Results 71 to 80 of about 1,147,808 (181)

A case of concurrent Alport syndrome and Nail-patella syndrome posing diagnostic challenge without genetic testing

BMC Nephrology
Hereditary glomerular basement membrane disease is a group of conditions caused by genetic mutations in the development and maintenance of the glomerular basement membrane.
Winston Wing-Shing Fung, Maggie Lo-Yee Yau, Pensi Ping Hei Lam, Cheuk-Chun Szeto, Shuk-Ching Chong, Kai-Ming Chow   +5 more
doaj   +1 more source

Alport's syndrome. [PDF]

Journal of Medical Genetics, 1997
Alport's syndrome (AS) is a progressive glomerulonephritis which is associated with high tone sensorineural deafness and characteristic eye signs. It accounts for 0.6% of all patients who start renal replacement therapy in Europe, and is most commonly inherited as an X linked disorder with a gene frequency of 1 in 5000.
openaire   +2 more sources

A monoclonal antibody marker for Alport syndrome identifies the Alport antigen as the α5 chain of type IV collagen [PDF]

, 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
core   +1 more source

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

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
core   +1 more source

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
core  

Characterization of Sensorineural Hearing Loss in Children with Alport Syndrome

, 2020
Most adults with Alport syndrome (AS) suffer from progressive sensorineural hearing loss. However, little is known about the early characteristics of hearing loss in children with AS. As a part of the EARLY PRO-TECT Alport trial, this study was the first
on behalf of the GPN Study Group, Celine Storz, Oliver Gross, Jan Boeckhaus, Nicola Strenzke, EARLY PRO-TECT Alport Investigators   +5 more
core   +1 more source

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
core   +1 more source

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  

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
doaj   +1 more source