6.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J
. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17(5):405-24.
PMC: 4544753.
DOI: 10.1038/gim.2015.30.
View
7.
Fallerini C, Baldassarri M, Trevisson E, Morbidoni V, La Manna A, Lazzarin R
. Alport syndrome: impact of digenic inheritance in patients management. Clin Genet. 2016; 92(1):34-44.
DOI: 10.1111/cge.12919.
View
8.
Kamiyoshi N, Nozu K, Fu X, Morisada N, Nozu Y, Ye M
. Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome. Clin J Am Soc Nephrol. 2016; 11(8):1441-1449.
PMC: 4974872.
DOI: 10.2215/CJN.01000116.
View
9.
Savige J, Renieri A, Ars E, Daga S, Pinto A, Rothe H
. Digenic Alport Syndrome. Clin J Am Soc Nephrol. 2022; 17(11):1697-1706.
PMC: 9718039.
DOI: 10.2215/CJN.03120322.
View
10.
Gibson J, Fieldhouse R, Chan M, Sadeghi-Alavijeh O, Burnett L, Izzi V
. Prevalence Estimates of Predicted Pathogenic Variants in a Population Sequencing Database and Their Implications for Alport Syndrome. J Am Soc Nephrol. 2021; 32(9):2273-2290.
PMC: 8729840.
DOI: 10.1681/ASN.2020071065.
View
11.
Kruegel J, Rubel D, Gross O
. Alport syndrome--insights from basic and clinical research. Nat Rev Nephrol. 2012; 9(3):170-8.
DOI: 10.1038/nrneph.2012.259.
View
12.
Yamamura T, Nozu K, Fu X, Nozu Y, Ye M, Shono A
. Natural History and Genotype-Phenotype Correlation in Female X-Linked Alport Syndrome. Kidney Int Rep. 2017; 2(5):850-855.
PMC: 5733817.
DOI: 10.1016/j.ekir.2017.04.011.
View
13.
Savige J, Storey H, Cheong H, Kang H, Park E, Hilbert P
. X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations. PLoS One. 2016; 11(9):e0161802.
PMC: 5023110.
DOI: 10.1371/journal.pone.0161802.
View
14.
Yamamura T, Horinouchi T, Nagano C, Omori T, Sakakibara N, Aoto Y
. Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome. Kidney Int. 2020; 98(6):1605-1614.
DOI: 10.1016/j.kint.2020.06.038.
View
15.
Jais J, Knebelmann B, Giatras I, Marchi M, Rizzoni G, Renieri A
. X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol. 2000; 11(4):649-657.
DOI: 10.1681/ASN.V114649.
View
16.
Uemura O, Nagai T, Ishikura K, Ito S, Hataya H, Gotoh Y
. Creatinine-based equation to estimate the glomerular filtration rate in Japanese children and adolescents with chronic kidney disease. Clin Exp Nephrol. 2013; 18(4):626-33.
DOI: 10.1007/s10157-013-0856-y.
View
17.
Horinouchi T, Nozu K, Yamamura T, Minamikawa S, Omori T, Nakanishi K
. Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome. J Am Soc Nephrol. 2018; 29(8):2244-2254.
PMC: 6065097.
DOI: 10.1681/ASN.2018030228.
View
18.
Matsuo S, Imai E, Horio M, Yasuda Y, Tomita K, Nitta K
. Revised equations for estimated GFR from serum creatinine in Japan. Am J Kidney Dis. 2009; 53(6):982-92.
DOI: 10.1053/j.ajkd.2008.12.034.
View
19.
Furlano M, Martinez V, Pybus M, Arce Y, Crespi J, Venegas M
. Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study. Am J Kidney Dis. 2021; 78(4):560-570.e1.
DOI: 10.1053/j.ajkd.2021.02.326.
View
20.
Yokota K, Nozu K, Minamikawa S, Yamamura T, Nakanishi K, Kaneda H
. Female X-linked Alport syndrome with somatic mosaicism. Clin Exp Nephrol. 2016; 21(5):877-883.
DOI: 10.1007/s10157-016-1352-y.
View