Results 101 to 110 of about 3,450 (166)

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

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

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

Determining Genetic Cause of Posterior Staphylomas in Eyes with Pathologic Myopia by Whole Exome Sequencing. [PDF]

Ophthalmol Sci
Wang Z, Chen C, Wu Y, Nagata Y, Tanaka T, Xie S, Lu H, Wang Y, Xiong J, Zhang L, Kamoi K, Ohno-Matsui K.   +11 more
europepmc   +1 more source

Whole-genome sequencing identified a deep intronic COL4A5 variant causing aberrant splicing in a female patient with X-linked Alport syndrome. [PDF]

CEN Case Rep
Nagano C, Aoyama S, Kimura Y, Inoki Y, Sakakibara N, Horinouchi T, Yamamura T, Ishimori S, Nozu K.   +8 more
europepmc   +1 more source

Familial <i>WT1</i>-associated nephropathy - 46, XY Frasier syndrome and 46, XX steroid-resistant nephrotic syndrome in female siblings: A case report and review of literature. [PDF]

World J Nephrol
Khandelwal MH, Piparva KG, Parchwani D.
europepmc   +1 more source

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

Kidney Res Clin Pract
Yim HE.
europepmc   +1 more source

Clinical features of hearing loss and genotype-phenotype correlations in Alport syndrome caused by COL4A4 or COL4A5 variants. [PDF]

Sci Rep
Matsuzaki S, Nara K, Mutai H, Katsunuma S, Sakamoto H, Hirose M, Wakisaka N, Adachi N, Asanuma S, Fujioka M, Matsunaga T.   +10 more
europepmc   +1 more source

Coincidence of autosomal dominant polycystic kidney disease and Alport syndrome: a case report and literature review. [PDF]

CEN Case Rep
Liu R, Liu F.
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