Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease (Q59619315)

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12 February 2020

title

Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease (English)

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autosomal recessive polycystic kidney

12 February 2020

main subject

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1 reference

5

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12 February 2020

Jacques Elion

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Erick Denamur

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12 February 2020

author name string

Anne-Lise Delezoide

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Corinne Alberti

3

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Agnès Bourillon

4

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Raymonde Bouvier

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Olivier Pascaud

7

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Bernard Grandchamp

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Laurence Michel-Calemard

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Pascale Missy

11

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Isabelle Zaccaria

12

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Hervé Le Nagard

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Bénédicte Gerard

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Chantal Loirat

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Société Française de Foetopathologie

16

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J Barbet

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A M Beaufrère

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C Berchel

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S Boudjemaa

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A Buenerd

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D Carles

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A Clemenson

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F Dijoud

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B Jacob

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M Joubert

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A Lallemand

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N Laurent

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F Ménez

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J J Roux

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C Rouleau-Dubois

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M Sinico

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A R Wann

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language of work or name

English

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publication date

25 November 2009

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12 February 2020

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12 February 2020

volume

77

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page(s)

350-358

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issue

4

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https://scigraph.springernature.com/pub.10.1038/ki.2009.440

12 February 2020

exact match

0 references

cites work

Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology

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Autosomal Recessive Polycystic Kidney Disease: The Clinical Experience in North America

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Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender. Arbeitsgemeinschaft für Pädiatrische, Nephrologie

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Autosomal recessive polycystic kidney disease: long-term outcome of neonatal survivors

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Autosomal recessive polycystic kidney disease: outcomes from a single-center experience.

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Liver disease in autosomal recessive polycystic kidney disease

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PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats

1 reference

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7 January 2021

The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein

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Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia.

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Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

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7 January 2021

The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area

1 reference

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7 January 2021

PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells

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7 January 2021

Polycystic kidney disease

1 reference

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7 January 2021

Mechanisms of Disease: autosomal dominant and recessive polycystic kidney diseases

1 reference

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7 January 2021

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)

1 reference

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7 January 2021

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

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7 January 2021

Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).

1 reference

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7 January 2021

Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).

1 reference

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7 January 2021

Milder Presentation of Recessive Polycystic Kidney Disease Requires Presence of Amino Acid Substitution Mutations

1 reference

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7 January 2021

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

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7 January 2021

Congenital murine polycystic kidney disease. I. The ontogeny of tubular cyst formation

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7 January 2021

Renal and biliary abnormalities in a new murine model of autosomal recessive polycystic kidney disease

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7 January 2021

Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice.

1 reference

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7 January 2021

A mouse model of autosomal recessive polycystic kidney disease with biliary duct and proximal tubule dilatation.

1 reference

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7 January 2021

Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene.

1 reference

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7 January 2021

Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease

1 reference

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7 January 2021

Role of the hepatocyte nuclear factor-1beta (HNF-1beta) C-terminal domain in Pkhd1 (ARPKD) gene transcription and renal cystogenesis

1 reference

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7 January 2021

Kinesin Family Member 12 Is a Candidate Polycystic Kidney Disease Modifier in the cpk Mouse

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function

1 reference

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7 January 2021

Polycystin-2 expression is regulated by a PC2-binding domain in the intracellular portion of fibrocystin

1 reference

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7 January 2021

Renal cysts in pediatric patients. A classification and overview

1 reference

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7 January 2021

Identifiers

DOI

10.1038/KI.2009.440

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19940839%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference