title: Genetic approaches to unraveling reproductive disorders: examples of bedside to bench research in the genomic era.
abstract: Despite the rapid advances in medical genetics, many clinicians and investigators remain unaware of the general approaches that can be used to map genes. Although there are specific challenges to using genetic approaches in reproductive medicine, the following report summarizes mapping efforts for three diseases: adrenal hypoplasia congenita, hypergonadotropic ovarian failure, and polycystic ovary syndrome. The themes of rare and novel phenotypes, genetically homogenous populations, and genotype/phenotype correlations are emphasized.
authors.affiliation: Reproductive Endocrine Unit and Harvard-Wide Reproductive Endocrine Sciences Center and National Center for Infertility Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. seminara.stephanie@mgh.harvard.edu
authors.forename: Stephanie B
authors.initials: SB
authors.lastname: Seminara
authors.forename: William F
authors.initials: WF
authors.lastname: Crowley
mesh_terms: D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D005821:Genetic Techniques; D023281:Genomics; D006801:Humans; D007246:Infertility / Q000235:genetics*; D010641:Phenotype; D011085:Polycystic Ovary Syndrome / Q000235:genetics; D016649:Primary Ovarian Insufficiency / Q000235:genetics; D018168:Receptors, Retinoic Acid / Q000235:genetics; D012097:Repressor Proteins; D012106:Research; D014157:Transcription Factors / Q000235:genetics
chemical_list: D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; C539965:NR0B1 protein, human; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins; D014157:Transcription Factors