Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2. (Q34145298)

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4 November 2019

case report

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title

Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2. (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712223%20AND%20SRC:MED&resulttype=core&format=json

autosomal recessive congenital ichthyosis

4 November 2019

main subject

congenital disorder

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6

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4 November 2019

Iiris Hovatta

3

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4 November 2019

author name string

Virolainen E

1

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4 November 2019

Wessman M

2

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4 November 2019

Niemi KM

4

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4 November 2019

Ignatius J

5

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4 November 2019

Peltonen L

7

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4 November 2019

Palotie A

8

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4 November 2019

language of work or name

English

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publication date

1 March 2000

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American Journal of Human Genetics

4 November 2019

published in

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4 November 2019

volume

66

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4 November 2019

issue

3

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4 November 2019

page(s)

1132-1137

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Molecular genetics of the Finnish disease heritage.

4 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288147

Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288147

Assignment of the Tibial Muscular Dystrophy Locus to Chromosome 2q31

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288147

Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated 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=1288147

Consequences of seven novel mutations on the expression and structure of keratinocyte transglutaminase.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288147

Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea

5 July 2018

1 reference

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Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

5 July 2018

1 reference

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

5 July 2018

1 reference

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Faster sequential genetic linkage computations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288147

Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288147

Mutations of keratinocyte transglutaminase in lamellar ichthyosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288147

Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288147

Strategies for multilocus linkage analysis in humans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288147

Hereditary diseases in Finland; rare flora in rare soul

5 July 2018

1 reference

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Computer-simulation methods in human 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=1288147

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288147

'Touchdown' PCR to circumvent spurious priming during gene amplification

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288147

Muscular dystrophy with separate clinical phenotypes in a large family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288147

Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288147

Mapping of a second locus for lamellar ichthyosis to chromosome 2q33-35.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288147

Clinical Features of Autosomal Dominant and Sex-linked Ichthyosis in an English Population

28 October 2018

1 reference

12 December 2020

Heterogeneity in autosomal recessive ichthyosis. Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma

1 reference

12 December 2020

Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genome

1 reference

12 December 2020

Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity

1 reference

12 December 2020

Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway

1 reference

12 December 2020

Identifiers

DOI

10.1086/302813

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712223%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712223%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

PubMed publication ID

10712223

1 reference