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Page 1
Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J, Garosi G, Storey H. Savige J, et al. Pediatr Nephrol. 2019 Jul;34(7):1175-1189. doi: 10.1007/s00467-018-3985-4. Epub 2018 Jul 9. Pediatr Nephrol. 2019. PMID: 29987460 Free article. Review.
Genes in which mutations produce similar clinical features to Alport syndrome (resulting in focal and segmental glomerulosclerosis, complement pathway disorders, MYH9-related disorders, etc.) should be examined. ...
Genes in which mutations produce similar clinical features to Alport syndrome (resulting in focal and segmental glomerulosc …
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Savige J, Storey H, Watson E, Hertz JM, Deltas C, Renieri A, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Lipska-Ziętkiewicz BS. Savige J, et al. Eur J Hum Genet. 2021 Aug;29(8):1186-1197. doi: 10.1038/s41431-021-00858-1. Epub 2021 Apr 15. Eur J Hum Genet. 2021. PMID: 33854215 Free PMC article.
The recent Chandos House meeting of the Alport Variant Collaborative extended the indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 genes beyond the classical Alport phenotype (haematuria, renal failure; family history of haematuria or renal failu …
The recent Chandos House meeting of the Alport Variant Collaborative extended the indications for screening for pathogenic variants in the C …
Cystinosis: practical tools for diagnosis and treatment.
Wilmer MJ, Schoeber JP, van den Heuvel LP, Levtchenko EN. Wilmer MJ, et al. Pediatr Nephrol. 2011 Feb;26(2):205-15. doi: 10.1007/s00467-010-1627-6. Epub 2010 Aug 24. Pediatr Nephrol. 2011. PMID: 20734088 Free PMC article. Review.
Cystinosis is the major cause of inherited Fanconi syndrome, and should be suspected in young children with failure to thrive and signs of renal proximal tubular damage. ...In older patients cystinosis can mimic idiopathic nephrotic syndrome due to focal and segm …
Cystinosis is the major cause of inherited Fanconi syndrome, and should be suspected in young children with failure to thrive and sig …
Application of next-generation sequencing technology to diagnosis and treatment of focal segmental glomerulosclerosis.
Harita Y. Harita Y. Clin Exp Nephrol. 2018 Jun;22(3):491-500. doi: 10.1007/s10157-017-1449-y. Epub 2017 Jul 27. Clin Exp Nephrol. 2018. PMID: 28752288 Free PMC article. Review.
A broad range of genetic and non-genetic factors can lead to kidney injury that manifests as focal segmental glomerulosclerosis (FSGS), which can be classified into primary (idiopathic) and secondary forms. ...Current knowledge of the comprehensive genomic in …
A broad range of genetic and non-genetic factors can lead to kidney injury that manifests as focal segmental glomeruloscler …
Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling.
Rood IM, Deegens JKJ, Lugtenberg D, Bongers EMHF, Wetzels JFM. Rood IM, et al. Am J Kidney Dis. 2019 Mar;73(3):400-403. doi: 10.1053/j.ajkd.2018.06.034. Epub 2018 Sep 18. Am J Kidney Dis. 2019. PMID: 30241959
Mutations in the NPHS2 gene, which encodes the podocyte slit diaphragm protein podocin, cause autosomal recessive steroid-resistant nephrotic syndrome (Online Mendelian Inheritance in Man [OMIM] #600995). Basic research and clinical studies have provided important insights …
Mutations in the NPHS2 gene, which encodes the podocyte slit diaphragm protein podocin, cause autosomal recessive steroid-resistant nephroti …
Genetic mutational testing of Chinese children with familial hematuria with biopsy-proven FSGS.
Li Y, Wang Y, He Q, Dang X, Cao Y, Wu X, Mo S, He X, Yi Z. Li Y, et al. Mol Med Rep. 2018 Jan;17(1):1513-1526. doi: 10.3892/mmr.2017.8023. Epub 2017 Nov 10. Mol Med Rep. 2018. PMID: 29138824 Free PMC article.
Focal segmental glomerulosclerosis (FSGS) is a pathological lesion rather than a disease, with a diverse etiology. ...Renal biopsies were unhelpful and failed to demonstrate glomerular or basement membrane defects consistent with an inherited glomerulo …
Focal segmental glomerulosclerosis (FSGS) is a pathological lesion rather than a disease, with a diverse etiology. ...R …
Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant.
Gibson J, Gilbert RD, Bunyan DJ, Angus EM, Fowler DJ, Ennis S. Gibson J, et al. Genet Res (Camb). 2013 Dec;95(6):165-73. doi: 10.1017/S0016672313000220. Epub 2014 Jan 28. Genet Res (Camb). 2013. PMID: 24472419
Following kidney biopsy in the father and paternal grandmother, the pathological diagnosis was of focal segmental glomerulosclerosis (FSGS). Exome sequencing was undertaken in the proband's sister and grandmother. ...A mutation of COL4A5 known to cause Alport …
Following kidney biopsy in the father and paternal grandmother, the pathological diagnosis was of focal segmental glomerulo …
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.
Koziell A, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvason K, Scambler P. Koziell A, et al. Hum Mol Genet. 2002 Feb 15;11(4):379-88. doi: 10.1093/hmg/11.4.379. Hum Mol Genet. 2002. PMID: 11854170
Mutations of the novel renal glomerular genes NPHS1 and NPHS2 encoding nephrin and podocin cause two types of severe nephrotic syndrome presenting in early life, Finnish type congenital nephrotic syndrome (CNF) and a form of autosomal recessive familial focal segmental …
Mutations of the novel renal glomerular genes NPHS1 and NPHS2 encoding nephrin and podocin cause two types of severe nephrotic syndrome pres …