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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1969 1
1982 1
1988 1
2002 1
2003 1
2005 1
2006 1
2011 1
2013 1
2014 1
2015 1
2017 1
2019 1
2020 1
2023 1
2024 0

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13 results

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Page 1
Benign familial hematuria.
Marks MI, Drummond KN. Marks MI, et al. Pediatrics. 1969 Oct;44(4):590-3. Pediatrics. 1969. PMID: 4899625 No abstract available.
Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.
Deltas C, Papagregoriou G, Louka SF, Malatras A, Flinter F, Gale DP, Gear S, Gross O, Hoefele J, Lennon R, Miner JH, Renieri A, Savige J, Turner AN. Deltas C, et al. Genes (Basel). 2023 Aug 25;14(9):1686. doi: 10.3390/genes14091686. Genes (Basel). 2023. PMID: 37761826 Free PMC article. Review.
The hypothesis that a subgroup of patients coinherit additional genetic modifiers that exacerbate their clinical course has been investigated by several researchers. Here, we review all publications that describe the potential role of candidate genetic modifiers in patient …
The hypothesis that a subgroup of patients coinherit additional genetic modifiers that exacerbate their clinical course has been inve …
Hematuria and risk for end-stage kidney disease.
Vivante A, Calderon-Margalit R, Skorecki K. Vivante A, et al. Curr Opin Nephrol Hypertens. 2013 May;22(3):325-30. doi: 10.1097/MNH.0b013e32835f7241. Curr Opin Nephrol Hypertens. 2013. PMID: 23449218 Review.
PURPOSE OF REVIEW: Hematuria is a common clinical finding requiring medical attention and poses several clinical challenges. The main challenge is to predict the future risk for chronic kidney disease and therefore to design a long-term follow-up evaluation and treatment p …
PURPOSE OF REVIEW: Hematuria is a common clinical finding requiring medical attention and poses several clinical challenges. The main challe …
Benign familial hematuria.
Yoshikawa N, Matsuyama S, Iijima K, Maehara K, Okada S, Matsuo T. Yoshikawa N, et al. Arch Pathol Lab Med. 1988 Aug;112(8):794-7. Arch Pathol Lab Med. 1988. PMID: 3395216
They were from 43 families showing neither deafness, heavy proteinuria, nor chronic renal failure and had a nonprogressive course. Light microscopy of renal biopsy specimens showed little or no glomerular changes. ...
They were from 43 families showing neither deafness, heavy proteinuria, nor chronic renal failure and had a nonprogressive course. Li …
Type-IV collagen related diseases.
Pescucci C, Longo I, Bruttini M, Mari F, Renieri A. Pescucci C, et al. J Nephrol. 2003 Mar-Apr;16(2):314-6. J Nephrol. 2003. PMID: 12768082 Review.
Heterozygous Urinary Abnormality-Causing Variants of COL4A3 and COL4A4 Affect Severity of Autosomal Recessive Alport Syndrome.
Horinouchi T, Yamamura T, Nagano C, Sakakibara N, Ishiko S, Aoto Y, Rossanti R, Nakanishi K, Shima Y, Morisada N, Iijima K, Nozu K. Horinouchi T, et al. Kidney360. 2020 Jul 16;1(9):936-942. doi: 10.34067/KID.0000372019. eCollection 2020 Sep 24. Kidney360. 2020. PMID: 35369551 Free PMC article.
BACKGROUND: Autosomal recessive Alport syndrome (ARAS) is an inherited renal disorder caused by homozygous and compound heterozygous mutations in COL4A3 or COL4A4, but the prognostic predictors for this disorder are not yet fully understood. ...Although heterozygous …
BACKGROUND: Autosomal recessive Alport syndrome (ARAS) is an inherited renal disorder caused by homozygous and compound heterozygous mutatio …
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.
Longo I, Porcedda P, Mari F, Giachino D, Meloni I, Deplano C, Brusco A, Bosio M, Massella L, Lavoratti G, Roccatello D, Frascá G, Mazzucco G, Muda AO, Conti M, Fasciolo F, Arrondel C, Heidet L, Renieri A, De Marchi M. Longo I, et al. Kidney Int. 2002 Jun;61(6):1947-56. doi: 10.1046/j.1523-1755.2002.00379.x. Kidney Int. 2002. PMID: 12028435 Free article.
The mutations of heterozygous patients are likely dominant, since no change was identified in the second allele even by sequencing, and they are predicted to result in shortened or abnormal chains with a possible dominant-negative effect. ...
The mutations of heterozygous patients are likely dominant, since no change was identified in the second allele even by sequencing, and they …
Familial hematuria; clinico-pathological correlations.
Yoshikawa N, White RH, Cameron AH. Yoshikawa N, et al. Clin Nephrol. 1982 Apr;17(4):172-82. Clin Nephrol. 1982. PMID: 7042145
Where there was either neurosensory deafness of heavy proteinuria in the patient or family, or a history of chronic renal failure in the family, the patient generally ran a progressive clinical course. Light microscopy (LM) of renal biopsy specimens revealed little abnorma …
Where there was either neurosensory deafness of heavy proteinuria in the patient or family, or a history of chronic renal failure in the fam …
Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.
Papazachariou L, Papagregoriou G, Hadjipanagi D, Demosthenous P, Voskarides K, Koutsofti C, Stylianou K, Ioannou P, Xydakis D, Tzanakis I, Papadaki A, Kallivretakis N, Nikolakakis N, Perysinaki G, Gale DP, Diamantopoulos A, Goudas P, Goumenos D, Soloukides A, Boletis I, Melexopoulou C, Georgaki E, Frysira E, Komianou F, Grekas D, Paliouras C, Alivanis P, Vergoulas G, Pierides A, Daphnis E, Deltas C. Papazachariou L, et al. Clin Genet. 2017 Nov;92(5):517-527. doi: 10.1111/cge.13077. Epub 2017 Sep 25. Clin Genet. 2017. PMID: 28632965
Familial microscopic hematuria (FMH) is associated with a genetically heterogeneous group of conditions including the collagen-IV nephropathies, the heritable C3/CFHR5 nephropathy and the glomerulopathy with fibronectin deposits. The clinical course varies widely, ranging …
Familial microscopic hematuria (FMH) is associated with a genetically heterogeneous group of conditions including the collagen-IV nephropath …
13 results