Results 31 to 40 of about 1,147,808 (181)

"Preliminary Report: EVIDENCE OF AUTOSOMAL RECESSIVE FORM OF ALPORT SYNDROME IN IRAN " [PDF]

Iranian Journal of Public Health, 1993
Alport syndrome is a progressive hereditary nephritis leading to renal failure. Nearly all of the documents declare that Alport syndrome is inherited as X-linked dominant trait and reports of autosomal inheritance form is very rare.
D.D. Farhud; T.Rezaie Jami; M.R. Khosh-sorour; M. Islami; B.Broumand
doaj   +2 more sources

Case Report: Preimplantation Genetic Testing and Pregnancy Outcomes in Women With Alport Syndrome

Frontiers in Genetics, 2021
BackgroundAlport syndrome, a monogenic kidney disease, is characterized by progressive hemorrhagic nephritis, sensorineural hearing loss, and ocular abnormalities.
Wei-Hui Shi, Wei-Hui Shi, Mu-Jin Ye, Mu-Jin Ye, Song-Chang Chen, Song-Chang Chen, Jun-Yu Zhang, Jun-Yu Zhang, Yi-Yao Chen, Yi-Yao Chen, Zhi-Yang Zhou, Zhi-Yang Zhou, Ning-Xin Qin, Ning-Xin Qin, Xuan-You Zhou, Xuan-You Zhou, Nai-Xin Xu, Nai-Xin Xu, Zi-Ru Jiang, Zi-Ru Jiang, Jing Lin, Jing Lin, He-Feng Huang, He-Feng Huang, Chen-Ming Xu, Chen-Ming Xu   +25 more
doaj   +1 more source

Women and Alport syndrome [PDF]

Pediatric Nephrology, 2011
X-linked Alport syndrome (XLAS) is caused by mutations in type IV collagen causing sensorineural hearing loss, eye abnormalities, and progressive kidney dysfunction that results in near universal end-stage renal disease (ESRD) and the need for kidney transplantation in affected males.
openaire   +2 more sources

Severe restless legs syndrome in a family with Alport syndrome [PDF]

, 2021
Background Restless legs syndrome (RLS) is a common sleep-related movement disorder characterized by an urge to move the legs during inactivity, especially at evening-night.
Andrea Rinaldi, Raffaele Ferri, Davide Sparasci, Mauro Manconi, Sparasci, Davide, Pietro Cippà, Cippà, Pietro, Manconi, Mauro, Rossinelli, Andrea, Ferri, Raffaele, Rinaldi, Andrea, Andrea Rossinelli   +11 more
core   +3 more sources

Clinical trial recommendations for potential Alport syndrome therapies

, 2020
Alport syndrome is experiencing a remarkable increase in preclinical investigations. To proactively address the needs of the Alport syndrome community, as well as offer clarity for future clinical research sponsors, the Alport Syndrome Foundation hosted ...
Dunleavy, Marty, Lieberman, Kenneth, Rheault, Michelle N., Manuel, Raymond, Appel, Gerald, Morgenstern, Bruce, Hariri, Ali, Reed, Janine, Lagas, Sharon, Cook, Heather, Meyer, Colin, Simon, James F., Bonebrake, Lisa, Gear, Susie, Simon, James, Mercer, Alex, Weinstock, B. André, Tang, Winson, Miner, Jeffrey H., Rheault, Michelle, Lennon, Rachel; id_orcid, Miner, Jeffrey, Jarad, George, Feldman, David, Nozu, Kandai, Nakanishi, Koichi, Parziale, Gina, Binaso, Kristen, Weinstock, André, Kashtan, Clifford E., Prunotto, Marco, Markels, Michael, Blank, Melanie, Dahan, Karin, Torra, Roser, Ricardo, Sharon, Goldsberry, Angela, Melia, Lisa Anne, Kumnick, Phil, Kashtan, Clifford, Fornoni, Alessia, Perin, Laura, Barua, Moumita, Feldman, David L., Desacco, Stephano, Pariser, Anne, Thompson, Aliza, Gross, Oliver, Komers, Radko, Chin, Melanie, Baigent, Colin, Licht, Christoph, Modur, Vijay, Kai, Hirofumi, Turner, Neil   +54 more
core   +2 more sources

A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome. [PDF]

PLoS ONE, 2015
Alport syndrome is a genetic condition that results in hematuria, progressive renal impairment, hearing loss, and occasionally lenticonus and retinopathy.
Barshagul T Baikara, Elena V Zholdybayeva, Saule E Rakhimova, Nazym B Nigmatullina, Kuvat T Momynaliev, Yerlan M Ramanculov   +5 more
doaj   +1 more source

Sporadic Case of Heterozygous X-linked Alport Syndrome

Glomerular Diseases, 2023
Background: Alport syndrome is a genetically and phenotypically heterogeneous disorder that can be transmitted in an X-linked, autosomal recessive, or autosomal dominant fashion and can affect glomerular, cochlear, and ocular basement membranes.
Jonathan Zuckerman, Rachana Srivastava
doaj   +1 more source

Difficulties in differentiating thin basement membrane disease from Alport syndrome

, 2016
We examined a group of 83 patients (57 children and 26 adults) with thin basement membrane disease and 17 patients with Alport syndrome. We compared the clinical data and, above all, the morphological patterns of both disease entities, with particular ...
Aldona Woźniak, Wiesława Salwa-Żurawska, Jakub Żurawski, Paweł Burchardt, Marcin Grochowalski, Monika Seget, Jerzy Moczko   +6 more
core   +1 more source

Case report: A case report of Alport syndrome caused by a novel mutation of COL4A5

Frontiers in Genetics, 2023
Alport syndrome (#308940) is an X-linked genetic disease with clinical manifestations, such as hematuria, proteinuria, renal insufficiency, and end-stage renal disease.
Shujun Pan, Rizhen Yu, Shikai Liang
doaj   +1 more source

A family with Alport’s syndrome [PDF]

Postgraduate Medical Journal, 1970
SummaryAlport’s syndrome has been diagnosed in members of four successive generations of one family.Renal biopsy was performed in two of these patients. The syndrome is briefly reviewed.
openaire   +2 more sources