Deleterious variants in TAF7L cause human oligoasthenoteratozoospermia and its impairing histone to protamine exchange inducing reduced in vitro fertilization.
Purging human ovarian cortex of contaminating leukaemic cells by targeting the mitotic catastrophe signalling pathway.
Journal Of Assisted Reproduction And Genetics
Eijkenboom, Lotte L; Mulder, Callista C; van der Reijden, Bert B; van Mello, Norah N; van Leersum, Julia J; Koorenhof-Scheele, Thessa T; Braat, Didi D; Beerendonk, Catharina C; Peek, Ronald R
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: AURKC: 145delC; Leu49fs
Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population.
Journal Of Assisted Reproduction And Genetics
Ghédir, Houda H; Gribaa, Moez M; Mamaî, Ons O; Ben Charfeddine, Ilhem I; Braham, Asma A; Amara, Abdelbasset A; Mehdi, Meriem M; Saad, Ali A; Ibala-Romdhane, Samira S