(Q28478185)

4

0 references

Fan Liu

Fan Liu

1

0 references

Yurii S. Aulchenko

Yurii S Aulchenko

7

0 references

Cornelia M. van Duijn

6

Cornelia van Duijn

0 references

Manfred Kayser

8

Manfred Kayser

0 references

Kate van Duijn

3

Kate van Duijn

0 references

Maksim Struchalin

2

Creative Commons Attribution 4.0 International

Maksim V Struchalin

0 references

language of work or name

English

0 references

publication date

2011

0 references

published in

PLOS One

0 references

volume

6

0 references

issue

11

0 references

page(s)

e28145

0 references

copyright license

start time

29 November 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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19 March 2017

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A flexible and accurate genotype imputation method for the next generation of genome-wide association studies

19 March 2017

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Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia

19 March 2017

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Genetic determinants of hair, eye and skin pigmentation in Europeans

19 March 2017

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Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity

19 March 2017

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Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

19 March 2017

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SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis

19 March 2017

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19 March 2017

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Molecular identification of a renal urate anion exchanger that regulates blood urate levels

19 March 2017

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A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

19 March 2017

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Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans

19 March 2017

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A new familial disorder characterized by hypokalemia and hypomagnesemia

19 March 2017

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19 March 2017

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Rare variants create synthetic genome-wide associations

7 April 2017

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7 April 2017

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Positive natural selection in the human lineage

7 April 2017

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Score tests for association between traits and haplotypes when linkage phase is ambiguous

7 April 2017

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Novel compound heterozygous mutations T2C and 1149insT in the KCNQ1 gene cause Jervell and Lange-Nielsen syndrome

7 April 2017

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29 September 2017

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Loss-of-function variants in the genomes of healthy humans

29 September 2017

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ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic conceptsa

29 September 2017

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Digital quantification of human eye color highlights genetic association of three new loci

29 September 2017

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Interpretation of association signals and identification of causal variants from genome-wide association studies

29 September 2017

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29 September 2017

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29 September 2017

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A groupwise association test for rare mutations using a weighted sum statistic

29 September 2017

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Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): compound heterozygous mutation in the claudin 16 (CLDN16) gene

29 September 2017

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29 September 2017

1 reference

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The Rotterdam Study: objectives and design update

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3226656

Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL.

29 September 2017

1 reference

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A Thr357 to Ser polymorphism in homozygous and compound heterozygous subjects causes absent or reduced P2X7 function and impairs ATP-induced mycobacterial killing by macrophages

29 September 2017

1 reference

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Cardiac sodium channel and inherited arrhythmia syndromes

29 September 2017

1 reference

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Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3226656

A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3226656

Sequencing of Lp-PLA2-encoding PLA2G7 gene in 2000 Europeans reveals several rare loss-of-function mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3226656

Determinants of disease and disability in the elderly: The Rotterdam elderly study

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3226656

Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H.

2 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028145

Red hair is the null phenotype of MC1R.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028145

A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: a cohort allelic sums test (CAST).

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028145

Genome-wide strategies for detecting multiple loci that influence complex diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028145

To what extent do scans of non-synonymous SNPs complement denser genome-wide association studies?

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028145

The novel compound heterozygous mutations, V434del and W666X, in WFS1 gene causing the Wolfram syndrome in a Chinese family

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22140526

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0028145

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2412705

ADS bibcode

2011PLoSO...628145L

0 references

OpenCitations bibliographic resource ID

2412705

1 reference