Results 91 to 100 of about 6,803 (205)

Outcomes of male patients with alport syndrome undergoing renal replacement therapy [PDF]

, 2012
Item does not contain fulltextBACKGROUND AND OBJECTIVES: Patients with the hereditary disease Alport syndrome commonly require renal replacement therapy (RRT) in the second or third decade of life. This study compared age at onset of RRT, renal allograft,
Palsson, R., Temme, Johanna, Kramar, Reinhard, Johanna Temme, Metcalfe, Wendy, Finne, Patrik, Hoitsma, A.J. (Andries), Müller, G.-A. (Gerhard-Anton), Kitty J. Jager, Dekker, F.W., Anna V. Reisæter, Faical Jarraya, Heaf, James G, Julio P. Santos, James G. Heaf, Palsson, Runolfur, Frederick Peters, Muller, G.A., Patrik Finne, Postorino, M., Wendy Metcalfe, Pietro Ravani, Anneke Kramer, Lange, K. (Katharina), Andries J. Hoitsma, Mueller, Gerhard-Anton, Postorino, M. (Maurizio), Katharina Lange, Jager, K.J., Jarraya, Faical, Jager, K.J. (Kitty), Friedo W. Dekker, Verrina, E., Lange, K., Verrina, Enrico, Reinhard Kramar, Müller, Gerhard-Anton, Reisaeter, Anna V., Jager, Kitty J., Zurriaga, Oscar, Kramar, R., Santos, Julio P., Reisæter, Anna V., Lange, Katharina, Dekker, Friedo W, Hoitsma, Andries J, Ravani, P., Santos, Julio P, Heaf, J.G., Postorino, Maurizio, Temme, J. (Johanna), Oscar Zurriaga, Reisæter, Anna V, Peters, Frederick, Santos, J.P., Verrina, E. (Enrico), Dekker, Friedo W., Oliver Gross, Temme, J., Enrico Verrina, Hoitsma, A.J., Jarraya, F., Maurizio Postorino, Peters, F. (Frederick), Peters, F., Dekker, F.W. (Friedo), Gerhard-Anton Müller, Kramer, A., Gross, Oliver, Finne, P. (Patrik), Runolfur Palsson, Finne, P., Gross, O., Gross, O. (Oliver), Zurriaga, O., Kramer, Anneke, Metcalfe, W., Reisaeter, A.V., Jager, Kitty J, Ravani, Pietro, Hoitsma, Andries J., Heaf, James G.   +81 more
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Does Alport syndrome affect the basement membrane of peritoneal vessels?

, 2010
Alport syndrome and encapsulating peritoneal sclerosis (EPS) are both rare diseases. Their joint occurrence is highly unlikely. Two patients at our center with Alport syndrome developed EPS. We therefore hypothesized that Alport syndrome might predispose
Krediet, Raymond T., Sampimon, Denise E., Struijk, Dirk G., Vlijm, Anniek   +3 more
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Increased in vivo transduction of AAV-9 cargo in Alport podocytes [version 1; peer review: 1 approved, 2 approved with reservations, 1 not approved]

Wellcome Open Research
Background Alport syndrome is a rare genetic disorder characterized by progressive kidney disease, hearing loss, and eye abnormalities. It is caused by variants in the COL4A3, COL4A4 or COL4A5 genes, which disrupt the synthesis, secretion and assembly of
Emily Williams, Kevin A. Goncalves, Shota Kaseda, Antony Adamson, Maryline Fresquet, Andrew Steinsapir, David R. Sherwood, Rachel Lennon, Gema Bolas   +8 more
doaj   +1 more source

Literary Research on Alport Syndrome

, 2014
Alport syndrome is rare genetic disorder of the glomerulus in the kidneys that can be X-linked, Autosomal recessive, or Autosomal dominant in nature. Clinical manifestation includes hearing loss, hematuria, proteinuria, and hypertension (Cheungpasitporn,
Jain, Shailendra
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Genetic heterogeneity of Alport syndrome

, 1985
Genetic heterogeneity of Alport syndrome. Forty-one families have been studied with stringent diagnostic criteria of Alport syndrome: proven renal disease with hematuria affecting at least two relatives, neural hearing loss in at least one affected ...
Chompert, Agnès, Grünfeld, Jean-Pierre, Gubler, Marie-Claire, Bois, Etienne, Feingold, Josué, Broyer, Michel   +5 more
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A monoclonal antibody marker for Alport syndrome identifies the Alport antigen as the α5 chain of type IV collagen

, 1994
A monoclonal antibody marker for Alport syndrome identifies the Alport antigen as the α5 chain of type IV collagen. The nephropathy of Alport syndrome is associated with unique abnormalities of glomerular basement membranes and is caused in many families
Kalluri, Raghuram, Ding, Jie, Kashtan, Clifford E., Fan, WeiWei, Michael, Alfred F., Sun, Mae Jane, Kleppel, Mary M., Neilson, Eric G.   +7 more
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Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome [PDF]

, 2016
Alport syndrome (AS) is a genetic disease characterized by haematuric glomerulopathy variably associated with hearing loss and anterior lenticonus.
Gale, Daniel P., Morton, Lori C. G., Blatt, Dave, Rheault, Michelle N., Liu, Shiguang, Deltas, Constantinos, Xue, Yong, Zhang, Y., Lagas, Sharon, Turner, A. Neil, Lennon, Rachel, Knebelman, Bertrand, Gear, Susie, Schachter, Asher D., Savva, Isavella, Renault, Daniel, Ding, Jie, Miner, Jeffrey H., Rheault, Michelle, Lennon, Rachel; id_orcid, Miner, Jeffrey, Flinter, Frances, Ars, Elisabet, Kashtan, Clifford E, Kashtan, Clifford E., Prunotto, Marco, Heidet, Laurence, Zhang, Yanqin, Torra, Roser, Gale, Daniel, Rheault, Michelle N, Schachter, Asher D, Kashtan, Clifford, Perin, Laura, Schachter, Asher, RENIERI, ALESSANDRA, Judge, Parminder, Gross, Oliver, Morton, Lori, Baigent, Colin, Gale, Daniel P, Torra Balcells, Roser, Friede, Tim, Miner, Jeffrey H, Blem, Jacqui, MARI, FRANCESCA, Morton, Lori C. G, Vallee, Sebastien, Skelding, Jules, Huang, Michael, Schifter, Julia, Universitat Autònoma de Barcelona, Savige, Judith, ARIANI, FRANCESCA   +53 more
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Mice as Early Biomarkers of Alport Syndrome

, 2015
The efficiency of the inhibition of the angiotensin converting enzyme, the most widely used therapy for the Alport syndrome, depends on the onset of the therapy-the earlier the better.
Heidrun Rhode, Petra Muckova, Mandy Alert, Wendler, Sindy, Diana Rubel, Muckova, Petra, Gross, Oliver, Rita Büchler, Rubel, Diana, Rhode, Heidrun, Buechler, Rita, Oliver Gross, Alert, Mandy, Sindy Wendler   +13 more
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Expert consensus guidelines for the genetic diagnosis of Alport syndrome [PDF]

, 2019
Recent expert guidelines recommend genetic testing for the diagnosis of Alport syndrome. Here, we describe current best practice and likely future developments.
Yau, M, Hoefele, J, Nagel, M, Shagam, L, Garosi, G, Storey, H, Ars, E, Ding, J, Torra, R, Gale, DP, Bruttini, M, Flinter, F, Ariani, F, Deltas, C, Renieri, A, Gross, O, Mari, F, Savige, J   +17 more
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Bilateral giant macular holes: A rare manifestation of Alport syndrome

, 2018
Purpose: Alport syndrome is a rare condition characterized by the clinical triad of nephritic syndrome, sensorineural deafness, and ophthalmological alterations.
Cristina Fonseca, Miguel Raimundo, João Figueira, Rufino Silva   +3 more
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