Journal of Medical Genetics articles from September 2001

Journal of Medical Genetics archives from September 2001

Defining the genetic contribution of type 2 diabetes mellitus.
September 1, 2001... Abstract Type 2 diabetes mellitus is a common multifactorial genetic syndrome, which is determined by several different genes and environmental factors. It now affects 150 million people world wide but its incidence is increasing rapidly...

Ectodermal dysplasias: a new clinical-genetic classification.
September 1, 2001... Abstract The ectodermal dysplasias (EDs) are a large and complex nosological group of diseases, first described by Thurnam in 1848. In the last 10 years more than 170 different pathological clinical conditions have been recognised and...

[[beta].sub.1]-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome.
September 1, 2001... Abstract Smith-Magenis syndrome (SMS) is a clinically recognisable contiguous gene syndrome ascribed to interstitial deletions of chromosome 17p11.2. Patients have a phase shift of their circadian rhythm of melatonin with a paradoxical...

Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location.
September 1, 2001... Abstract Background--Turner syndrome is characterised by a 45,X karyotype and a variety of skeletal, lymphoedemic, and gonadal anomalies. Genes involved in the Turner phenotype are thought to be X/Y homologous with the X genes escaping X...

Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism.
September 1, 2001... Abstract Neonatal haemochromatosis (NH) is a severe and newly recognised syndrome of uncertain aetiology, characterised by congenital cirrhosis or fulminant hepatitis and widespread tissue iron deposition. NH occurs in the context of...

Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies.
September 1, 2001... EDITOR--Guanylate cyclase (retGC-1) is a key enzyme in the recovery phase of phototransduction in both cone and rod photoreceptor cells. [1] Upon excitation by a photon of light, an enzymatic cascade of events occurs which leads to the...

A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population.
September 1, 2001... EDITOR--Nephropathic cystinosis (MIM 219800) is a rare autosomal recessively inherited lysosomal storage disorder with a newborn incidence of about 1 in 100 000-200 000 in the general population (OMIM). Cystine accumulates in lysosomes...

Standing Committee on Human Cytogenetic Nomenclature 2001-2006.(election results)
September 1, 2001... Elections for the Standing Committee on Human Cytogenetic Nomenclature were held at the 10th International Congress of Human Genetics in Vienna, Austria, on 16 June 2001. The following members were elected for the period 200 1-2006: Niels...

British Human Genetics Conference 2001 Programme.
September 1, 2001... Monday 10 September 2001 08:00-10:00 CLINICAL GENETICS SOCIETY - Council Meeting - Room VO44 Vanbrugh College 10:00-12:30 Concurrent sessions FUNCTIONAL SIGNIFICANCE OF SNPs ROLE IN COMMON DISEASE AND PHARMACOGENETICS ...