Genotype-phenotype correlation in X-linked Alport syndrome
about
Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.X-linked Alport syndrome caused by splicing mutations in COL4A5Improving mutation screening in familial hematuric nephropathies through next generation sequencing.Novel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruptionThe role of molecular genetics in diagnosing familial hematuria(s).A novel splice site mutation in the COL4A5 gene in a Chinese female patient with rare ocular abnormalitiesClinical 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.Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndromeHANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease.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.Temporal macular thinning associated 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.Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing.Alport syndrome: facts and opinions.An update on the pathomechanisms and future therapies of Alport syndrome.Alport syndrome--insights from basic and clinical research.How benign is hematuria? Using genetics to predict prognosis.Molecular genetics of familial hematuric diseases.The collagenopathies: review of clinical phenotypes and molecular correlations.Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene.Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.Prospective study on the potential of RAAS blockade to halt renal disease in Alport syndrome patients with heterozygous mutations.The Variability of Estimated Glomerular Filtration Rate Decline in Alport Syndrome.X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene.Negative Staining for COL4A5 Correlates With Worse Prognosis and More Severe Ultrastructural Alterations in Males With Alport Syndrome.Natural History and Genotype-Phenotype Correlation in Female X-Linked Alport Syndrome.Genomic medicine for kidney disease.Genetic basis of adult-onset nephrotic syndrome and focal segmental glomerulosclerosis.Basement Membrane Defects in Genetic Kidney Diseases.Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families.Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.Alport syndrome: impact of digenic inheritance in patients management.Genotype and Outcome After Kidney Transplantation in Alport Syndrome.From Structure to Phenotype: Impact of Collagen Alterations on Human Health.Renal transplantation in patients with Alport syndrome: patient selection, outcomes, and donor evaluation
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Genotype-phenotype correlation in X-linked Alport syndrome
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
2010年论文
@zh
2010年论文
@zh-cn
name
Genotype-phenotype correlation in X-linked Alport syndrome
@en
type
label
Genotype-phenotype correlation in X-linked Alport syndrome
@en
prefLabel
Genotype-phenotype correlation in X-linked Alport syndrome
@en
P2093
P2860
P356
P1476
Genotype-phenotype correlation in X-linked Alport syndrome
@en
P2093
Alireza Abdollah Shamshirsaz
Amirali Masoumi
Berenice Reed
Kim McFann
Martin C Gregory
Mir Reza Bekheirnia
P2860
P304
P356
10.1681/ASN.2009070784
P577
2010-04-08T00:00:00Z