PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
about
Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli diseaseThe ciliary protein cystin forms a regulatory complex with necdin to modulate Myc expressionCorrelation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effectsCharacteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease.Polycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment.Transcriptional complexity in autosomal recessive polycystic kidney disease.Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease.Congenital hepatic fibrosis in autosomal recessive polycystic kidney disease.Intragenic duplication in the PKHD1 gene in autosomal recessive polycystic kidney disease.Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.Rare benign tumors of the liver: still rare?Caroli's Disease: Current Knowledge of Its Biliary Pathogenesis Obtained from an Orthologous Rat Model.Tesevatinib ameliorates progression of polycystic kidney disease in rodent models of autosomal recessive polycystic kidney disease.The case for a parental duty to use preimplantation genetic diagnosis for medical benefit.Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomicsGenomic medicine for kidney disease.Recent advances in the molecular diagnosis of polycystic kidney disease.Challenges in establishing genotype-phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations.A novel model of autosomal recessive polycystic kidney questions the role of the fibrocystin C-terminus in disease mechanism.Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses.Genetic analysis of the PKHD1 gene with long-rang PCR sequencing.Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease
P2860
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P2860
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
description
2009 nî lūn-bûn
@nan
2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
PKHD1 sequence variations in 7 ...... d congenital hepatic fibrosis.
@ast
PKHD1 sequence variations in 7 ...... d congenital hepatic fibrosis.
@en
type
label
PKHD1 sequence variations in 7 ...... d congenital hepatic fibrosis.
@ast
PKHD1 sequence variations in 7 ...... d congenital hepatic fibrosis.
@en
prefLabel
PKHD1 sequence variations in 7 ...... d congenital hepatic fibrosis.
@ast
PKHD1 sequence variations in 7 ...... d congenital hepatic fibrosis.
@en
P2093
P2860
P1476
PKHD1 sequence variations in 7 ...... d congenital hepatic fibrosis.
@en
P2093
Angelica Garcia
Esperanza Font-Montgomery
Hailey Edwards
Isa Bernardini
Joy Bryant
Katie Piwnica-Worms
Linda Lukose
Lisa Guay-Woodford
Marjan Huizing
Maya Tuchman
P2860
P304
P356
10.1016/J.YMGME.2009.10.010
P577
2009-10-20T00:00:00Z