Results 91 to 100 of about 4,380 (145)

mRNA Sequencing to Identify Aberrant Splicing in X-linked Alport Syndrome. [PDF]

Kidney Int Rep
Rao D, van den Berge BT, Vulto-van Silfhout AT, Rood IM, van Wijk JAE, Bökenkamp A, Damen L, Rump P, van der Smagt JJ, Jansen J, Smeets B, Wetzels JF, Maas RJ, van Geel M.   +13 more
europepmc   +1 more source

Probable autosomal dominant Alport syndrome associated with a novel COL4A4 variant: A case report. [PDF]

Mol Genet Metab Rep
Doubinsky A, Marangoni M, Ghisdal L, Ghaleb R, Van Eycken M, Van Meerhaeghe T.   +5 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

Systematic reassessment of reported variants in individuals with suspicion of Alport spectrum disorder reveals a high rate of ambiguous results. [PDF]

Eur J Hum Genet
Riedhammer KM, Richthammer P, Westphal DS, Ćomić J, Günthner R, Braunisch MC, Büscher AK, Klein HG, Weber S, Hoefele J.   +9 more
europepmc   +1 more source

Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome. [PDF]

Nat Commun
Di H, You Z, Wang L, Sun Q, Zhang J, Lv Q, Wang P, Lai Z, Wang G, Zheng C, Gong L, Liu Z.   +11 more
europepmc   +1 more source

Genetic diagnosis of hereditary kidney disease in pediatric patients through whole-exome sequencing and mitochondrial DNA analysis. [PDF]

Kidney Res Clin Pract
Oh J, Lee K, Won D, Lee YM, Shin JI.
europepmc   +1 more source

Reduced podocyte stiffness is a feature of proteinuric kidney disease. [PDF]

Kidney Int
Severino LU, He X, Mandapati A, Zhang T, Batchu SN, Sachan V, Kennedy J, Kek K, Krizova A, Lausecker F, Yip C, Advani A, Lennon R, Chase SE, Krendel M, Yuen DA.   +15 more
europepmc   +1 more source

Hereditary Myopathy With Early Respiratory Failure Associated With an Incidental <i>COL4A5</i> Variant: A Case Report. [PDF]

Case Rep Genet
Abu Nahla U, Bleibel R, Arafeh M, Azzam SKA, Barhoum L, Ibraheem M, Altamimi M, Sultan B, Al Fallah O.   +8 more
europepmc   +1 more source

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