X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study
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Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport SyndromeOcular features in Alport syndrome: pathogenesis and clinical significanceMammalian collagen IVMolecular testing for adult type Alport syndromeAlport retinopathy results from "severe" COL4A5 mutations and predicts early renal failure.Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.Ventricular septal defect in a child with Alport syndrome: a case report.Retinal basement membrane abnormalities and the retinopathy of Alport syndromeX-inactivation modifies disease severity in female carriers of murine X-linked Alport syndromeUrinalysis in children and adolescentsOutcomes of male patients with Alport syndrome undergoing renal replacement therapy.Identification of the NC1 domain of {alpha}3 chain as critical for {alpha}3{alpha}4{alpha}5 type IV collagen network assembly.Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney diseaseRare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosisFamilial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigreesWomen and Alport syndrome.Advances in Alport syndrome diagnosis using next-generation sequencingNovel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruptionCoinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.Podocyte Depletion in Thin GBM and Alport Syndrome.The role of molecular genetics in diagnosing familial hematuria(s).X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype CorrelationsA novel splice site mutation in the COL4A5 gene in a Chinese female patient with rare ocular abnormalitiesA COL4A5 mutation with glomerular disease and signs of chronic thrombotic microangiopathy.Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative.Challenge in pathologic diagnosis of Alport syndrome: evidence from correction of previous misdiagnosis.Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine.Prognostic value of glomerular collagen IV immunofluorescence studies in male patients with X-linked Alport syndrome.Familial hematuriaPhenotypic heterogeneity in females with X-linked Alport syndrome.Temporal macular thinning associated with X-linked Alport syndrome.COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.The variable course of women with X-linked Alport Syndrome.A Novel Mutation in a Japanese Family with X-linked Alport Syndrome.X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure.Alport syndrome: facts and opinions.Cellular resolution maps of X chromosome inactivation: implications for neural development, function, and disease.Genetic testing can resolve diagnostic confusion in Alport syndrome.The gene or not the gene--that is the question: understanding the genetically engineered mouse phenotype.Alport syndrome--insights from basic and clinical research.
P2860
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P2860
X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study
description
2003 nî lūn-bûn
@nan
2003 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
X-linked Alport syndrome: natu ...... ndrome Concerted Action" study
@ast
X-linked Alport syndrome: natu ...... ndrome Concerted Action" study
@en
X-linked Alport syndrome: natu ...... ndrome Concerted Action" study
@nl
type
label
X-linked Alport syndrome: natu ...... ndrome Concerted Action" study
@ast
X-linked Alport syndrome: natu ...... ndrome Concerted Action" study
@en
X-linked Alport syndrome: natu ...... ndrome Concerted Action" study
@nl
prefLabel
X-linked Alport syndrome: natu ...... ndrome Concerted Action" study
@ast
X-linked Alport syndrome: natu ...... ndrome Concerted Action" study
@en
X-linked Alport syndrome: natu ...... ndrome Concerted Action" study
@nl
P2093
P50
P3181
P1476
X-linked Alport syndrome: natu ...... ndrome Concerted Action" study
@en
P2093
Alessandra Renieri
Bertrand Knebelmann
Cornelis Schröder
Frances Flinter
Gianfranco Rizzoni
Hubert Smeets
Iannis Giatras
Jean Philippe Jais
Jörgen Wieslander
P304
P3181
P356
10.1097/01.ASN.0000090034.71205.74
P407
P577
2003-10-01T00:00:00Z