Results 131 to 140 of about 23,214 (166)

WCN25-982 X-LINKED ALPORT SYNDROME IN GIRLS: SINGLE CENTER STUDY

Kidney International Reports
Marina Aksenova, Natalia Konkova, Oxana Piruzeeva, Tatiana Lepaeva, Tatiana Nikishina   +4 more
doaj   +1 more source

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Corneal endothelial cell abnormalities in X-linked Alport syndrome

Ophthalmic Genetics, 2020
Background: X-linked Alport syndrome results from the effect of COL4A5 mutations on basement membranes in the kidney, ear and eye. This study investigated individuals with X-linked Alport syndrome for corneal abnormalities.
Heather Mack, Julie Jacob, Judy Savige
exaly   +4 more sources

Genotype and X-chromosome inactivation are associated with disease severity in females with X-linked Alport syndrome

Nephrology Dialysis Transplantation
BACKGROUND AND HYPOTHESIS Male patients with X-linked Alport syndrome (XLAS) generally develop end-stage kidney disease in early or middle adulthood and show distinct genotype-phenotype correlations.
Kandai Nozu, Takayuki Okamoto, Nana Sakakibara   +2 more
exaly   +2 more sources

A Novel Mutation in a Japanese Family with X-linked Alport Syndrome

Internal Medicine, 2016
We herein report a novel mutation in a Japanese family with an X-linked Alport syndrome (AS) mutation in COL4A5. Patient 1 was a 2-year-old Japanese girl. She and her mother (patient 2) had a history of proteinuria and hematuria without renal dysfunction, deafness, or ocular abnormalities.
Tomohiko Yamamura, Shogo Minamikawa
exaly   +4 more sources

X-linked alport syndrome in females

Human Pathology, 1998
Alport syndrome (AS) is in the differential diagnosis of hematuria. Variability in clinical presentation and in the ultrastructural changes of the glomerulus can make the diagnosis of AS a challenge in female patients. The purpose of this report is to present immunostaining for glomerular basement membrane (GBM) expression of alpha5(IV) as an ...
Clifford E Kashtan, Robert E Garola
exaly   +3 more sources

Linkage studies in X-linked Alport's syndrome

Human Genetics, 1988
Four kindreds segregating for Alport's syndrome (ASLN) compatible with a X-linked inheritance were studied for linkage with polymorphic markers of the human X chromosome. No recombinant was observed between the ASLN locus and the DXS101 and DXS94 loci, the maximum lod scores were z = 3.93 and 3.50 respectively.
S, Szpiro-Tapia, G, Bobrie, M, Guilloud-Bataille, S, Heuertz, C, Julier, J, Frézal, J P, Grünfeld, M C, Hors-Cayla   +7 more
openaire   +2 more sources

Multipoint linkage analysis in X-linked Alport syndrome

Human Genetics, 1991
In order to localize the gene for the X-linked form of Alport syndrome (ATS) more precisely, we performed restriction fragment length polymorphism analysis with nine different X-chromosomal DNA markers in 107 members of twelve Danish families segregating for classic ATS or progressive hereditary nephritis without deafness.
J M, Hertz, T A, Kruse, A, Thomsen, E S, Spencer   +3 more
openaire   +2 more sources

Clinical and genetic features in autosomal recessive and X-linked Alport syndrome [PDF]

Pediatric Nephrology, 2013
This study determined the family history and clinical features that suggested autosomal recessive rather than X-linked Alport syndrome.All patients had the diagnosis of Alport syndrome and the mode of inheritance confirmed by genetic testing, and underwent examination at a single centre.Patients comprised 9 males and 6 females with autosomal recessive ...
Hayat Dagher, Helen Storey, Judy Savige
exaly   +4 more sources

Female X-linked Alport syndrome with somatic mosaicism

Clinical and Experimental Nephrology, 2016
X-linked Alport syndrome (XLAS) is a progressive, hereditary nephropathy. Although males with XLAS usually develop end-stage renal disease before 30 years of age, some men show a milder phenotype and possess somatic mosaic variants of the type IV collagen α5 gene (COL4A5), with severity depending on variant frequencies.
Kana, Yokota, Kandai, Nozu, Shogo, Minamikawa, Tomohiko, Yamamura, Keita, Nakanishi, Hisashi, Kaneda, Riku, Hamada, Yoshimi, Nozu, Akemi, Shono, Takeshi, Ninchoji, Naoya, Morisada, Shingo, Ishimori, Junya, Fujimura, Tomoko, Horinouchi, Hiroshi, Kaito, Koichi, Nakanishi, Ichiro, Morioka, Mariko, Taniguchi-Ikeda, Kazumoto, Iijima   +18 more
openaire   +2 more sources

Genetic features and kidney morphological changes in women with X-linked Alport syndrome

Journal of Medical Genetics, 2023
Background X-linked Alport syndrome (XLAS) caused by COL4A5 pathogenic variants usually has heterogeneous phenotypes in female patients. The genetic characteristics and glomerular basement membrane (GBM) morphological changes in women with XLAS need to ...
Honglin Di, Qing Wang, D. Liang, Jia-Hui Zhang, Erzhi Gao, Chun-Xia Zheng, Xiao-Min Yu, Zhi-Hong Liu   +7 more
semanticscholar   +1 more source