Search Results - "van Golde, Ronald J T"

Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success by Sallevelt, Suzanne C E H, Dreesen, Joseph C F M, Drüsedau, Marion, Spierts, Sabine, Coonen, Edith, van Tienen, Florence H J, van Golde, Ronald J T, de Coo, Irineus F M, Geraedts, Joep P M, de Die-Smulders, Christine E M, Smeets, Hubert J M

“…Mitochondrial or oxidative phosphorylation diseases are relatively frequent, multisystem disorders; in about 15% of cases they are caused by maternally…”
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PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy by Sallevelt, Suzanne C.E.H., Dreesen, Joseph C.F.M., Drüsedau, Marion, Hellebrekers, Debby M.E.I., Paulussen, Aimee D.C., Coonen, Edith, van Golde, Ronald J.T., Geraedts, Joep P.M., Gianaroli, Luca, Magli, Maria C., Zeviani, Massimo, Smeets, Hubert J.M., de Die-Smulders, Christine E.M.

“…Abstract We report on the first PGD performed for the m.14487 T>C mitochondrial DNA (mtDNA) mutation in the MT-ND6 gene, associated with Leigh syndrome. The…”
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