Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.
about
Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.Urinalysis in children and adolescentsImproving mutation screening in familial hematuric nephropathies through next generation sequencing.Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigreesPathogenesis of glomerular haematuria.Advances in Alport syndrome diagnosis using next-generation sequencingProtein-Trap Insertional Mutagenesis Uncovers New Genes Involved in Zebrafish Skin Development, Including a Neuregulin 2a-Based ErbB Signaling Pathway Required during Median Fin Fold MorphogenesisThe role of molecular genetics in diagnosing familial hematuria(s).A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family.Prognostic value of glomerular collagen IV immunofluorescence studies in male patients with X-linked Alport syndrome.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 glomerulosclerosisGenetic testing can resolve diagnostic confusion in Alport syndrome.How benign is hematuria? Using genetics to predict prognosis.Haematuria as a risk factor for chronic kidney disease progression in glomerular diseases: A review.Severe to profound hearing loss in patients with progressed Alport's syndrome.Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene.COL4A3 mutations cause focal segmental glomerulosclerosis.Natural history of genetically proven autosomal recessive Alport syndrome.
P2860
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P2860
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.
description
2005 nî lūn-bûn
@nan
2005 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
name
Autosomal recessive Alport syn ...... lar analysis of five families.
@ast
Autosomal recessive Alport syn ...... lar analysis of five families.
@en
Autosomal recessive Alport syn ...... lar analysis of five families.
@nl
type
label
Autosomal recessive Alport syn ...... lar analysis of five families.
@ast
Autosomal recessive Alport syn ...... lar analysis of five families.
@en
Autosomal recessive Alport syn ...... lar analysis of five families.
@nl
prefLabel
Autosomal recessive Alport syn ...... lar analysis of five families.
@ast
Autosomal recessive Alport syn ...... lar analysis of five families.
@en
Autosomal recessive Alport syn ...... lar analysis of five families.
@nl
P2093
P2860
P50
P356
P1476
Autosomal recessive Alport syn ...... ular analysis of five families
@en
P2093
Caterina Speciale
Chiara Pescucci
Domenica Angela Caringella
Elena Bresin
Elisa Scala
Ilaria Longo
Komudi Siriwardena
Maria Antonietta Mencarelli
Marisa Giani
Rossella Caselli
P2860
P304
P356
10.1093/NDT/GFI312
P407
P577
2005-12-07T00:00:00Z