Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)
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ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopiesEvidence for a "Pathogenic Triumvirate" in Congenital Hepatic Fibrosis in Autosomal Recessive Polycystic Kidney DiseaseWhole 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 expressionFunctional alterations due to amino acid changes and evolutionary comparative analysis of ARPKD and ADPKD genesPolyductin undergoes notch-like processing and regulated release from primary ciliaKidney and liver transplantation in children with fibrocystic liver-kidney disease: data from the US Scientific Registry of Transplant Recipients: 1990-2010.Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.Design and Implementation of the Hepatorenal Fibrocystic Disease Core Center Clinical Database: A Centralized Resource for Characterizing Autosomal Recessive Polycystic Kidney Disease and Other Hepatorenal Fibrocystic DiseasesPKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.Risk Factors for Neurocognitive Functioning in Children with Autosomal Recessive Polycystic Kidney Disease.Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease.Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conferenceAutosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effectsPolycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment.Neurocognition in children with autosomal recessive polycystic kidney disease in the CKiD cohort studyTranscriptional complexity in autosomal recessive polycystic kidney disease.Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference.Galectin-3 associates with the primary cilium and modulates cyst growth in congenital polycystic kidney diseaseGermline PKHD1 mutations are protective against colorectal cancer.Rationale, design and objectives of ARegPKD, a European ARPKD registry studyGenetic and Informatic Analyses Implicate Kif12 as a Candidate Gene within the Mpkd2 Locus That Modulates Renal Cystic Disease Severity in the Cys1cpk MouseMolecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.Educational paper: ciliopathies.Cystic kidney diseases: many ways to form a cyst.Diagnosis, pathogenesis, and treatment prospects in cystic kidney disease.Molecular and cellular pathogenesis of autosomal recessive polycystic kidney disease.Polycystic kidney diseases: from molecular discoveries to targeted therapeutic strategiesPresence of de novo mutations in autosomal dominant polycystic kidney disease patients without family historyRole of genetic modifiers in an orthologous rat model of ARPKD.Diagnosis and management of childhood polycystic kidney disease.Fetal genitourinary imaging.Looking at the (w)hole: magnet resonance imaging in polycystic kidney disease.Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes.Hereditary polycystic kidney disease: genetic diagnosis and counseling.Recent Progress of the ARegPKD Registry Study on Autosomal Recessive Polycystic Kidney Disease.Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.The case for a parental duty to use preimplantation genetic diagnosis for medical benefit.Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.
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Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)
description
im März 2005 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в березні 2005
@uk
name
Clinical consequences of PKHD1 ...... ycystic kidney disease (ARPKD)
@en
Clinical consequences of PKHD1 ...... sive polycystic kidney disease
@nl
type
label
Clinical consequences of PKHD1 ...... ycystic kidney disease (ARPKD)
@en
Clinical consequences of PKHD1 ...... sive polycystic kidney disease
@nl
prefLabel
Clinical consequences of PKHD1 ...... ycystic kidney disease (ARPKD)
@en
Clinical consequences of PKHD1 ...... sive polycystic kidney disease
@nl
P2093
P1433
P1476
Clinical consequences of PKHD1 ...... ycystic kidney disease (ARPKD)
@en
P2093
Carsten Bergmann
Christian Dornia
Claus P. Schmitt
Ellen Windelen
Fabian Küpper
Frank Schneider
Iris Middeldorf
Jutta Kirfel
Klaus Zerres
Martin Konrad
P304
P356
10.1111/J.1523-1755.2005.00148.X
P407
P50
P577
2005-03-01T00:00:00Z
P6179
1011190105