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To investigate a putative role of TSPYL1 in male idiopathic infertility.
SETTING… Expand Abstract 353 Sickle cell disease (SCD) impacts one of 400 African-Americans born each year. Augmentation of fetal hemoglobin (HbF… Expand We screened 100 individuals with anomalies of testicular development or function for mutations in the TSPYL1 gene. A 46,XY female… Expand Using a suppression subtractive hybridization method, we have previously identified genes differentially expressed in erythroid… Expand CONTEXT
We report herein a remarkable family in which the mother of a woman with 46,XY complete gonadal dysgenesis was found to… Expand Malignant glioma is the most common central nervous system tumor of adults and is associated with a significant degree of… Expand Background: Sudden infant death syndrome (SIDS) constitutes the most frequent cause of death in the postperinatal period in… Expand The genetic mechanisms underlying the continued expression of the gamma-globin genes during the adult stage in deletional… Expand We have identified a lethal phenotype characterized by sudden infant death (from cardiac and respiratory arrest) with dysgenesis… Expand