Results 121 to 130 of about 3,403 (162)

<i>LAMA5</i> pathogenic variant uncovers a novel autoantigen in membranous nephropathy. [PDF]

Genes Dis
Xiao H, Yin H, Shi Y, Zhou X, Tan Q, Qiu L, Xiong C, Chen W, Yang X, Jiang W, Yang H, Li Q.   +11 more
europepmc   +1 more source

Kidney transplantation in Alport syndrome: A genotype-guided case series and literature review. [PDF]

Turk J Surg
Gavrilovska-Brzanov A, Sulejmani H, Dohcev S, Spasovski G, Georgievski N, Trifunovski A, Trajkovski D, Jovanovski Srceva M, Brzanov N.   +8 more
europepmc   +1 more source

Coexisting genetic kidney disease explains many cases of 'familial' IgA nephropathy where the proband has biopsy-confirmed mesangial IgA deposits. [PDF]

Front Med (Lausanne)
Li Y, Zhang J, Yin ZJ, Zhou Z, Huang B, Mahmood K, Colville D, Barit D, Auwardt R, Fassett R, Paizis K, Ierino F, Pianta T, Langsford D, Huang M, Savige J.   +15 more
europepmc   +1 more source

<i>PAPPA2</i> c.392G>C Heterozygous Mutation Associates Primary Open-Angle Glaucoma in a Chinese Family. [PDF]

Hum Mutat
Wang G, Guo Z, Ren J, Zhang G, Tao H, Liu Y, Zheng S, Zhang X, Wang D, Zhao R, Cui H, Zhu S, Xu H, Duan S, Li H.   +14 more
europepmc   +1 more source

Systematic Review of IgA Nephropathy Coexisting With Alport Syndrome. [PDF]

Kidney Int Rep
Ying D, Zhang Y, Ma Y, Wei C, Fan J, Shi P, Wang M, Zhang J.   +7 more
europepmc   +1 more source

Clinical impact of genetic testing in inherited kidney diseases. [PDF]

Clin Kidney J
Merz LM, Stopp S, Krey I, Baalmann F, Marczak E, Liebmann N, Hempel O, Krüger BM, Engesser M, Teichmann AC, Schnabel F, Jamra RA, Lemke J, Bergmann C, Lindner TH, de Fallois J, Münch J, Halbritter J, Dittrich K, Petzold F.   +19 more
europepmc   +1 more source

Case Report: Neonatal nephropathy with polycystic appearance in child harboring WT1 variant. [PDF]

Front Pediatr
Nguyen TTT, Tran QTH, Nguyen HTT, Pham TQM, Tran D, Fukui K, Tsukaguchi H.   +6 more
europepmc   +1 more source

Expanding the <i>COL4A4</i> variant spectrum: genotype-phenotype correlation in 19 Chinese children using updated Alport kidney disease classification. [PDF]

Ren Fail
Huang Y, Lin H, Chen H, Zhu Q, Jiang X, Huang XF, Wang D.   +6 more
europepmc   +1 more source