(Q36719071)

15 August 2017

Basal laminar drusen caused by compound heterozygous variants in the CFH gene (English)

1 reference

15 August 2017

1 reference

1 reference

5

Sander B Nabuurs

1 reference

15 August 2017

1

Camiel J F Boon

1 reference

15 August 2017

B Jeroen Klevering

2

1 reference

15 August 2017

Carel B Hoyng

3

1 reference

15 August 2017

Marijke N Zonneveld-Vrieling

4

1 reference

15 August 2017

Ellen Blokland

6

1 reference

15 August 2017

Frans P M Cremers

7

1 reference

15 August 2017

Anneke I den Hollander

8

1 reference

15 August 2017

language of work or name

English

0 references

publication date

1 February 2008

1 reference

American Journal of Human Genetics

15 August 2017

1 reference

15 August 2017

82

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15 August 2017

516-523

1 reference

15 August 2017

2

1 reference

Y402H polymorphism of complement factor H affects binding affinity to C-reactive protein

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427272

An update on the genetics of age-related macular degeneration.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427272

Heterozygosity for a Mendelian disorder as a risk factor for complex disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427272

CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427272

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427272

Structure of complement factor H carboxyl-terminus reveals molecular basis of atypical haemolytic uremic syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427272

A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427272

Membranoproliferative glomerulonephritis type II (dense deposit disease): an update

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427272

Complement factor H polymorphism and age-related macular degeneration

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427272

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427272

Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427272

Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427272

Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427272

Drusen associated with aging and age-related macular degeneration contain proteins common to extracellular deposits associated with atherosclerosis, elastosis, amyloidosis, and dense deposit disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427272

Improved splice site detection in Genie

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427272

Complement factor H polymorphism p.Tyr402His and cuticular Drusen.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427272

Age-Related Macular Degeneration

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427272

Structure and composition of drusen associated with glomerulonephritis: implications for the role of complement activation in drusen biogenesis.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427272

Fifteen-Year Cumulative Incidence of Age-Related Macular Degeneration

5 September 2018

1 reference

12 December 2020

Complement factor H and hemicentin-1 in age-related macular degeneration and renal phenotypes

1 reference

12 December 2020

Location, substructure, and composition of basal laminar drusen compared with drusen associated with aging and age-related macular degeneration

1 reference

12 December 2020

Each of the three binding sites on complement factor H interacts with a distinct site on C3b

1 reference

12 December 2020

Adult vitelliform macular detachment occurring in patients with basal laminar drusen

1 reference

12 December 2020

Specific eye fundus lesions in type II membranoproliferative glomerulonephritis

1 reference

12 December 2020

10.1016/J.AJHG.2007.11.007

Identifiers

DOI

1 reference

15 August 2017

1 reference

15 August 2017

1 reference