Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database
about
Genotype-phenotype correlations in non-Finnish congenital nephrotic syndromeInsight into podocyte differentiation from the study of human genetic disease: nail-patella syndrome and transcriptional regulation in podocytesA zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndromeGenetic testing in steroid-resistant nephrotic syndrome: when and how?Frasier and Denys-Drash syndromes: different disorders or part of a spectrum?A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis.Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review.Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy?Hemolytic uremic syndrome as the presenting manifestation of WT1 mutation and Denys-Drash syndrome: a case report.Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations.The glomerulus--a view from the outside--the podocyte.Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutationsImmunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.Exploring the genetic basis of early-onset chronic kidney disease.Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation.Risk factors for end stage renal disease in non-WT1-syndromic Wilms tumor.A high incidence of WT1 abnormality in bilateral Wilms tumours in Japan, and the penetrance rates in children with WT1 germline mutationWT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis.Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severityPhenotype/genotype correlations in the ultrastructure of monogenetic glomerular diseases.Early glomerular filtration defect and severe renal disease in podocin-deficient miceAtypical clinical presentation of a WT1-related syndrome associated with a novel exon 6 gene mutation.Molecular pathology of nephrotic syndrome in childhood: a contemporary approach to diagnosis.Two cases of isolated diffuse mesangial sclerosis with WT1 mutations.Gonadal Function in 15 Patients Associated with WT1 Gene Mutations.WT1 in disease: shifting the epithelial-mesenchymal balance.Educational paper: the podocytopathies.The renal biopsy in the genomic era.Genetics of steroid-resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing.Genetic testing for nephrotic syndrome and FSGS in the era of next-generation sequencing.Congenital nephrotic syndrome and recurrence of proteinuria after renal transplantation.Familial FSGS.The expanding phenotypic spectra of kidney diseases: insights from genetic studies.Recent findings on the genetics of disorders of sex development.Early B-cell factor 1 is an essential transcription factor for postnatal glomerular maturationDealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing.Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9.
P2860
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P2860
Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database
description
1998 nî lūn-bûn
@nan
1998 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Identification of constitution ...... computerized mutation database
@ast
Identification of constitution ...... computerized mutation database
@en
Identification of constitution ...... computerized mutation database
@nl
type
label
Identification of constitution ...... computerized mutation database
@ast
Identification of constitution ...... computerized mutation database
@en
Identification of constitution ...... computerized mutation database
@nl
prefLabel
Identification of constitution ...... computerized mutation database
@ast
Identification of constitution ...... computerized mutation database
@en
Identification of constitution ...... computerized mutation database
@nl
P2093
P2860
P356
P1476
Identification of constitution ...... computerized mutation database
@en
P2093
Cabanis MO
Jeanpierre C
P2860
P304
P356
10.1086/301806
P407
P577
1998-04-01T00:00:00Z