Results 131 to 140 of about 2,525,206 (182)

The Common Collagen of Alport Syndrome and Arthritis: A Case Report and Review of Pathophysiology. [PDF]

Case Rep Nephrol
Mendonca CA, Haider L, Attre A, Mortensen EM, Maheshwari N.   +4 more
europepmc   +1 more source

Unusual Glomerular Abnormalities in a Patient With Combined <i>COL4A5-NPHS1</i> Variants. [PDF]

Kidney Med
Alwan A, Vincent C, Lyalin D, Mikhailov A.   +3 more
europepmc   +1 more source

<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

Hearing loss and truncating variants in Alport syndrome. [PDF]

Kidney Res Clin Pract
Yim HE.
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

Heterozygous X-linked Alport syndrome in a pregnant woman: A case report. [PDF]

SAGE Open Med Case Rep
Gee C, Nguyen MD, Le D, Hanna R.
europepmc   +1 more source

Precision Medicine in Pediatric Nephrology: From Shared Clinical Phenotypes to Genotype-Guided Diagnosis and Management. [PDF]

Genes (Basel)
Dotis J, Printza N.
europepmc   +1 more source

Heterozygous COL4A3/COL4A4 variants: diagnostic trends and clinical kidney outcomes. [PDF]

Clin Kidney J
Tanaka Y, Horinouchi T, Aoyama S, Kimura Y, Inoki Y, Ichikawa Y, Ueda C, Kitakado H, Kondo A, Sakakibara N, Nagano C, Yamamura T, Ishimori S, Nozu K.   +13 more
europepmc   +1 more source

Anticodon-edited tRNA enables translational readthrough of COL4A5 premature termination codons. [PDF]

PLoS One
Omachi K, Porter JJ, Lueck JD, Miner JH.
europepmc   +1 more source