Latest papers

Validation of a urine test and characterization of the putative genetic mutation for hyperuricosuria in Bulldogs and Black Russian Terriers.

Manifesting carriage of a Duchenne muscular dystrophy mutation: an unusual cause of impaired lung function in CF.

Editorial: identifying the genetic and environmental influences on psychological outcomes.

GINA: What PAs need to know to protect patients and their families.

Emergence of gene mutation carriers and the expanding disease spectrum of hypertrophic cardiomyopathy.

Periodic acid-schiff is superior to hematoxylin and eosin for screening prophylactic gastrectomies from CDH1 mutation carriers.

Emerging therapeutic approaches to mitochondrial diseases.

Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family.

Genotype-phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations.

Dimeric gold nanoparticle assembly for detection and discrimination of single nucleotide mutation in Duchenne muscular dystrophy

Polymorphisms of alcohol dehydrogenase-1B and aldehyde dehydrogenase-2 and the blood and salivary ethanol and acetaldehyde concentrations of Japanese alcoholic men.

Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1).

Novel homozygous mutation (c.175delG) in platelet glycoprotein ITGA2B gene as cause of Glanzmann's thrombasthenia type I.

[Risperidone intoxication in a patient with a genetic predisposition as poor [non]metabolizer].

Population genetic structure of Anopheles gambiae and Anopheles arabiensis in Niger.

Compound heterozygosity of the protein S-gene as a cause of severe cerebral sinovenous thrombosis in a 7-year-old child.

Best practices: antenatal screening for common genetic conditions other than aneuploidy.

Association of tumor necrosis factor-alpha gene promoter polymorphisms with acute viral hepatitis in the Indian population.

Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease.

Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry.