(Q57785037)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9820027%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

title

Use of isolated inbred human populations for identification of disease genes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9820027%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

1

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6 December 2019

Edwin M. Stone

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9820027%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

author name string

R Carmi

series ordinal

3

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6 December 2019

publication date

1 October 1998

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6 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9820027%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

volume

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9820027%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9820027%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

page(s)

391-396

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9820027%20AND%20SRC:MED&resulttype=core&format=json

A polymorphic DNA marker genetically linked to Huntington's disease

6 December 2019

cites work

1 reference

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7 January 2021

Positional cloning: let's not call it reverse anymore

1 reference

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7 January 2021

A second-generation linkage map of the human genome

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7 January 2021

The 1993-94 Généthon human genetic linkage map

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7 January 2021

A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC)

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7 January 2021

An STS-based map of the human genome

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7 January 2021

A Gene Map of the Human Genome

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7 January 2021

ICCBnet: a bioinformatics initiative for developing regions

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7 January 2021

Positional cloning moves from perditional to traditional

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

Identification of a gene that causes primary open angle glaucoma.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

A comparison of three affected-sib-pair scoring methods to detect HLA-linked disease susceptibility genes

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7 January 2021

Extreme discordant sib pairs for mapping quantitative trait loci in humans

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7 January 2021

Genetic dissection of complex traits

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https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands

1 reference

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7 January 2021

Asthma on Tristan da Cunha: looking for the genetic link. The University of Toronto Genetics of Asthma Research Group.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

A gene for Leber's congenital amaurosis maps to chromosome 17p

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

Genetic and physical mapping of the McKusick-Kaufman syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

Use of pooled DNA samples to detect linkage disequilibrium of polymorphic restriction fragments and human disease: studies of the HLA class II loci

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

Positional cloning of the Werner's syndrome gene

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

A genome-wide search for human type 1 diabetes susceptibility genes

1 reference

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7 January 2021

A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

A putative vulnerability locus to multiple sclerosis maps to 5p14-p12 in a region syntenic to the murine locus Eae2

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

Genetic mapping using haplotype, association and linkage methods suggests a locus for severe bipolar disorder (BPI) at 18q22-q23.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

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

1 reference

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7 January 2021

Defective myosin VIIA gene responsible for Usher syndrome type 1B

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

A receptor-mediated pathway for cholesterol homeostasis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

Candidate genes, small effects, and the prediction of atherosclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

The influence of phenylalanine intake on the chemistry and behaviour of a phenyl-ketonuric child.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

Homozygous defect in HIV-1 coreceptor accounts for resistance of some multiply-exposed individuals to HIV-1 infection

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

Resistance to HIV-1 infection in caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

A chemokine receptor CCR2 allele delays HIV-1 disease progression and is associated with a CCR5 promoter mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901556-X

7 January 2021

10.1016/S0168-9525(98)01556-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9820027%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

1 reference