Genetic isolates in ophthalmic diseases (Q37324407)

19 August 2017

1 reference

title

Genetic isolates in ophthalmic diseases (English)

1 reference

19 August 2017

David A Mackey

4

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Alex W. Hewitt

series ordinal

2

object named as

Alex W Hewitt

1 reference

19 August 2017

Justin C Sherwin

1

1 reference

19 August 2017

Jonathan B Ruddle

series ordinal

3

1 reference

19 August 2017

publication date

1 December 2008

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19 August 2017

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19 August 2017

volume

29

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19 August 2017

issue

4

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19 August 2017

page(s)

149-161

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Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

19 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Genetics of population isolates.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

High frequencies of human genetic diseases: founder effect with genetic drift or selection?

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Isolates and their potential use in complex gene mapping efforts

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

A "Fille du Roy" introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Molecular basis of autosomal recessive diseases among the Palestinian Arabs

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Multiple mutations responsible for frequent genetic diseases in isolated populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

The fate of 12 recessive mutations in a single village

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Molecular genetic analysis of a consanguineous south Indian family with congenital glaucoma: relevance of genetic testing and counseling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Consanguinity and eye diseases with a potential genetic etiology. Data from a prevalence study in Andhra Pradesh, India

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Refined localization of the gene causing X-linked juvenile retinoschisis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Refinement of the locus for autosomal recessive cone-rod dystrophy (CORD8) linked to chromosome 1q23-q24 in a Pakistani family and exclusion of candidate genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Refinement of the locus for autosomal recessive Retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Further refinement of the Usher 2A locus at 1q41

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

A common ancestral origin of the frequent and widespread 2299delG USH2A mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

NRL S50T mutation and the importance of 'founder effects' in inherited retinal dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Genetic basis of congenital strabismus

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Complex trait genetics of refractive error

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Hereditary high hypermetropia in the Faroe Islands

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Nanophthalmos in a Melanesian population

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

A genome-wide search for chromosomal loci linked to bipolar affective disorder in the Old Order Amish

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

The epidemiology of age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

5-year incidence of age-related maculopathy in the Reykjavik Eye Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Complement factor H polymorphism and age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Assessment of the contribution of CFH and chromosome 10q26 AMD susceptibility loci in a Russian population isolate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

The relationship between glaucoma and pseudoexfoliation: the Blue Mountains Eye Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Risk of glaucoma in ocular hypertension with and without pseudoexfoliation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Prevalence of open-angle glaucoma in Iceland: Reykjavik Eye Study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Lysyl oxidase-like 1 polymorphisms and exfoliation syndrome in the Japanese population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Population history and its impact on medical genetics in Quebec

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Founder TIGR/myocilin mutations for glaucoma in the Québec population

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

The problem of overlapping glaucoma families in the Glaucoma Inheritance Study in Tasmania (GIST).

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Penetrance and phenotype of the Thr377Met Myocilin mutation in a large Finnish family with juvenile- and adult-onset primary open-angle glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Exclusion of candidate gene loci for adult onset primary open-angle glaucoma in a genetically isolated population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Genetic contributions to glaucoma: heritability of intraocular pressure, retinal nerve fiber layer thickness, and optic disc morphology

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Genomewide linkage scan for myopia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 22q12

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Genomewide scan in Ashkenazi Jewish families demonstrates evidence of linkage of ocular refraction to a QTL on chromosome 1p36.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Candidate high myopia loci on chromosomes 18p and 12q do not play a major role in susceptibility to common myopia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Heritability and familial aggregation of refractive error in the Old Order Amish

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Archival, demographic and genetic studies define a Sardinian sub-isolate as a suitable model for mapping complex traits.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Cohen syndrome in the Ohio Amish.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration)

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Mapping the locus of atrophia areata, a helicoid peripapillary chorioretinal degeneration with autosomal dominant inheritance, to chromosome 11p15

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

A new genetic locus for X linked progressive cone-rod dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

The Cohen syndrome: does mottled retina separate a Finnish and a Jewish type?

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Homozygosity mapping at Alström syndrome to chromosome 2p

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Linkage studies of Usher syndrome: analysis of an Acadian kindred in Louisiana

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet-Biedl syndrome 1 critical interval

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Genetic basis of total colourblindness among the Pingelapese islanders

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Hereditary blindness among Pingelapese people of Eastern Caroline Islands

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Genetic mapping of the gene for Usher syndrome: linkage analysis in a large Samaritan kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Usher syndrome in the Samaritans: strengths and limitations of using inbred isolated populations to identify genes causing recessive disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Ectodermal dysplasia, ectrodactyly and macular dystrophy (EEM syndrome) in siblings

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Juvenile cataract with autosomal recessive inheritance. A study from the Aland Islands, Finland

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Juvenile cataract in Hutterites

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Haplotype analysis in Icelandic families defines a minimal interval for the macular corneal dystrophy type I gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Pseudoexfoliation syndrome in Icelandic families

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Exfoliation syndrome: frequency, gender distribution and association with climatically induced alterations of the cornea and conjunctiva

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Hereditary ptosis of late onset: early observations on oculopharyngeal muscular dystrophy in Quebec by Roma Amyot

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG).

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

The genetically isolated populations of Finland and Sardinia may not be a panacea for linkage disequilibrium mapping of common disease genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

A Common Disease Haplotype for the Q368STOP Mutation of the Myocilin Gene in Australian and Canadian Glaucoma Families

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802334341

10.1080/13816810802334341

21 January 2018

Identifiers

DOI

1 reference

19 August 2017

1 reference