Pubblicazioni scientifiche

Development and clinical application of a strategy for PGD of single gene disorders combined with HLA matching.
Preimplantation HLA matching has recently emerged as a tool for couples desiring to conceive a potential donor progeny for transplantation in a sibling with a life-threatening disorder. In this paper we describe a strategy optimized for ...

Birth of a healthy female after preimplantation genetic diagnosis for Charcot-Marie-Tooth type X
The X-linked dominant form of Charcot-Marie-Tooth syndrome (CMTX) is a clinically and genetically heterogeneous hereditary disorder of the peripheral nerves caused by mutations in the GJB1 gene that encodes a gap junction protein named connexin 32 (...

Clinical value of preimplantation genetic diagnosis
Autori: Gianaroli L, Magli MC, Fiorentino F, Baldi M, Ferraretti AP The clinical application of preimplantation genetic diagnosis (PGD) has provided an alternative approach for the prevention of affected pregnancies in couples at high ...

The minisequencing method: an alternative strategy for preimplantation genetic diagnosis of single gene disorders
We have applied a new method of genetic analysis, called 'minisequencing', to preimplantation genetic diagnosis (PGD) of monogenic disorders from single cells. This method involves computer-assisted mutation analysis, which allows exact base identity...

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