(Q35755781)

10 August 2017

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title

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

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autosomal recessive polycystic kidney

10 August 2017

main subject

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Luiz F Onuchic

11

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Gregory Germino

object named as

Gregory G Germino

16

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Jan Senderek

object named as

Jan Senderek

2

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author name string

Carsten Bergmann

1

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10 August 2017

Fabian Küpper

3

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10 August 2017

Frank Schneider

4

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10 August 2017

Christian Dornia

5

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10 August 2017

Ellen Windelen

6

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10 August 2017

Thomas Eggermann

7

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10 August 2017

Sabine Rudnik-Schöneborn

8

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10 August 2017

Jutta Kirfel

9

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10 August 2017

Laszlo Furu

10

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10 August 2017

Sandro Rossetti

12

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10 August 2017

Peter C Harris

13

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10 August 2017

Stefan Somlo

14

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10 August 2017

Lisa Guay-Woodford

15

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10 August 2017

Markus Moser

17

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10 August 2017

Reinhard Büttner

18

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10 August 2017

Klaus Zerres

19

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10 August 2017

publication date

1 May 2004

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10 August 2017

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10 August 2017

volume

23

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10 August 2017

issue

5

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10 August 2017

page(s)

453-463

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Phenotypic variations of orpk mutation and chromosomal localization of modifiers influencing kidney phenotype

10 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

Analysis of chromosome 6p in Spanish families with recessive polycystic kidney disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

Disease-causing mutations in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

DHPLC mutation analysis of phenylketonuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

Alternative splicing: multiple control mechanisms and involvement in human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

Maintenance of an open reading frame as an additional level of scrutiny during splice site selection

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

Autosomal recessive polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

Intracranial aneurysms in a child with autosomal recessive polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

Defects in cholangiocyte fibrocystin expression and ciliary structure in the PCK rat.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

Neurexins: three genes and 1001 products

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

A genomic view of alternative splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

Alternative splicing in the human, mouse and rat genomes is associated with an increased frequency of exon creation and/or loss

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

Multiple intracranial aneurysms in a patient with autosomal recessive polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

Splicing regulation as a potential genetic modifier

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

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

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

A complete mutation screen of the ADPKD genes by DHPLC

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.20029

1 reference

7 January 2021

Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

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.20029

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.20029

7 January 2021

Autosomal recessive polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20029

7 January 2021

Identifiers

DOI

10.1002/HUMU.20029

1 reference

10 August 2017

1 reference