Results 111 to 120 of about 23,214 (166)

X-Linked and Autosomal Recessive Alport Syndrome

Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3 / COL4A4 (recessive) genes. This study examined 754 previously- unpublished variants in these genes from individuals referred for genetic testing in 12 accredited diagnostic laboratories worldwide, in addition to all published COL4A5, COL4A3 and COL4A4 variants in the LOVD ...
Savige, Judith, Storey, Helen||, Il Cheong, Hae, Gyung Kang, Hee, Park, Eujin, Hilbert, Pascale||, Persikov, Anton, Torres-Fernandez, Carmen, Ars, Elisabet||, Torra Balcells, Roser||, Hertz, Jens Michael, Thomassen, Mads||, Shagam, Lev, Wang, Dongmao, Wang, Yanyan, Flinter, Frances, Nagel, Mato   +16 more
openaire   +1 more source

A family with X‐linked Alport syndrome confirmed by skin biopsy [PDF]

Nephrology Dialysis Transplantation, 2002
Atsushi, Komatsuda, Hiroshi, Ohtani, Hideki, Wakui, Naoki, Tokuda, Yasushi, Nakamoto, Yoshikazu, Sado, Ichiroh, Naitoh, Hirokazu, Imai   +7 more
openaire   +2 more sources

Temporal retinal thinning might be an early diagnostic indicator in male pediatric X-linked Alport syndrome. [PDF]

Int J Ophthalmol, 2022
Zhu RL, Zhao L, Gu XP, Zhang YD, Wang F, Zhang YQ, Yang L.   +6 more
europepmc   +1 more source

A novel COL4A4 gene variant (c.1856G>A): from a focal segmental glomerulosclerosis case to a family with Alport syndrome

Revista de Nefrología, Diálisis y Trasplante, 2019
Alport syndrome, also known as hereditary nephritis, is an inherited progressive form of glomerular disease that is often associated with sensorineural hearing loss and ocular abnormalities.
Sibel Ersan, Ozgur Kirbiyik, Turker Sarikaya, Merve Saka Guvenc, Tugba Karadeniz   +4 more
doaj  

Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome.

Journal of the American Society of Nephrology, 2018
T. Horinouchi, K. Nozu, Tomohiko Yamamura, Shogo Minamikawa, Takashi Omori, K. Nakanishi, J. Fujimura, A. Ashida, Mineaki Kitamura, M. Kawano, W. Shimabukuro, Chizuko Kitabayashi, A. Imafuku, Keiichi Tamagaki, Koichi Kamei, K. Okamoto, S. Fujinaga, Masafumi Oka, T. Igarashi, Akinori Miyazono, E. Sawanobori, R. Fujimaru, Koichi Nakanishi, Yuko Shima, M. Matsuo, Ming Ye, Yoshimi Nozu, N. Morisada, H. Kaito, K. Iijima   +29 more
semanticscholar   +1 more source

Publisher Correction: Creation of X-linked Alport syndrome rat model with Col4a5 deficiency. [PDF]

Sci Rep, 2021
Namba M, Kobayashi T, Kohno M, Koyano T, Hirose T, Fukushima M, Matsuyama M.   +6 more
europepmc   +1 more source

Mouse model of X-linked Alport syndrome with K229X mutation in the COL4A5 gene. [PDF]

Sci Rep
Zhang R, Bai PJ, Jiang W, Liu X, Zhang S, Wang Z, Shao L.   +6 more
europepmc   +1 more source

X-linked Alport syndrome-diffuse leiomyomatosis [PDF]

, 2020
openaire   +1 more source

Modelling X-linked Alport Syndrome With Induced Pluripotent Stem Cell-Derived Podocytes. [PDF]

Kidney Int Rep, 2021
Lau RWK, Fisher C, Phan TK, Ozkocak DC, Selby J, Saini S, Mukundan S, Wise AF, Savige J, Ho Poon IK, Haynes J, Ricardo SD.   +11 more
europepmc   +1 more source

Case Report: Early diagnosis of X-linked Alport syndrome in a pediatric patient and literature review. [PDF]

Front Pediatr
Gong Y, Guo H, Yang Z.
europepmc   +1 more source