Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Jan 2005

Consugar Mark B, Anderson Sarah A, Rossetti Sandro, Pankratz V Shane, Ward Christopher J, Torra Roser, Coto Eliecer, El-Youssef Monif, Kantarci Sibel, Utsch Boris, Hildebrandt Friedhelm, Sweeney William E, Avner Ellis D, Torres Vicente E, Cunningham Julie M, Harris Peter C

Abstract excerpt

BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) is characterized by wide phenotypic variability, ranging from in utero detection with enlarged, echogenic kidneys to an adult presentation with congenital hepatic fibrosis. The ARPKD gene, PKHD1 , covers about 470 kb of DNA (67 exons), and mutation studies have found marked allelic heterogeneity with a high level of novel missense changes and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to 3' Flanking Region
Share to 5' Flanking Region

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cohort Studies

Share to DNA, Intergenic

Share to Microsatellite Repeats

Share to Molecular Diagnostic Techniques

Share to Polycystic Kidney, Autosomal Recessive

Share to Receptors, Cell Surface

Source

Identifiers

PMID: 15696446
DOI: 10.1053/j.ajkd.2004.09.009

Genes

PKHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease.PMID 15696446Read ↗

Novel compound heterozygous PKHD1 mutations cause autosomal recessive polycystic kidney disease in a Han Chinese family.Semantic proximity Read ↗

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.Semantic proximity Read ↗

PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).Semantic proximity Read ↗

Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).Semantic proximity Read ↗

Molecular diagnostics for autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

Intragenic duplication in the PKHD1 gene in autosomal recessive polycystic kidney disease.Semantic proximity Read ↗

Distribution and classifications of PKHD1 gene variants in a Turkish population using the next generation sequencing method.Semantic proximity Read ↗

Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease.Semantic proximity Read ↗

Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphologySemantic proximity Read ↗

A novel mutation identified in PKHD1 by targeted exome sequencing: guiding prenatal diagnosis for an ARPKD family.Semantic proximity Read ↗

An Ashkenazi founder mutation in the PKHD1 gene.Semantic proximity Read ↗

Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.