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ArticlesPeer ReviewedFull Text
Retinal small vessel dilatation in the systemic inflammatory response to surgery
Author / Creator:Grogan, Alexander ; Barclay, Karen ; Colville, Deb ; Hodgson, Lauren ; Savige, Judy
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2022-08, Vol.12 (1), p.13291-13291, Article 13291
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Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
Author / Creator:Savige, Judy ; Storey, Helen ; Watson, Elizabeth ; Hertz, Jens Michael ; Deltas, Constantinos ; Renieri, Alessandra ; Mari, Francesca ; Hilbert, Pascale ; Plevova, Pavlina ; Byers, Peter ; Cerkauskaite, Agne ; Gregory, Martin ; Cerkauskiene, Rimante ; Ljubanovic, Danica Galesic ; Becherucci, Francesca ; Errichiello, Carmela ; Massella, Laura ; Aiello, Valeria ; Lennon, Rachel ; Hopkinson, Louise ; Koziell, Ania ; Lungu, Adrian ; Rothe, Hansjorg Martin ; Hoefele, Julia ; Zacchia, Miriam ; Martic, Tamara Nikuseva ; Gupta, Asheeta ; van Eerde, Albertien ; Gear, Susie ; Landini, Samuela ; Palazzo, Viviana ; al-Rabadi, Laith ; Claes, Kathleen ; Corveleyn, Anniek ; Van Hoof, Evelien ; van Geel, Micheel ; Williams, Maggie ; Ashton, Emma ; Belge, Hendica ; Ars, Elisabeth ; Bierzynska, Agnieszka ; Gangemi, Concetta ; Lipska-Ziętkiewicz, Beata S.
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-08, Vol.29 (8), p.1186-1197
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Obstructive sleep apnea, chronic obstructive pulmonary disease and hypertensive microvascular disease: a cross-sectional observational cohort study
Author / Creator:Chew, Sky ; Colville, Deb ; Hutchinson, Anastasia ; Canty, Piers ; Hodgson, Lauren ; Savige, Judy
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2022-08, Vol.12 (1), p.13350-13350, Article 13350
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The 2019 and 2021 International Workshops on Alport Syndrome
Author / Creator:Daga, Sergio ; Ding, Jie ; Deltas, Constantinos ; Savige, Judy ; Lipska-Ziętkiewicz, Beata S. ; Hoefele, Julia ; Flinter, Frances ; Gale, Daniel P. ; Aksenova, Marina ; Kai, Hirofumi ; Perin, Laura ; Barua, Moumita ; Torra, Roser ; Miner, Jeff H. ; Massella, Laura ; Ljubanović, Danica Galešić ; Lennon, Rachel ; Weinstock, Andrè B. ; Knebelmann, Bertrand ; Cerkauskaite, Agne ; Gear, Susie ; Gross, Oliver ; Turner, A. Neil ; Baldassarri, Margherita ; Pinto, Anna Maria ; Renieri, Alessandra
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2022-05, Vol.30 (5), p.507-516
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Increased retinal drusen in IgA glomerulonephritis are further evidence for complement activation in disease pathogenesis
Author / Creator:Harraka, P. ; Wightman, Tony ; Akom, Sarah ; Sandhu, Kieran ; Colville, Deb ; Catran, Andrew ; Langsford, David ; Pianta, Timothy ; Barit, David ; Ierino, Frank ; Skene, Alison ; Mack, Heather ; Savige, Judy
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2022-10, Vol.12 (1), p.18301-18301, Article 18301
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Retinal drusen in glomerulonephritis with or without immune deposits suggest systemic complement activation in disease pathogenesis
Author / Creator:Harraka, P. ; Mack, H. ; Colville, D. ; Barit, D. ; Langsford, D. ; Pianta, T. ; Ierino, F. ; Savige, Judy
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2022-05, Vol.12 (1), p.8234-8234, Article 8234
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Microvascular retinopathy and angiographically-demonstrated coronary artery disease: A cross-sectional, observational study
Author / Creator:Cheng, Lisa ; Barlis, Peter ; Gibson, Joel ; Colville, Deb ; Hutchinson, Anastasia ; Gleeson, Geoff ; Lamoureux, Ecosse ; VanGaal, William ; Savige, Judy
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-05, Vol.13 (5), p.e0192350-e0192350
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Increased retinal venular calibre in acute infections
Author / Creator:Fitt, Cara ; Luong, Thao Vi ; Cresp, Damian ; Hutchinson, Anastasia ; Lim, Karen ; Hodgson, Lauren ; Colville, Deb ; Savige, Judy
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-08, Vol.11 (1), p.17280-17280, Article 17280
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Correction: The 2019 and 2021 International workshops on Alport syndrome
Author / Creator:Daga, Sergio ; Ding, Jie ; Deltas, Constantinos ; Savige, Judy ; Lipska-Ziętkiewicz, Beata S. ; Hoefele, Julia ; Flinter, Frances ; Gale, Daniel P. ; Aksenova, Marina ; Kai, Hirofumi ; Perin, Laura ; Barua, Moumita ; Torra, Roser ; Miner, Jeff H. ; Massella, Laura ; Ljubanović, Danica Galešić ; Lennon, Rachel ; Weinstock, Andrè B. ; Knebelmann, Bertrand ; Cerkauskaite, Agne ; Gear, Susie ; Gross, Oliver ; Turner, A. Neil ; Baldassarri, Margherita ; Pinto, Anna Maria ; Renieri, Alessandra
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2023-01, Vol.32 (1), p.130-130
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Microvascular narrowing and BP monitoring: A single centre observational study
Author / Creator:Ali, Fariya ; Tacey, Mark ; Lykopandis, Nick ; Colville, Deb ; Lamoureux, Ecosse ; Wong, Tien Y. ; Vangaal, William ; Hutchinson, Anastasia ; Savige, Judy
Publisher:United States: Public Library of Science
Journal title:PloS one, 2019-03, Vol.14 (3), p.e0210625-e0210625
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Clinical and genetic features in autosomal recessive and X-linked Alport syndrome
Author / Creator:Wang, Yanyan ; Sivakumar, Vanessa ; Mohammad, Mardhiah ; Colville, Deb ; Storey, Helen ; Flinter, Frances ; Dagher, Hayat ; Savige, Judy
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2014-03, Vol.29 (3), p.391-396
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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
Author / Creator:Parkin, J. Des ; San Antonio, James D. ; Persikov, Anton V. ; Dagher, Hayat ; Dalgleish, Raymond ; Jensen, Shane T. ; Jeunemaitre, Xavier ; Savige, Judy
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017, Vol.12 (7), p.e0175582-e0175582
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DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome
Author / Creator:Savige, Judy ; Ars, Elisabet ; Cotton, Richard G. H. ; Crockett, David ; Dagher, Hayat ; Deltas, Constantinos ; Ding, Jie ; Flinter, Frances ; Pont-Kingdon, Genevieve ; Smaoui, Nizar ; Torra, Roser ; Storey, Helen
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2014-06, Vol.29 (6), p.971-977
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Alport syndrome: deducing the mode of inheritance from the presence of haematuria in family members
Author / Creator:Savige, Judy
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2020-01, Vol.35 (1), p.59-66
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Hypertensive/Microvascular Disease and COPD: a Case Control Study
Author / Creator:Chew, Sky KH ; Colville, Deb ; Canty, Piers ; Hutchinson, Anastasia ; Wong, Alex ; Luong, Vi ; Wong, Tien Y ; McDonald, Christine ; Savige, Judy
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Kidney & blood pressure research, 2016-01, Vol.41 (1), p.29-39
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The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy
Author / Creator:Tonna, Stephen ; Wang, Yan Yan ; Wilson, Diane ; Rigby, Lin ; Tabone, Tania ; Cotton, Richard ; Savige, Judy
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2008-12, Vol.23 (12), p.2201-2207
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Antineutrophil cytoplasmic antibodies and associated diseases: A review of the clinical and laboratory features
Author / Creator:Savige, Judy ; Davies, David ; Falk, Ronald J. ; Jennette, J. Charles ; Wiik, Allan
Publisher:New York, NY: Elsevier Inc
Journal title:Kidney international, 2000-03, Vol.57 (3), p.846-862
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Microvascular Disease After Renal Transplantation
Author / Creator:Ooi, Qi Lun ; Tow, Foong Kien Newk-Fon Hey ; Deva, Raj ; Kawasaki, Ryo ; Wong, Tien Y ; Colville, Deb ; Ierino, Francesco ; Hutchinson, Anastasia ; Savige, Judy
Publisher:Basel, Switzerland: Karger Publishers
Journal title:Kidney & blood pressure research, 2015-01, Vol.40 (6), p.575-583
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Mutations in the COL4A4 gene in thin basement membrane disease
Author / Creator:Buzza, Mark ; Dagher, Hayat ; Wang, YanYan ; Wilson, Diane ; Babon, Jeffrey J. ; Cotton, Richard G. ; Savige, Judy
Publisher:New York, NY: Elsevier Inc
Journal title:Kidney international, 2003-02, Vol.63 (2), p.447-453
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NPHS2 variation in focal and segmental glomerulosclerosis
Author / Creator:Tonna, Stephen J ; Needham, Alexander ; Polu, Krishna ; Uscinski, Andrea ; Appel, Gerald B ; Falk, Ronald J ; Katz, Avi ; Al-Waheeb, Salah ; Kaplan, Bernard S ; Jerums, George ; Savige, Judy ; Harmon, Jennifer ; Zhang, Kang ; Curhan, Gary C ; Pollak, Martin R
Publisher:England: BioMed Central Ltd
Journal title:BMC nephrology, 2008-09, Vol.9 (1), p.13-13
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Retinal small vessel dilatation in the systemic inflammatory response to surgery

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Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

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Obstructive sleep apnea, chronic obstructive pulmonary disease and hypertensive microvascular disease: a cross-sectional observational cohort study

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The 2019 and 2021 International Workshops on Alport Syndrome

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Increased retinal drusen in IgA glomerulonephritis are further evidence for complement activation in disease pathogenesis

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Retinal drusen in glomerulonephritis with or without immune deposits suggest systemic complement activation in disease pathogenesis

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Microvascular retinopathy and angiographically-demonstrated coronary artery disease: A cross-sectional, observational study

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Increased retinal venular calibre in acute infections

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Correction: The 2019 and 2021 International workshops on Alport syndrome

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Microvascular narrowing and BP monitoring: A single centre observational study

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Clinical and genetic features in autosomal recessive and X-linked Alport syndrome

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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

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DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome

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Alport syndrome: deducing the mode of inheritance from the presence of haematuria in family members

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Hypertensive/Microvascular Disease and COPD: a Case Control Study

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The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy

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Antineutrophil cytoplasmic antibodies and associated diseases: A review of the clinical and laboratory features

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Microvascular Disease After Renal Transplantation

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Mutations in the COL4A4 gene in thin basement membrane disease

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NPHS2 variation in focal and segmental glomerulosclerosis

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