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Alport AC. Hereditary familial congenital haemorrhagic nephritis. Br Med J 1: 504-506, 1927.","DOI":"10.1136\/bmj.1.3454.504"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Jais JP, Knebelmann B, Giatras I, et al. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a &quot;European Community Alport Syndrome Concerted Action&quot; study. J Am Soc Nephrol 14: 2603-2610, 2003.","DOI":"10.1097\/01.ASN.0000090034.71205.74"},{"key":"3","unstructured":"3. Jais JP, Knebelmann B, Giatras I, et al. X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol 11: 649-657, 2000."},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Barker DF, Denison JC, Atkin CL, Gregory MC. Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP. 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Tissue-specific distribution of an alternatively spliced COL4A5 isoform and non-random X chromosome inactivation reflect phenotypic variation in heterozygous X-linked Alport syndrome. Nephrol Dial Transplant 21: 1582-1587, 2006.","DOI":"10.1093\/ndt\/gfl051"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Kubota T. A new assay for the analysis of X-chromosome inactivation in carriers with an X-linked disease. Brain Dev 23 (Suppl 1): S177-S181, 2001.","DOI":"10.1016\/S0387-7604(01)00361-8"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Guo C, Van Damme B, Vanrenterghem Y, Devriendt K, Cassiman JJ, Marynen P. Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele. J Clin Invest 95: 1832-1837, 1995.","DOI":"10.1172\/JCI117862"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Nakanishi K, Iijima K, Kuroda N, et al. 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Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. Nephrol Dial Transplant 17: 1218-1227, 2002.","DOI":"10.1093\/ndt\/17.7.1218"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Temme J, Peters F, Lange K, et al. Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations. Kidney Int 81: 779-783, 2012.","DOI":"10.1038\/ki.2011.452"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Gross O, Licht C, Anders HJ, et al. Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy. Kidney Int 81: 494-501, 2012.","DOI":"10.1038\/ki.2011.407"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F. Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. 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