Spinal muscular atrophy (SMA) is caused by mutations in the SMN1 gene. We have studied
the molecular pathology of SMA in 745 unrelated Spanish patients using PCR-RFLP, SMN …

Meiotic recombination in Saccharomyces cerevisiae is initiated by programmed DNA double-
strand breaks (DSBs), a process that requires the Spo11 protein. DSBs usually occur in …

Hemophilia A and B are the most common hereditary hemorrhagic disorders, with an X-
linked mode of inheritance. Reproductive options for the families affected with hemophilia …

The alginate lyase-encoding gene (algL) of Azotobacter chroococcum was localized to a 3.1-
kb Eco RI DNA fragment that revealed an open reading frame of 1,116 bp. This open …

Preimplantation genetic diagnosis (PGD) of genetic diseases, combined with HLA matching
(PGD-HLA), is an option for couples at risk of transmitting a genetic disease to select …

Context: Little is known about the etiology of sporadic medullary thyroid carcinoma (sMTC).
While germline gain-of-function mutations in the RET proto-oncogene cause hereditary …

Fragile X syndrome (FXS) accounts for about one-half of cases of X-linked intellectual
disability and is the most common monogenic cause of mental impairment. Reproductive …

Preimplantation genetic diagnosis (PGD) of single gene disorders, combined with HLA
matching (PGD-HLA), has emerged as a tool for couples at risk of transmitting a genetic …

OBJECTIVE: To develop a multiplex polymerase chain reaction (PCR) method for
Huntington disease (HD) preimplantation genetic diagnosis (PGD) based on the …

Myotonic dystrophy type 1 (DM1) is the most common adult muscular dystrophy and
presents an autosomal dominant inheritance. A reproductive option for the families affected …