Results 191 to 200 of about 12,421 (264)

Novel COL4A3-COL4A5 variants and digenic inheritance in pediatric Alport syndrome from Southwestern China. [PDF]

Sci Rep
Chen JY, Jiang XM, Liao YB, Zhang YH, Yang MF, Cui JJ, Wang J, Zhang J, Wang HY, Zhao B.   +9 more
europepmc   +1 more source

Alport Syndrome [PDF]

, 2020
openaire   +1 more source

Optic Disc Drusen in a Child Diagnosed with Alport Syndrome—Case Report

, 2014
Adamu Sambo, Mona Aslam, Syam Padmanabha
openalex   +2 more sources

A rare case of dual glomerular pathology: Alport syndrome and immune complex-mediated MPGN. [PDF]

BMC Nephrol
Ozcan SG, Koc E, Murt A, Dincer MT, Gurses I, Seyahi N, Trabulus S.   +6 more
europepmc   +1 more source

Bilateral simultaneous anterior and posterior lenticonus in Alport′s syndrome

, 2005
Vasumathy Vedantham, Jyothsna Rajagopal, PraveenKrishna Ratnagiri   +2 more
openalex   +1 more source

Targeted exome sequencing for molecular diagnosis of pediatric Alport syndrome in Southwest China. [PDF]

Front Genet
Zhou C, Xiao Y, Wei X, Wang J, Liu S.
europepmc   +1 more source

Investigation of clinical and genetic characteristics of Alport syndrome using a national registry in Japan (JP-ALPS). [PDF]

Clin Exp Nephrol
Okuda Y, Mikami N, Hamada R, Hataya H, Tanaka K, Terano C, Fujita N, Miura K, Ishizuka K, Shirai Y, Kamei K, Ogura M, Okamoto T, Suzuki R, Shinozuka S, Shima Y, Oka M, Shimabukuro W, Tsukaguchi H, Inagaki T, Nishiyama K, Hashimoto T, Ito N, Yamamura T, Horinouchi T, Ishikura K, Nakanishi K, Nozu K.   +27 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

High Prevalence of Autosomal Recessive Alport Syndrome in Roma Population of Eastern Slovakia. [PDF]

Biomedicines
Koľvek G, Klimčáková L, Hrčková G, Židzik J, Podracká Ľ, Baltesová T, Kubejová K, Rosenberger J, Barkai L.   +8 more
europepmc   +1 more source

WCN26-5088 Irbesartan but not Roflumilast Ameliorates Renal Injury in a Col4a5 R471* Mutant Mouse Model of Alport Syndrome and CKD

Masami Yamamoto, Masashi Aoyama, Mitsuharu Matsumoto, Takumi Sugawara, Ryosuke Kobayashi, Ryotaro Hari, Yasunori Nio   +6 more
openalex   +1 more source