(Q24673323)

English

Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10209448%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10209448%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

congenital disorder

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1 reference

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inferred from title

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10209448%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

author name string

M Callaghan

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10209448%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

S M Kennedy

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10209448%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

J S FitzSimon

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10209448%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

L M Collum

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10209448%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

N A Parfrey

6

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Europe PubMed Central

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4 December 2019

language of work or name

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publication date

1 January 1999

1 reference

Europe PubMed Central

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4 December 2019

number of pages

5

1 reference

based on heuristic

inferred from page(s)

British Journal of Ophthalmology

1 reference

Europe PubMed Central

PMC publication ID

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4 December 2019

83

1 reference

Europe PubMed Central

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4 December 2019

1

1 reference

Europe PubMed Central

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4 December 2019

115-119

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10209448%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722772

7 April 2017

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722772

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722772

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722772

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722772

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722772

7 April 2017

Genetic influences on differentiation, mitosis, and dystrophies of the corneal endothelium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722772

28 September 2017

Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722772

28 September 2017

A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722772

28 September 2017

Novel approaches to linkage mapping.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722772

28 September 2017

Congenital endothelial corneal dystrophy. Clinical, pathological, and genetic study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722772

28 September 2017

Congenital hereditary corneal oedema of Maumenee: its clinical features, management, and pathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722772

28 September 2017

Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722772

28 September 2017

Corneal dystrophies. II. Endothelial dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722772

28 September 2017

Clinical Differentiation of Recessive Congenital Hereditary Endothelial Dystrophy and Dominant Hereditary Endothelial Dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722772

28 September 2017

The Clinical Spectrum of Posterior Polymorphous Dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722772

28 September 2017

Further studies of congenital hereditary endothelial dystrophy of the cornea.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722772

30 May 2018

Linkage of congenital hereditary endothelial dystrophy to chromosome 20.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722772

19 June 2018

Histology of congenital hereditary corneal dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/10209448

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping

1 reference

https://pubmed.ncbi.nlm.nih.gov/10209448

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Corneal opacities in infancy and childhood

1 reference

https://pubmed.ncbi.nlm.nih.gov/10209448

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing

1 reference

https://pubmed.ncbi.nlm.nih.gov/10209448

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage of posterior polymorphous corneal dystrophy to 20q11

1 reference

https://pubmed.ncbi.nlm.nih.gov/10209448

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygosity mapping of the Werner syndrome locus (WRN)

1 reference

https://pubmed.ncbi.nlm.nih.gov/10209448

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Endothelial alterations in congenital corneal dystrophies

1 reference

https://pubmed.ncbi.nlm.nih.gov/10209448

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

49 Rapid DNA isolations for enzymatic and hybridization analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/10209448

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygosity mapping and Werner's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10209448

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparison between posterior polymorphous dystrophy and congenital hereditary endothelial dystrophy of the cornea

1 reference

https://pubmed.ncbi.nlm.nih.gov/10209448

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital hereditary corneal dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/10209448

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital Hereditary Corneal Dystrophy*

1 reference

https://pubmed.ncbi.nlm.nih.gov/10209448

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The histological and ultrastructural pathology of congenital hereditary corneal dystrophy: a case report

1 reference

https://pubmed.ncbi.nlm.nih.gov/10209448

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/BJO.83.1.115

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10209448%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10209448%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10209448%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

ResearchGate publication ID

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