Primary Autosomal Recessive Microcephaly: Homozygosity Mapping of MCPH4 to Chromosome 15

Case ReportsLetterResearch Support, Non-U.S. Gov'tSCOPUS: le.jinfo:eu-repo/semantics/publishe

A genome-wide linkage scan in a Dutch family identifies a premature ovarian failure susceptibility locus

BACKGROUND: Premature ovarian failure (POF) is characterized by elevated gonadotrophins and amenorrhea before the age of 40 years and occurs approximately in 1% of women. POF etiology is highly heterogeneous with a wide spectrum of etiological pathogenic mechanisms including genetic causes. These mostly involve numerical, structural or monogenic defects on the X-chromosome. Mutations in a small number of autosomal genes (such as FOXL2 and NOBOX) have been identified as a cause of POF. However, in most cases, the disease underlying mechanisms are largely unknown. METHODS: We performed a genome-wide linkage analysis in a relatively large Dutch family with seven patients suffering from POF, showing a domin

CMS : the TriDAS Project Technical Design Report; v.1, the Trigger Systems

CM