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Diverse monogenic subforms of human spermatogenic failure.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-35661-z
By:
- Nagirnaja, Liina;
- Lopes, Alexandra M.;
- Charng, Wu-Lin;
- Miller, Brian;
- Stakaitis, Rytis;
- Golubickaite, Ieva;
- Stendahl, Alexandra;
- Luan, Tianpengcheng;
- Friedrich, Corinna;
- Mahyari, Eisa;
- Fadial, Eloise;
- Kasak, Laura;
- Vigh-Conrad, Katinka;
- Oud, Manon S.;
- Xavier, Miguel J.;
- Cheers, Samuel R.;
- James, Emma R.;
- Guo, Jingtao;
- Jenkins, Timothy G.;
- Riera-Escamilla, Antoni
Publication type:
Article
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure.
Published in:
Human Genetics, 2021, v. 140, n. 8, p. 1169, doi. 10.1007/s00439-021-02287-y
By:
- Hardy, Jimmaline J.;
- Wyrwoll, Margot J.;
- Mcfadden, William;
- Malcher, Agnieszka;
- Rotte, Nadja;
- Pollock, Nijole C.;
- Munyoki, Sarah;
- Veroli, Maria V.;
- Houston, Brendan J.;
- Xavier, Miguel J.;
- Kasak, Laura;
- Punab, Margus;
- Laan, Maris;
- Kliesch, Sabine;
- Schlegel, Peter;
- Jaffe, Thomas;
- Hwang, Kathleen;
- Vukina, Josip;
- Brieño-Enríquez, Miguel A.;
- Orwig, Kyle
Publication type:
Article
Phase II Study of Estramustine and Vinorelbine in Hormone-Refractory Prostate Carcinoma Patients.
Published in:
Acta Oncologica, 1998, v. 37, n. 2, p. 187, doi. 10.1080/028418698429757
By:
- Joan Carles, Montserrat Domenech, Antonio Gelabert-Mas, Miquel Nogue, Josep M. Tabernero, Angeles Arcusa, Inmaculada Guasch, Ana Miguel, Juan J. Ballesteros, Xavier Fabregat
Publication type:
Article
The Rho-Family GTPase Rac1 Regulates Integrin Localization in Drosophila Immunosurveillance Cells.
Published in:
PLoS ONE, 2011, v. 6, n. 5, p. 1, doi. 10.1371/journal.pone.0019504
By:
- Xavier, Miguel J.;
- Williams, Michael J.
Publication type:
Article
Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 9, p. 988, doi. 10.1038/ejhg.2012.293
By:
- Zheleznyakova, Galina Y;
- Voisin, Sarah;
- Kiselev, Anton V;
- Sällman Almén, Markus;
- Xavier, Miguel J;
- Maretina, Marianna A;
- Tishchenko, Lyudmila I;
- Fredriksson, Robert;
- Baranov, Vladislav S;
- Schiöth, Helgi B
Publication type:
Article
A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Published in:
2022
By:
- Houston, Brendan J;
- Riera-Escamilla, Antoni;
- Wyrwoll, Margot J;
- Salas-Huetos, Albert;
- Xavier, Miguel J;
- Nagirnaja, Liina;
- Friedrich, Corinna;
- Conrad, Don F;
- Aston, Kenneth I;
- Krausz, Csilla;
- Tüttelmann, Frank;
- O'Bryan, Moira K;
- Veltman, Joris A;
- Oud, Manon S
Publication type:
journal article
Phasing of de novo mutations using a scaled‐up multiple amplicon long‐read sequencing approach.
Published in:
Human Mutation, 2022, v. 43, n. 11, p. 1545, doi. 10.1002/humu.24450
By:
- Holt, Giles S.;
- Batty, Lois E.;
- Alobaidi, Bilal K. S.;
- Smith, Hannah E.;
- Oud, Manon S.;
- Ramos, Liliana;
- Xavier, Miguel J.;
- Veltman, Joris A.
Publication type:
Article
Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-50930-9
By:
- Stallmeyer, Birgit;
- Bühlmann, Clara;
- Stakaitis, Rytis;
- Dicke, Ann-Kristin;
- Ghieh, Farah;
- Meier, Luisa;
- Zoch, Ansgar;
- MacKenzie MacLeod, David;
- Steingröver, Johanna;
- Okutman, Özlem;
- Fietz, Daniela;
- Pilatz, Adrian;
- Riera-Escamilla, Antoni;
- Xavier, Miguel J.;
- Ruckert, Christian;
- Di Persio, Sara;
- Neuhaus, Nina;
- Gurbuz, Ali Sami;
- Şalvarci, Ahmet;
- Le May, Nicolas
Publication type:
Article
Improved methods of DNA extraction from human spermatozoa that mitigate experimentally-induced oxidative DNA damage.
Published in:
PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0195003
By:
- Xavier, Miguel J.;
- Nixon, Brett;
- Roman, Shaun D.;
- Aitken, Robert John
Publication type:
Article

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