Huntington disease is associated with an unstable and expanded (CAG) trinucleotide repeat.
We have analysed the CAG expansion in different tissues from 12 affected individuals. All …

Beckwith–Wiedemann syndrome (BWS) presents with visceromegaly, macroglossia, tumor
predisposition and other congenital abnormalities, and is usually associated with …

Dominantly inherited progressive hearing loss DFNA38 is caused by heterozygosity for a
novel mutation in WFS1, the gene for recessively inherited Wolfram syndrome. Wolfram …

Igf2 and H19 exhibit parent-of-origin-specific monoallelic expression. H19 is expressed
from the maternal chromosome and Igf2 from the paternal. The two genes share enhancer …

The Smith-Lemli-Opitz syndrome (SLOS) is characterized by microcephaly, growth and mental
retardation, unusual face, syndactyly of toes 2 and 3, and genital abnormalities. Since the …

The majority of, but not all, women with mutations in the BRCAI gene will be affected with
breast or ovarian cancer by the age of 70. To establish whether known risk factors modify …

Myoglobin is thought to facilitate oxygen transport within cells. 1 However, alternative
functions such as nitric oxide scavenging have also been suggested. 2 High myoglobin …

Ever since Sorsby described his pseudoinflammatory dystrophy in five families, its
characteristics have been unclear. The findings in ten affected members of a seven-generation …

Our group previously described and mapped to chromosomal region 12p13 a form of
dominantly inherited hereditary spastic ataxia (HSA) in three large Newfoundland (Canada) …

… Bernhard HF Weber", Gudrun Vogt", Werner Wolz, Elizabeth J. Ives" & Cecil C. Ewing" …
Hamilton, WK, Ewing, CC, Ives, EJ 8. Carruthers, JD Sorsby's fundus dystrophy. Ophthalmology 96…