Rare complement factor H variant associated with age-related macular degeneration in the Amish (Q33936946)

30 July 2017

title

Rare complement factor H variant associated with age-related macular degeneration in the Amish (English)

1 reference

Margaret A. Pericak-Vance

30 July 2017

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1 reference

15

object named as

Margaret A Pericak-Vance

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Jessica N Cooke Bailey

object named as

Jessica N Cooke Bailey

2

0 references

Jonathan L Haines

16

object named as

Jonathan L Haines

1 reference

30 July 2017

Joshua D Hoffman

1

1 reference

30 July 2017

Laura D'Aoust

3

1 reference

30 July 2017

William Cade

4

1 reference

30 July 2017

Juan Ayala-Haedo

5

1 reference

30 July 2017

Denise Fuzzell

6

1 reference

30 July 2017

Renee Laux

7

1 reference

30 July 2017

Larry D Adams

8

1 reference

30 July 2017

Lori Reinhart-Mercer

9

1 reference

30 July 2017

Laura Caywood

10

1 reference

30 July 2017

Patrice Whitehead-Gay

11

1 reference

30 July 2017

Anita Agarwal

12

1 reference

30 July 2017

Gaofeng Wang

13

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30 July 2017

William K Scott

14

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30 July 2017

language of work or name

English

0 references

publication date

6 June 2014

1 reference

Investigative Ophthalmology Visual Science

30 July 2017

published in

1 reference

30 July 2017

volume

55

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30 July 2017

issue

7

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30 July 2017

page(s)

4455-4460

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Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

30 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=4107619

Seven new loci associated with age-related macular degeneration

5 July 2018

1 reference

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Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107619

A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.

5 July 2018

1 reference

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

5 July 2018

1 reference

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Prevalence of age-related macular degeneration in the US population

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107619

PedHunter 2.0 and its usage to characterize the founder structure of the Old Order Amish of Lancaster County

5 July 2018

1 reference

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5 July 2018

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5 July 2018

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5 July 2018

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Case-control association testing with related individuals: a more powerful quasi-likelihood score test

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107619

Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107619

Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107619

Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107619

A genome-wide linkage analysis of dementia in the Amish

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107619

Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107619

Susceptibility genes for age-related maculopathy on chromosome 10q26

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107619

Complement factor H variant increases the risk of age-related macular degeneration

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107619

Prevalence of age-related macular degeneration in the United States

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107619

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107619

Anabaptist genealogy database

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107619

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107619

Body mass index and the incidence of visually significant age-related maculopathy in men

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107619

Towards a complete North American Anabaptist Genealogy II: analysis of inbreeding

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107619

Prevalence of age-related maculopathy in Australia. The Blue Mountains Eye Study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107619

Identification of three physically and functionally distinct binding sites for C3b in human complement factor H by deletion mutagenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107619

An approach for cutting large and complex pedigrees for linkage analysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107619

Linkage analysis for age-related macular degeneration supports a gene on chromosome 10q26.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107619

Risk factors for age-related macular degeneration: Pooled findings from three continents.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107619

Molecular mechanisms of target recognition in an innate immune system: interactions among factor H, C3b, and target in the alternative pathway of human complement

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107619

Familial aggregation of age-related maculopathy.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107619

A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107619

Association of the apolipoprotein E gene with age-related macular degeneration: possible effect modification by family history, age, and gender

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24906858

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Towards a complete North American Anabaptist genealogy: A systematic approach to merging partially overlapping genealogy resources

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24906858

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Fifteen-Year Cumulative Incidence of Age-Related Macular Degeneration

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24906858

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1167/IOVS.13-13684

1 reference

30 July 2017

1 reference

30 July 2017

1 reference