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Biomedical subjects

T Gedde-Dahl

Publications and source records attributed to T Gedde-Dahl.

At least 145 records · Page 8Linked to original sources

Improved estimate of the Gm-Pi linkage.

The Gm-Piota linkage group is firmly established. A heterogeneity of recombination fraction amongst males of different Piota types has now become very likely. The major differences seem to be between the Piota (z) and other alleles of the Pi system. A chromosomal deletion, inversion or a regulatory (rec) locus in linkage disequilibrium with the Piota locus offer possible explanations.

Alleles↗

Ultrastructural studies in epidermolysis bullosa heriditaria. I. Dominant dystrophic type of Pasini.

Ultrastructural examination was performed in 8 biopsies from 4 patients with the Pasini type of epidermolysis bullosa dystrophica dominans. The biopsies were taken from: 1. clinically normal skin from nonpredilection areas, 2. intact skin from predilection areas, 3. involved skin and 4. experimentally frictioned skin. The main ultrastructural alterations detected are as follows: hypoplasia of anchoring fibrils, split or blister formation between basal lamina and dermis, hernia-like protrusion of basal cells, sub- and intraepidermal deposition of fibrillar bodies, and duplications of basal lamina. Among them, the constantly observed finding in all of the four biopsy groups in the structural defect of anchoring fibrils, namely, that the anchoring fibrils are rudimentary and reduced in number. Presence of the structural defect of anchoring fibrils in clinically normal skin from nonpredilection areas in patients with the Pasini type of epidermolysis bullosa dystrophica dominans indicates that this defect is not a secondary change following repeated mechanical trauma, but a primary, genetically determined event.

Aged↗

Phenotype-genotype correlations in epidermolysis bullosa.

In Norway, epidermolysis bullosa (EB) has been studied from the clinical, genetic and epidemiologic viewpoints. Heterogeneity is found both in the EB simplex (EBS) and the EB dystrophica (EBD) group. One new EBS and two new EBD varieties were found in addition to previously known types. At least five nonidentical recessive EBD genes could be defined and suggestive evidence for allelism between some of them were found. A classification of hereditary EB is presented.

Adolescent↗