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1
Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.
J Clin Invest. 1996 Sep 1;98(5):1114-8. doi: 10.1172/JCI118893.
2
[Collagen IV (alpha3-alpha4) nephropathy].
Nefrologia. 2005;25 Suppl 2:29-32.
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The clinical spectrum of type IV collagen mutations.
Hum Mutat. 1997;9(6):477-99. doi: 10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#.
5
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.
Nephrol Dial Transplant. 2009 May;24(5):1464-71. doi: 10.1093/ndt/gfn681. Epub 2009 Jan 7.
6
Collagen type IV nephropathy: genetic heterogeneity examinations in affected Hungarian families.
Mol Cell Probes. 2011 Feb;25(1):28-34. doi: 10.1016/j.mcp.2010.10.001. Epub 2010 Oct 14.
8
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.
Kidney Int. 2002 Jun;61(6):1947-56. doi: 10.1046/j.1523-1755.2002.00379.x.
9
[Alport syndrome or progressive hereditary nephritis with hearing loss].
Nephrol Ther. 2007 Jun;3(3):113-20. doi: 10.1016/j.nephro.2007.03.005. Epub 2007 May 8.
10
Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases.
Am J Kidney Dis. 2003 Nov;42(5):952-9. doi: 10.1016/j.ajkd.2003.08.002.

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1
Uncommon Factors Leading to Nephrotic Syndrome.
Biomedicines. 2025 Aug 5;13(8):1907. doi: 10.3390/biomedicines13081907.
2
Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome.
BMC Med Genomics. 2024 Jul 8;17(1):181. doi: 10.1186/s12920-024-01953-0.
3
Reclassification of Genetic Testing Results: A Case Report Demonstrating the Need for Structured Re-Evaluation of Genetic Findings.
Can J Kidney Health Dis. 2024 Apr 14;11:20543581241242562. doi: 10.1177/20543581241242562. eCollection 2024.
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Kidney Disease Associated With Mono-allelic and Variants: A Case Series of 17 Families.
Kidney Med. 2023 Feb 1;5(4):100607. doi: 10.1016/j.xkme.2023.100607. eCollection 2023 Apr.
5
Identification of variants in Chinese patients with familial hematuria.
Front Genet. 2023 Jan 9;13:1064491. doi: 10.3389/fgene.2022.1064491. eCollection 2022.
6
Mutation Analysis of Thin Basement Membrane Nephropathy.
Genes (Basel). 2022 Oct 2;13(10):1779. doi: 10.3390/genes13101779.
9
Trimerization and Genotype-Phenotype Correlation of Mutants in Alport Syndrome.
Kidney Int Rep. 2020 Jan 30;5(5):718-726. doi: 10.1016/j.ekir.2020.01.008. eCollection 2020 May.

本文引用的文献

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Aberrant splicing of the COL4A5 gene in patients with Alport syndrome.
Hum Mol Genet. 1994 Feb;3(2):317-22. doi: 10.1093/hmg/3.2.317.
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Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome.
Hum Mol Genet. 1994 Aug;3(8):1269-73. doi: 10.1093/hmg/3.8.1269.
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Key role for a minor collagen.
Nat Genet. 1995 Jan;9(1):6-8. doi: 10.1038/ng0195-6.
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Glomerular basement membrane attenuation in familial nephritis and "benign" hematuria.
J Pediatr. 1982 Sep;101(3):358-65. doi: 10.1016/s0022-3476(82)80058-9.
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Quantitative estimation of cells in urine. An evaluation of the Addis count.
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