Alberto Barros

TL;DR: Findings could contribute to an explanation of the cause of Silver-Russell syndrome in children born with H19 hypomethylation after assisted reproductive technologies (ART), and unmethylation of the CTCF-binding site could lead to inactivation of the paternal IGF2 gene, and be linked to decreased embryo quality and birth weight.

TL;DR: The data suggest an association between abnormal genomic imprinting and hypospermatogenesis, and that spermatozoa from oligozoospermic patients carry a raised risk of transmitting imprinting errors.

TL;DR: It is concluded that the deletion of the DAZ1/DAZ2 gene doublet in five out of the authors' 63 oligozoospermic patients (8%) is responsible for the patients' reduced sperm numbers, most likely caused by intrachromosomal recombination events between two long repetitive sequence blocks (AZFc-Rep1) flanking theDAZ gene structures.

TL;DR: It is shown that similar AZFa deletions occur with a frequency of 9% in the SCO patient group, which may provide a valuable prognostic tool for infertility clinics performing testicular sperm extraction, as it would enable the exclusion of AZFa patients with a complete SCO syndrome.

TL;DR: In the near future, with the development of more powerful techniques, the genetic causes of sperm immotility and the regulatory mechanisms of sperm motility will be better understand, thus enabling to perform a full diagnosis and uncover new therapies.