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2009 NOV 11 ... families affected with AS. Segregation analysis and pedigree investigation suggested an autosomal dominant inheritance. Pairwise logarithm of odds (LOD) scores were calculated using LINKAGE ...
2009 NOV 23 ... HAE is a genetic disorder caused by a deficiency of C1-INH and is inherited in an autosomal dominant manner. Symptoms of HAE include episodes of edema or swelling in the face and the ...
2009 NOV 24 ... "Mutations in MYH9 result in the autosomal dominant giant platelet disorders with leukocyte inclusion bodies with varying degrees of Alport ...
2009 NOV 16 ... A score of one represents a person who had at least three relatives with dementia and an autosomal dominant inheritance, meaning that an affected person has one mutant gene and one normal gene and ...
2009 NOV 16 ... According to a study from the United Kingdom, "The majority of patients with autosomal dominant optic atrophy (DOA) harbor pathogenic OPA1 mutations and certain missense mutations, ...
2009 NOV 24 ... from Yokohama, Japan, "Birt-Hogg-Dube (BHD) syndrome is a rare disorder inherited in an autosomal dominant manner. The affected patients are predisposed to cutaneous fibrofolliculomas, renal cell ...
2009 NOV 16 ... to a study from Kobe, Japan, "Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary disease. Primary hyperparathyroidism is known to occur at an early age in ...
2009 NOV 23 ... to 10,000 Americans and is caused by a deficiency of C1-INH, which is inherited in an autosomal dominant manner. Patients who have abdominal attacks can experience episodes of severe pain, ...
2009 NOV 23 ... wrote P. Paliwal and colleagues. The researchers concluded: "All autosomal dominant stromal dystrophies should be screened for underlying mutations in TGFBI because the ...
2009 NOV 23 ... According to a study from South Korea, "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary ...
2009 NOV 23 ... recent research from Prague, Czech Republic, "Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder caused by mutations in cardiac sarcomeric proteins. Troponin I (TNNI3) and ...
2009 NOV 20 ... by the occurrence of parathyroid, pituitary, and pancreatic tumors. MEN1, an autosomal dominant disorder, has a high degree of penetrance, such that more than 95% of patients develop ...
2009 NOV 23 ... to a study from Toronto, Canada, "Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disease characterised by vascular dysplasia complicated by visceral arteriovenous ...
2009 NOV 16 ... "Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in a variety of organs and ...
2009 NOV 16 ... been detected in the familial type-IB isolated GH deficiency (IGHD-IB) inherited as an autosomal recessive disorder and characterized by a low but detectable serum GH level and good ... patients and allowed to discover a novel mechanism of the disease caused by a recurrent dominant mutation in the GHRHR signal peptide associated with incomplete penetrance. (J Clin ...
2009 NOV 23 ... epilepsy gene LGI1, encoding leucine-rich, glioma-inactivated protein-1 and mutated in autosomal dominant lateral temporal lobe epilepsy (ADLTE), mediates this process in hippocampus," ...
2009 NOV 10 ... in the TRPC6 gene have been reported in six families with adult-onset (17-57 years) autosomal dominant focal segmental glomerulosclerosis (FSGS). Electrophysiology studies confirmed augmented ...
2009 NOV 16 ... neurons' have been presented. "The Lgi1 protein is involved in the pathogenesis of autosomal dominant lateral temporal epilepsy because mutations in the leucine-rich, glioma-inactivated 1 ...
2009 NOV 10 ... Republic of China conducted a study "To identify the genetic defects associated with autosomal dominant congenital nuclear cataract in a Chinese family. Clinical data were collected, and the ...
2009 NOV 16 ... According to recent research from Sheffield, the United Kingdom, "Autosomal dominant polycystic kidney disease (ADPKD) results from mutations in either PKD1 or PKD2 and ...
