Results 101 to 110 of about 6,803 (205)

Retinal basement membrane abnormalities and the retinopathy of Alport syndrome [PDF]

, 2010
Purpose. To determine the effects of X-linked and autosomal recessive Alport syndrome on retinal basement membranes and how these result in the characteristic perimacular dot-and-fleck retinopathy, lozenge, and macular hole. Methods. The type IV collagen
Deb Colville, John Liu, Shirley Sarks, Wang, Yan Yan, Brendan Vote, Judy Savige, Colville, Deb, Cabrera DeBuc, Delia, James T Handa, Handa, James T., Sarks, Shirley, DeBuc, Delia Cabrera, Savige, Judy, Parkin, John D., Delia Cabrera Debuc, Parkin, John D, Fassett, Rob, Hageman, Gregory S, Vote, Brendan, John D Parkin, Handa, James T, Liu, John, Gregory S Hageman, Hageman, Gregory S., Rob Fassett, Yan Yan Wang   +25 more
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The COL4A5 gene in Japanese Alport syndrome patients: Spectrum of mutations of all exons

, 1996
The COL4A5 gene in Japanese Alport syndrome patients: Spectrum of mutations of all exons. To determine the spectrum of mutations of the COL4A5 gene encoding type IV collagen among Japanese Alport syndrome (AS) patients, 60 unrelated patients (47 males ...
Japanese Alport Network,, Nomura, Shinsuke, Osawa, Gengo, Harano, Teruo, Harano, Keiko, Kawai, Shinichiro, Fukushima, Tatsuo   +6 more
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A Case With Renal Failure, Hearing Loss and Double Ureters

Turkish Journal of Nephrology, 2019
In nephrology practice, the association of renal failure and deafness immediately brings to mind the Alport syndrome. However, in the differential diagnosis of deafness and renal failure a great number of syndromes ranging from Alport to Muckle-Wells ...
Kübra KAYNAR, Gülsüm ÖZKAN, Semih GÜL, Murat KAPUSUZ, Ümit ÇOBANOĞLU, Polat KOŞUCU, Şükrü ULUSOY   +6 more
doaj  

Alport syndrome—insights from basic and clinical research

, 2013
In 1927, Arthur C. Alport first published his description of a triad of symptoms in a family with hereditary congenital haemorrhagic nephritis, deafness and ocular changes.
Rubel, Diana, Oliver Gross, Jenny Kruegel, Diana Rubel, Gross, Oliver, Kruegel, Jenny   +5 more
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Clinical, Pathological, and Genetic Characteristics of Patients with Digenic Alport Syndrome

Key Points: Patients with both COL4A3 and COL4A4 variants exhibited poor renal prognosis compared with those with autosomal dominant Alport syndrome. The proportion of patients with digenic Alport syndrome was 1.7% among all patients with Alport syndrome.
Tanaka, Yu, Ishimori, Shingo, Inoki, Yuta, Kitakado, Hideaki, ヤマムラ, トモヒコ, キタカド, ヒデアキ, 野津, 寛大, Ichikawa, Yuta, Sakakibara, Nana, 山村, 智彦, 堀之内, 智子, ホリノウチ, トモコ, Ueda, Chika, 上田, 知佳, イシモリ, シンゴ, 榊原, 菜々, Horinouchi, Tomoko, 石森, 真吾, 近藤, 淳, ノヅ, カンダイ, コンドウ, アツシ, Yamamura, Tomohiko, Nozu, Kandai, ナガノ, チナ, 北角, 英晶, 長野, 智那, ウエダ, チカ, Kondo, Atsushi, Nagano, China, サカキバラ, ナナ   +29 more
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Pathogenic variants in the Alport genes are prevalent in the Singapore multiethnic population with highest frequency in the Chinese

Scientific Reports
Alport syndrome is a common monogenic kidney disease resulting from pathogenic variants in COL4A3, COL4A4 or COL4A5 genes. The estimated global population prevalence is one in 106 individuals for autosomal dominant (AD) and one in 2,320 for sex-linked ...
Tina Si Ting Lim, Chee Teck Koh, Judith Savige, Alvin Yu-Jin Ng, Jun Li Ng, Hui-Lin Chin, Weng Khong Lim, Gek Cher Chan, See Cheng Yeo, Esther Hui Min Leow, Benedict Junrong Yan, Kar Hui Ng, Yaochun Zhang   +12 more
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Outcomes of kidney transplantation in alport syndrome compared with other forms of renal disease

, 2016
Introduction: Alport syndrome is an inherited renal disease characterized by hematuria, renal failure, hearing loss and a lamellated glomerular basement membrane.
Patil, Anish, Conlon, Peter J., Kelly, Yvelynne P., Kaballo, Mohammed A., O’Kelly, Patrick, Kant, Saumitra, Doyle, Brendan, Dorman, Anthony, Murray, Susan, Wallis, Luke, Casserly, Liam   +10 more
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Auditory perception in Alport s Syndrome

, 2006
Alport s Syndrome is characterized by the presence of renal, hearing and visual disorders. Objective: To characterize the TOAE and the MOES activity (suppression effect) in individuals with Alport s Syndrome.
Mastroianni Kirsztajn, Gianna [UNIFESP], Kirsztajn,Gianna Mastroianni, Carla Mherlyn Viveiros, Pereira, Liliane Desgualdo [UNIFESP], Viveiros,Carla Mherlyn, Viveiros, Carla Mherlyn [UNIFESP], Pereira,Liliane Desgualdo, Gianna Mastroianni Kirsztajn, Kirsztajn, Gianna Mastroianni, Pereira, Liliane Desgualdo, Liliane Desgualdo Pereira, Viveiros, Carla Mherlyn   +11 more
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Explaining Alport syndrome—lessons from the adult nephrology clinic [PDF]

\ua9 The Author(s) 2024. Alport syndrome is a genetic kidney disease that causes worsening of kidney function over time, often progressing to kidney failure.
Ryan R, Mabillard H, Sayer JA, Gear S, Tzoumas N   +4 more
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SGLT2-Inhibition in patients with Alport syndrome [PDF]

Introduction Large-scale trials showed positive outcomes of sodium–glucose cotransporter-2 inhibitors (SGLT2i) in adults with chronic kidney disease (CKD). Whether the use of SGLT2i is safe and effective in patients with the common hereditary CKD Alport
Gale, Daniel P., Srivastava, Shalabh, Carsten Bergmann, Bernd Hohenstein, Ulrike Walden, Cerkauskaite-Kerpauskiene, Agne, Gross, Oliver,, Claes, Kathleen J., Krueger, Bastian,, Jonathan de Fallois, Zhang, Yanqin,, Tim Friede, Hall, Matthew,, Agne Cerkauskaite-Kerpauskiene, Hohenstein, Bernd,, A. Neil Turner, Simon, James,, Daniel P. Gale, Turner, A. Neil, Halbritter, Jan, Bastian Krueger, Markus Schueler, Bertrand Knebelmann, Mueller, Roman-Ulrich, Simon, James, Hee Gyung Kang, Ding, Jie, Valentine Gillion, de Fallois, Jonathan,, de Fallois, Jonathan, Friede, Tim,, Knebelmann, Bertrand, Čerkauskaitė-Kerpauskienė, Agnė,, Walden, Ulrike,, Choi, Mira, Turner, A. Neil,, Jan Boeckhaus, Srivastava, Shalabh,, Kang, Hee Gyung,, Bergmann, Carsten, Hohenstein, Bernd, Zeisberg, Michael,, Gillion, Valentine, Mueller, Roman-Ulrich,, Sayer, John A.,, Schueler, Markus, Shalabh Srivastava, Boeckhaus, Jan, Zeisberg, Michael, Gillion, Valentine,, Knebelmann, Bertrand,, Michael Zeisberg, Kathleen J. Claes, Sayer, John A., Yanqin Zhang, Polina Todorova, Zhang, Yanqin, Hall, Matthew, Halbritter, Jan,, Mira Choi, Oliver Gross, Jan Halbritter, Krueger, Bastian, Todorova, Polina,, Jie Ding, Walden, Ulrike, Todorova, Polina, Kang, Hee Gyung, Gale, Daniel P.,, Claes, Kathleen J.,, Schueler, Markus,, Gross, Oliver, Ding, Jie,, John A. Sayer, Roman-Ulrich Mueller, Boeckhaus, Jan,, James Simon, Friede, Tim, Matthew Hall, Bergmann, Carsten,, Choi, Mira,   +80 more
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