(Q47701938)

4 February 2018

title

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

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4 February 2018

autosomal recessive polycystic kidney

main subject

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author

Jan Senderek

2

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4 February 2018

author name string

Carsten Bergmann

1

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4 February 2018

Frank Schneider

3

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4 February 2018

Christian Dornia

4

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4 February 2018

Fabian Küpper

5

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4 February 2018

Thomas Eggermann

6

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4 February 2018

Sabine Rudnik-Schöneborn

7

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4 February 2018

Jutta Kirfel

8

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4 February 2018

Markus Moser

9

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4 February 2018

Reinhard Büttner

10

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4 February 2018

Klaus Zerres

11

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4 February 2018

publication date

1 May 2004

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4 February 2018

published in

Human Mutation

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4 February 2018

volume

23

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4 February 2018

issue

5

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4 February 2018

page(s)

487-495

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4 February 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20019

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

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20019

Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20019

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20019

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20019

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20019

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20019

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20019

Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: a clinical comparison of 20 sibships.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20019

7 January 2021

Autosomal recessive polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20019

7 January 2021

Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20019

7 January 2021

Prenatal diagnosis by ultrasound in pregnancies at risk for autosomal recessive polycystic kidney disease

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https://api.crossref.org/works/10.1002%2FHUMU.20019

7 January 2021

A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees

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https://api.crossref.org/works/10.1002%2FHUMU.20019

7 January 2021

Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis

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https://api.crossref.org/works/10.1002%2FHUMU.20019

7 January 2021

Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20019

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20019

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20019

7 January 2021

Autosomal recessive polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20019

7 January 2021

Identifiers

DOI

10.1002/HUMU.20019

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4 February 2018

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4 February 2018