Nephrology Medical News about Bardet-Biedl syndrome

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Identification of 11 Novel Mutations in 8 BBS Genes by High-Resolution Homozygosity Mapping
Journal of Medical Genetics, 10/12/09

Harville HM et al. – Bardet–Biedl syndrome (BBS) is primarily an autosomal recessive disorder characterized by rod–cone dystrophy, obesity, hypogonadism, post–axial polydactyly, renal cysts, and other anomalies of the kidney and urinary tract. Thus, in the presence of extreme genetic locus heterogeneity, homozygosity mapping provides a valuable approach to the molecular genetic diagnosis of BBS and will facilitate the discovery of novel pathogenic mutations.

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Clinical and Molecular Characterization of Bardet-Biedl Syndrome in Consanguineous Populations: The Power of Homozygosity Mapping
Journal of Medical Genetics, 11/10/09 Relevance Score: 65%

Successful Treatment With Sumatriptan in a Case With Cyclic Vomiting Syndrome Combined With 18q– Syndrome
Journal of Child Neurology, 10/02/09 Relevance Score: 47%

Common infectious agents prevalence in antiphospholipid syndrome
Lupus, 11/05/09 Relevance Score: 46%

A Prospective Investigation of Biomechanical Risk Factors for Patellofemoral Pain Syndrome: The Joint Undertaking to Monitor and Prevent ACL Injury (JUMP-ACL) Cohort
American Journal of Sports Medicine, 11/02/09 Relevance Score: 46%

Adult-onset Still’s disease, Schnitzler syndrome, and autoinflammatory syndromes in adulthood
Zeitschrift für Rheumatologie, 10/29/09 Relevance Score: 46%