Results 41 to 50 of about 23,214 (166)

Whole-genome sequencing identified a deep intronic COL4A5 variant causing aberrant splicing in a female patient with X-linked Alport syndrome. [PDF]

CEN Case Rep
Nagano C, Aoyama S, Kimura Y, Inoki Y, Sakakibara N, Horinouchi T, Yamamura T, Ishimori S, Nozu K.   +8 more
europepmc   +2 more sources

Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain

Kidney International, 2014
Hiroshi Kaito, Takeshi Ninchoji, Koichi Nakanishi   +2 more
exaly   +2 more sources

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

Mother-Son Kidney Transplantation in Patients With X-Linked Alport Syndrome. [PDF]

Kidney Int Rep, 2021
Katayama K, Nishikawa K, Hane A, Fujimoto M, Saiki R, Murata T, Inoue T, Dohi K.   +7 more
europepmc   +4 more sources

Clinical, Pathological and Genetic Analysis of Alport Syndrome in Children

罕见病研究, 2022
Objective To explore the phenotype-genotype correlation of Alport syndrome in children. Methods Retrospectively analyze the clinical and pathological features of 55 patients with Alport syndrome with COL4A mutations detected by second-generation ...
NI Jie, CHEN Zhi, LING Chen, LIU Xiaorong   +3 more
doaj   +1 more source

The variable course of women with X-linked Alport Syndrome [PDF]

Clinical Kidney Journal, 2013
X-linked Alport syndrome (XLAS) arises from mutations in the COL4A5 gene encoding the α5-chain of type IV collagen and is associated with hematuria, ocular abnormalities and high-tone sensorineural hearing loss. Nearly all affected males have decreased kidney function resulting in end-stage renal disease (ESRD) as early as the second decade of life. It
Raju, Priya, Cimbaluk, David, Korbet, Stephen M.   +2 more
openaire   +2 more sources

Phenotypic heterogeneity in females with X-linked Alport syndrome [PDF]

Clinical Nephrology, 2015
Aims: X-linked Alport syndrome (AS) is a monogenic inherited disorder of type IV collagen, a structural protein in the kidney and cochlea. Males typically exhibit a severe phenotype with end-stage renal disease (ESRD) and/or deafness by early adulthood.
Allred, Samuel C., Weck, Karen E., Gasim, Adil, Mottl, Amy K.   +3 more
openaire   +2 more sources

Tale of two nephropathies; co-occurring Alport syndrome and IgA nephropathy, a case report

BMC Nephrology, 2021
Background Alport Syndrome and IgA Nephropathy (IgAN) are both disorders that can cause hematuria. Alport syndrome is most commonly an X-linked disease, caused by COL4A5 mutation. Mutations of COL4A3 and COL4A4 on chromosome two are also common causes of
Aniruddha Bhattacharyya, Yuting Huang, Sarah Hussain Khan, Cinthia Beskow Drachenberg, Laura C. Malone   +4 more
doaj   +1 more source

Confocal Microscopy of the Skin in the Diagnosis of X-Linked Alport Syndrome [PDF]

Journal of Investigative Dermatology, 2003
No abstract ...
MUDA AO, MASSELLA L, GIANNAKAKIS, Konstantinos, RENIERI A, RIZZONI G, FARAGGIANA T.   +5 more
openaire   +5 more sources

Bilateral anterior lenticonus associated with Alport syndrome

GAIMS Journal of Medical Sciences, 2021
Anterior Lenticonus is a rare congenital anomaly of the eye characterized by a conical protrusion of the crystalline lens capsule and the underlying cortex in anterior chamber leading to high axial myopia; most cases are associated with Alport syndrome ...
Naurin Memon, Divyang Patel, Kavita Shah
doaj   +1 more source