Results 101 to 110 of about 4,380 (145)

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

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

Alport: Renaming an Extended Clinical Spectrum. [PDF]

J Am Soc Nephrol
Lennon R, Miner JH, Savige J, Weinstock BA, Gear S.   +4 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

Autosomal Dominant Alport Syndrome. [PDF]

J Am Soc Nephrol
Savige J, Huang M.
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

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

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