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1
Genome-wide association study identifies susceptibility loci for IgA nephropathy
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Artigo
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Genome-wide association study identifies susceptibility loci for IgA nephropathy

GHARAVI, Ali G ; KIRYLUK, Krzysztof ; NOVAK, Jan ; HE, John C ; HAIYAN WANG ; JICHENG LV ; LI ZHU ; WEIMING WANG ; ZHAOHUI WANG ; YASUNO, Kasuhito ; GUNEL, Murat ; MANE, Shrikant ; CHOI, Murim ; UMLAUF, Sheila ; TIKHONOVA, Irina ; BEERMAN, Isabel ; SAVOLDI, Silvana ; MAGISTRONI, Riccardo ; MARCO GHIGGERI, Gian ; BODRIA, Monica ; LUGANI, Francesca ; RAVANI, Pietro ; PONTICELLI, Claudio ; YIFU LI ; ALLEGRI, Landino ; BOSCUTTI, Giuliano ; FRASCA, Giovanni ; AMORE, Alessandro ; PERUZZI, Licia ; COPPO, Rosanna ; IZZI, Claudia ; FABIO VIOLA, Battista ; PRATI, Elisabetta ; SALVADORI, Maurizio ; PING HOU ; MIGNANI, Renzo ; GESUALDO, Loreto ; BERTINETTO, Francesca ; MESIANO, Paola ; AMOROSO, Antonio ; SCOLARI, Francesco ; NAN CHEN ; HONG ZHANG ; LIFTON, Richard P ; JINGYUAN XIE ; SANNA-CHERCHI, Simone ; MEN, Clara J ; JULIAN, Bruce A ; WYATT, Robert J

Nature genetics, 2011-04, Vol.43 (4), p.321-327 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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2
Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy
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Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy

Liguori, Rocco ; Incensi, Alex ; de Pasqua, Silvia ; Mignani, Renzo ; Fileccia, Enrico ; Santostefano, Marisa ; Biagini, Elena ; Rapezzi, Claudio ; Palmieri, Silvia ; Romani, Ilaria ; Borsini, Walter ; Burlina, Alessandro ; Bombardi, Roberto ; Caprini, Marco ; Avoni, Patrizia ; Donadio, Vincenzo Malik, Rayaz Ahmed

PloS one, 2017-07, Vol.12 (7), p.e0180581-e0180581 [Periódico revisado por pares]

United States: Public Library of Science

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3
Prognostic Indicators of Renal Disease Progression in Adults with Fabry Disease: Natural History Data from the Fabry Registry
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Prognostic Indicators of Renal Disease Progression in Adults with Fabry Disease: Natural History Data from the Fabry Registry

Wanner, Christoph ; Oliveira, João P ; Ortiz, Alberto ; Mauer, Michael ; Germain, Dominique P ; Linthorst, Gabor E ; Serra, Andreas L ; Maródi, László ; Mignani, Renzo ; Cianciaruso, Bruno ; Vujkovac, Bojan ; Lemay, Roberta ; Beitner-Johnson, Dana ; Waldek, Stephen ; Warnock, David G

Clinical journal of the American Society of Nephrology, 2010-12, Vol.5 (12), p.2220-2228 [Periódico revisado por pares]

United States: American Society of Nephrology

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4
Reliability of Total Renal Volume Computation in Polycystic Kidney Disease From Magnetic Resonance Imaging
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Artigo
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Reliability of Total Renal Volume Computation in Polycystic Kidney Disease From Magnetic Resonance Imaging

Turco, Dario, MS ; Severi, Stefano, PhD ; Mignani, Renzo, MD ; Aiello, Valeria, MS ; Magistroni, Riccardo, PhD ; Corsi, Cristiana, PhD

Academic radiology, 2015-11, Vol.22 (11), p.1376-1384 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Assessment of Kidney Volume in Polycystic Kidney Disease Using Magnetic Resonance Imaging without Contrast Medium
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Assessment of Kidney Volume in Polycystic Kidney Disease Using Magnetic Resonance Imaging without Contrast Medium

Mignani, Renzo ; Corsi, Cristiana ; De Marco, Mariangela ; Caiani, Enrico G. ; Santucci, Gioele ; Cavagna, Enrico ; Severi, Stefano ; Cagnoli, Leonardo

American journal of nephrology, 2011-01, Vol.33 (2), p.176-184 [Periódico revisado por pares]

Basel, Switzerland: S. Karger AG

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6
Interpretation of GFR slope in untreated and treated adult Fabry patients
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Artigo
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Interpretation of GFR slope in untreated and treated adult Fabry patients

Pisani, Antonio ; Pieruzzi, Federico ; Cirami, Calogero Lino ; Riccio, Eleonora ; Mignani, Renzo

Nephrology, dialysis, transplantation, 2023-12, Vol.39 (1), p.18-25 [Periódico revisado por pares]

England: Oxford University Press

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7
Comparison of Total Kidney Volume Quantification Methods in Autosomal Dominant Polycystic Disease for a Comprehensive Disease Assessment
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Comparison of Total Kidney Volume Quantification Methods in Autosomal Dominant Polycystic Disease for a Comprehensive Disease Assessment

Turco, Dario ; Busutti, Marco ; Mignani, Renzo ; Magistroni, Riccardo ; Corsi, Cristiana

American journal of nephrology, 2017-01, Vol.45 (5), p.373-379 [Periódico revisado por pares]

Switzerland: S. Karger AG

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8
Predictors of Clinical Evolution in Prehypertrophic Fabry Disease
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Artigo
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Predictors of Clinical Evolution in Prehypertrophic Fabry Disease

Camporeale, Antonia ; Pieroni, Maurizio ; Pieruzzi, Federico ; Lusardi, Paola ; Pica, Silvia ; Spada, Marco ; Mignani, Renzo ; Burlina, Alessandro ; Bandera, Francesco ; Guazzi, Marco ; Graziani, Francesca ; Crea, Filippo ; Greiser, Adreas ; Boveri, Sara ; Ambrogi, Federico ; Lombardi, Massimo

Circulation. Cardiovascular imaging, 2019-04, Vol.12 (4), p.e008424-e008424 [Periódico revisado por pares]

United States

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9
Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ
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Artigo
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Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ

Ferri, Lorenzo ; Malesci, Duccio ; Fioravanti, Antonella ; Bagordo, Gaia ; Filippini, Armando ; Ficcadenti, Anna ; Manna, Raffaele ; Antuzzi, Daniela ; Verrecchia, Elena ; Donati, Ilaria ; Mignani, Renzo ; Cavicchi, Catia ; Guerrini, Renzo ; Morrone, Amelia

Clinica chimica acta, 2018-06, Vol.481, p.25-33 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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10
Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation
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Artigo
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Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation

WARNOCK, David G ; ORTIZ, Alberto ; LEMAY, Roberta ; COLE, J. Alexander ; SVARSTAD, Einar ; WALDEK, Stephen ; GERMAIN, Dominique P ; WANNER, Christoph ; MAUER, Michael ; LINTHORST, Gabor E ; OLIVEIRA, Joao P ; SERRA, Andreas L ; MARODI, László ; MIGNANI, Renzo ; VUJKOVAC, Bojan ; BEITNER-JOHNSON, Dana

Nephrology, dialysis, transplantation, 2012-03, Vol.27 (3), p.1042-1049 [Periódico revisado por pares]

Oxford: Oxford University Press

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