(Q38886307)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12164927%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28 (English)

1 reference

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11 November 2019

1 reference

12

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11 November 2019

Smail Hadj-rabia

2

1 reference

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11 November 2019

Pierre Vabres

13

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11 November 2019

7

Emmanuel Jacquemin

1 reference

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11 November 2019

author name string

Lekbir Baala

1

1 reference

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11 November 2019

Dominique Hamel-Teillac

3

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11 November 2019

Michelle Hadchouel

4

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11 November 2019

Catherine Prost

5

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11 November 2019

Suzanne M Leal

6

1 reference

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11 November 2019

Abdelaziz Sefiani

8

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11 November 2019

Yves De Prost

9

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11 November 2019

Gilles Courtois

10

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11 November 2019

Arnold Munnich

11

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11 November 2019

language of work or name

English

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publication date

1 July 2002

1 reference

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Journal of Investigative Dermatology

11 November 2019

published in

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11 November 2019

volume

119

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11 November 2019

issue

1

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11 November 2019

page(s)

70-76

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https://scigraph.springernature.com/pub.10.1046/j.1523-1747.2002.01809.x

11 November 2019

exact match

0 references

cites work

Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma

1 reference

12 December 2020

Desmosomes: structure and function in normal and diseased epidermis

1 reference

12 December 2020

Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome

1 reference

12 December 2020

Identification of PAHX, a Refsum disease gene

1 reference

12 December 2020

Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity

1 reference

12 December 2020

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

1 reference

12 December 2020

Dorfman-Chanarin syndrome in a Turkish kindred: conductor diagnosis requires analysis of multiple eosinophils

1 reference

12 December 2020

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

1 reference

12 December 2020

Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity.

1 reference

12 December 2020

Linkage disequilibrium mapping in isolated populations: the example of Finland revisited

1 reference

12 December 2020

Comprehensive human genetic maps: individual and sex-specific variation in recombination

1 reference

12 December 2020

IL-1 signaling cascade in liver cells and the involvement of a soluble form of the IL-1 receptor accessory protein

1 reference

12 December 2020

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

1 reference

12 December 2020

Faster sequential genetic linkage computations

1 reference

12 December 2020

Keratinocyte growth regulation in defined organotypic cultures through IL-1-induced keratinocyte growth factor expression in resting fibroblasts

1 reference

12 December 2020

Desmosomes: intercellular adhesive junctions specialized for attachment of intermediate filaments.

1 reference

12 December 2020

Keratitis, hepatitis, ichthyosis, and deafness: report and review of KID syndrome

1 reference

12 December 2020

N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma

1 reference

12 December 2020

Congenital ichthyosis with hypogonadism and growth retardation--a new syndrome with peculiar ultrastructural features

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).

1 reference

12 December 2020

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

1 reference

12 December 2020

Neutral-lipid storage disease: a new disorder of lipid metabolism

1 reference

12 December 2020

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Linkage disequilibrium as a gene-mapping tool.

1 reference

12 December 2020

Inherited ichthyoses: a review of the histology of the skin

1 reference

12 December 2020

Ichthyosis, hepatosplenomegaly, and cerebellar degeneration in a sibship

1 reference

12 December 2020

Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Ichthyosiform dermatosis with systemic lipidosis.

1 reference

12 December 2020

Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene

1 reference

12 December 2020

Infantile refsum disease in four Amish sibs.

1 reference

12 December 2020

10.1046/J.1523-1747.2002.01809.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12164927%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

11 November 2019

0 references

1 reference

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11 November 2019

PubMed publication ID

12164927

1 reference