Results 151 to 160 of about 23,214 (166)

#1961 Cystic kidney disease in X-linked Alport syndrome children

Nephrology, Dialysis and Transplantation
It is suggested that kidney cysts may be an incompletely penetrant phenotype of Alport syndrome. The aim of the study was to estimate the prevalence of cystic kidney disease and its association with kidney function in children with X-linked Alport ...
M. Aksenova, M. Dobrynina, O. Chumak
semanticscholar   +1 more source

A Systematic Review of Pathogenic COL4A5 Variants and Proteinuria in Women and Girls With X-linked Alport Syndrome

Kidney International Reports, 2022
Judy Savige, Mary Huang
exaly  

Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling.

Nephrology, Dialysis and Transplantation, 2002
O. Gross, K. Netzer, Romy Lambrecht, S. Seibold, Manfred Weber   +4 more
semanticscholar   +1 more source

Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife

Kidney International, 2021
Constantinos Deltas, Elżbieta Kuźma-Mroczkowska, Hanna Nosek   +2 more
exaly  

Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome

Human Genetics, 2002
Kathy King, F. Flinter, V. Nihalani, P. Green   +3 more
semanticscholar   +1 more source

X-linked Alport Syndrome: A Case Report

The Internet Journal of Nephrology, 2003
openaire   +1 more source

Increased expression of MMP-2, MMP-9 (type IV collagenases/gelatinases), and MT1-MMP in canine X-linked Alport syndrome (XLAS)

Kidney International, 2003
Clifford E Kashtan, Rakesh K Singh, Dominic Cosgrove   +2 more
exaly  

Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults–an update for 2020

Pediatric Nephrology, 2020
Clifford E Kashtan, Oliver Gross
exaly  

Genetic Testing for X-Linked Alport Syndrome by Direct Sequencing of COL4A5 cDNA From Hair Root RNA Samples

American Journal of Kidney Diseases, 2007
Roser Torra, Elisabet Ars, Jose Ballarin
exaly  

Novel Variant in COL4A5 Gene Associated with X-linked Alport Syndrome

Journal of Genetics and Genome Research, 2020
exaly