PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (Q33638109)

28 July 2017

title

PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (English)

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autosomal recessive polycystic kidney

28 July 2017

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Congenital hepatic fibrosis

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Meral Gunay-Aygun

1

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28 July 2017

Maya Tuchman

2

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Esperanza Font-Montgomery

3

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Linda Lukose

4

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Hailey Edwards

5

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Angelica Garcia

6

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Surasawadee Ausavarat

7

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Shira G Ziegler

8

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Katie Piwnica-Worms

9

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Joy Bryant

10

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Isa Bernardini

11

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Roxanne Fischer

12

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Marjan Huizing

13

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Lisa Guay-Woodford

14

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William A Gahl

15

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publication date

20 October 2009

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Molecular Genetics and Metabolism

28 July 2017

published in

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28 July 2017

volume

99

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28 July 2017

issue

2

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28 July 2017

page(s)

160-173

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SNAP predicts effect of mutations on protein function

28 July 2017

cites work

1 reference

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SNAP: predict effect of non-synonymous polymorphisms on function

28 July 2018

1 reference

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

28 July 2018

1 reference

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Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818513

Predicting the effects of amino acid substitutions on protein function

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818513

Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818513

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818513

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

28 July 2018

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818513

Human non-synonymous SNPs: server and survey

28 July 2018

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Molecular basis of polycystic kidney disease: PKD1, PKD2 and PKHD1.

28 July 2018

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818513

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

28 July 2018

1 reference

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Prediction of deleterious human alleles

28 July 2018

1 reference

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Towards a structural basis of human non-synonymous single nucleotide polymorphisms

28 July 2018

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818513

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

30 October 2018

1 reference

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Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818513

New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818513

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818513

Caroli's disease: prenatal diagnosis, postnatal outcome and genetic analysis

30 October 2018

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

30 October 2018

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Understanding human disease mutations through the use of interspecific genetic variation

30 October 2018

1 reference

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818513

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818513

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

30 October 2018

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2009.10.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2009.10.010

Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis

7 January 2021

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Allelic discrimination using fluorogenic probes and the 5' nuclease assay

7 January 2021

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SNP frequencies in human genes

7 January 2021

1 reference

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Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation

7 January 2021

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10.1016/J.YMGME.2009.10.010

7 January 2021

Identifiers

DOI

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28 July 2017

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28 July 2017

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