M. Y. Chan, Omid Sadeghi-Alavijeh, Daniel P. Gale, Genomics England Research Consortium, Agne Cerkauskaite, Judy Savige
Published 2022-02-01
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A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people by Pavlina Plevova, Pavlina Plevova, Jana Indrakova, Judy Savige, Petra Kuhnova, Petra Tvrda, Dita Cerna, Sarka Hilscherova, Monika Kudrejova, Daniela Polendova, Radka Jaklova, Martina Langova, Helena Jahnova, Jana Lastuvkova, Jiri Dusek, Josef Gut, Marketa Vlckova, Pavla Solarova, Gabriela Kreckova, Eva Kantorova, Jana Soukalova, Rastislav Slavkovsky, Jana Zapletalova, Tomas Tichy, Dana Thomasova
Published 2023-02-01
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