COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.
about
Stage-specific action of matrix metalloproteinases influences progressive hereditary kidney disease.A novel mutation of COL4A3 presents a different contribution to Alport syndrome and thin basement membrane nephropathyMammalian collagen IVCommon variants in the COL4A4 gene confer susceptibility to lattice degeneration of the retina.Canine COL4A3 and COL4A4: sequencing, mapping and genomic organization.Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconusNovel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysisIdentification of the NC1 domain of {alpha}3 chain as critical for {alpha}3{alpha}4{alpha}5 type IV collagen network assembly.Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney diseaseImproving mutation screening in familial hematuric nephropathies through next generation sequencing.Pathology vs. molecular genetics: (re)defining the spectrum of Alport syndrome.COL4A4 gene study of a European population: description of new mutations causing autosomal dominant Alport syndrome.Advances in Alport syndrome diagnosis using next-generation sequencingA Novel Mutation in a Kazakh Family with X-Linked Alport SyndromeEfficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related DisordersPhenotype/genotype correlations in the ultrastructure of monogenetic glomerular diseases.The role of molecular genetics in diagnosing familial hematuria(s).X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype CorrelationsChallenge in pathologic diagnosis of Alport syndrome: evidence from correction of previous misdiagnosis.Mechanisms of disease: Alloimmunization in renal diseases.A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family.Molecular regulation of kidney development.COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosisAlport syndrome: facts and opinions.Molecular genetics of familial hematuric diseases.The collagenopathies: review of clinical phenotypes and molecular correlations.Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family.Attitudes toward genetic diagnosis and prenatal diagnosis of X-linked Alport syndrome in China.Co-existence of thin basement membrane nephropathy with other glomerular pathologies; a single center experience.A Case of Alport Syndrome with Posttransplant Antiglomerular Basement Membrane Disease despite Negative Antiglomerular Basement Membrane Antibodies by EIA Treated with Plasmapheresis and Intravenous Immunoglobulin.Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene.Identification and characterization of a defective CYP3A4 genotype in a kidney transplant patient with severely diminished tacrolimus clearance.A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population.Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.End-stage kidney disease due to Alport syndrome: outcomes in 296 consecutive Australia and New Zealand Dialysis and Transplant Registry cases.Natural history of genetically proven autosomal recessive Alport syndrome.Evidence of digenic inheritance in Alport syndrome.
P2860
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P2860
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
2002年论文
@zh
2002年论文
@zh-cn
name
COL4A3/COL4A4 mutations: from ...... or recessive Alport syndrome.
@en
COL4A3/COL4A4 mutations: from ...... or recessive Alport syndrome.
@nl
type
label
COL4A3/COL4A4 mutations: from ...... or recessive Alport syndrome.
@en
COL4A3/COL4A4 mutations: from ...... or recessive Alport syndrome.
@nl
prefLabel
COL4A3/COL4A4 mutations: from ...... or recessive Alport syndrome.
@en
COL4A3/COL4A4 mutations: from ...... or recessive Alport syndrome.
@nl
P2093
P50
P1433
P1476
COL4A3/COL4A4 mutations: from ...... or recessive Alport syndrome.
@en
P2093
Carla Deplano
Dario Roccatello
Federica Fasciolo
Giancarlo Lavoratti
Gianna Mazzucco
Giovanni Frascá
Ilaria Longo
Laura Massella
Mario De Marchi
Maura Conti
P304
P356
10.1046/J.1523-1755.2002.00379.X
P407
P50
P577
2002-06-01T00:00:00Z
P5875
P6179
1010747042