Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Haplotype association and mutation analysis of the transglutaminase 1 gene for prenatal exclusion of lamellar ichthyosis.

Prenatal diagnosis - 1 Feb 2000

Pigg M, Gedde-Dahl T, Cox D W, Haugen G, Dahl N

Abstract excerpt

Lamellar ichthyosis (LI) is an autosomal recessive keratinization disorder of the skin. Genetic heterogeneity has been shown for the disease and there is evidence for the involvement of the transglutaminase 1 (TGM1) gene on chromosome 14q11. We have previously identified chromosome 14q11 haplotypes associated with ichthyosis in the Norwegian population. In this paper we describe antenatal exclusion of ichthyosis...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomes, Human, Pair 14
Share to DNA Restriction Enzymes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Haplotypes

Share to Ichthyosis, Lamellar

Share to Norway

Share to Pregnancy

Share to Prenatal Diagnosis

Share to Transglutaminases

Source

Identifiers

PMID: 10694685
DOI: 10.1002/(sici)1097-0223(200002)20:2<132::aid-pd765>3.0.co;2-0

Genes

TGM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Haplotype association and mutation analysis of the transglutaminase 1 gene for prenatal exclusion of lamellar ichthyosis.PMID 10694685Read ↗

Prenatal exclusion of lamellar ichthyosis based on identification of two new mutations in the transglutaminase 1 gene.Semantic proximity Read ↗

Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway.Semantic proximity Read ↗

Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.Semantic proximity Read ↗

Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.Semantic proximity Read ↗

Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies.Semantic proximity Read ↗

Transglutaminase-1 mutations in Omani families with lamellar ichthyosis.Semantic proximity Read ↗

Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis.Semantic proximity Read ↗

Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.Semantic proximity Read ↗

Identification and clinical consequences of a novel mutation in the gene for transglutaminase 1 in a patient with lamellar ichthyosis.Semantic proximity Read ↗

Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity.Semantic proximity Read ↗

Transglutaminase 1 gene mutations in Italian patients with autosomal recessive lamellar ichthyosis.Semantic proximity Read ↗

A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.