(Q33638109)

28 July 2017

title

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

1 reference

autosomal recessive polycystic kidney

28 July 2017

0 references

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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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28 July 2017

Esperanza Font-Montgomery

3

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28 July 2017

Linda Lukose

4

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28 July 2017

Hailey Edwards

5

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28 July 2017

Angelica Garcia

6

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28 July 2017

Surasawadee Ausavarat

7

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28 July 2017

Shira G Ziegler

8

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28 July 2017

Katie Piwnica-Worms

9

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28 July 2017

Joy Bryant

10

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28 July 2017

Isa Bernardini

11

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28 July 2017

Roxanne Fischer

12

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28 July 2017

Marjan Huizing

13

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28 July 2017

Lisa Guay-Woodford

14

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28 July 2017

William A Gahl

15

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28 July 2017

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

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

SNAP: predict effect of non-synonymous polymorphisms on 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

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

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

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

1 reference

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

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

1 reference

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

Molecular basis of polycystic kidney disease: PKD1, PKD2 and 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

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

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

Prediction of deleterious human alleles

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

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

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

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

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

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

1 reference

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

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

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

Understanding human disease mutations through the use of interspecific genetic variation

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

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%2FJ.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%2FJ.YMGME.2009.10.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.010

Allelic discrimination using fluorogenic probes and the 5' nuclease assay

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.010

SNP frequencies in human genes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.010

10.1016/J.YMGME.2009.10.010

7 January 2021

Identifiers

DOI

1 reference

28 July 2017

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28 July 2017

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