Search Results - "Spierts, Sabine"

Mutation-specific effects in germline transmission of pathogenic mtDNA variants by Otten, Auke B C, Sallevelt, Suzanne C E H, Carling, Phillippa J, Dreesen, Joseph C F M, Drüsedau, Marion, Spierts, Sabine, Paulussen, Aimee D C, de Die-Smulders, Christine E M, Herbert, Mary, Chinnery, Patrick F, Samuels, David C, Lindsey, Patrick, Smeets, Hubert J M

“…Abstract STUDY QUESTION Does germline selection (besides random genetic drift) play a role during the transmission of heteroplasmic pathogenic mitochondrial…”
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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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Cell-Free RNA Is a Reliable Fetoplacental Marker in Noninvasive Fetal Sex Determination by Mersy, Elke, Faas, Brigitte H W, Spierts, Sabine, Houben, Leonie M H, Macville, Merryn V E, Frints, Suzanna G M, Paulussen, Aimee D C, Veltman, Joris A

“…Noninvasive genetic tests that use cell-free fetal DNA (cffDNA) are used increasingly in prenatal care. A low amount of cffDNA can have detrimental effects on…”
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