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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
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, n. 12, p. 1632, doi. 10.1016/j.jalz.2018.06.3056
By:
- Nicolas, Gaël;
- Acuña‐Hidalgo, Rocío;
- Keogh, Michael J.;
- Quenez, Olivier;
- Steehouwer, Marloes;
- Lelieveld, Stefan;
- Rousseau, Stéphane;
- Richard, Anne‐Claire;
- Oud, Manon S.;
- Marguet, Florent;
- Laquerrière, Annie;
- Morris, Chris M.;
- Attems, Johannes;
- Smith, Colin;
- Ansorge, Olaf;
- Al Sarraj, Safa;
- Frebourg, Thierry;
- Campion, Dominique;
- Hannequin, Didier;
- Wallon, David
Publication type:
Article
Scrutinizing the human TEX genes in the context of human male infertility.
Published in:
Andrology, 2024, v. 12, n. 3, p. 570, doi. 10.1111/andr.13511
By:
- Sieper, Marie. H.;
- Gaikwad, Avinash S.;
- Fros, Marion;
- Weber, Philipp;
- Di Persio, Sara;
- Oud, Manon S.;
- Kliesch, Sabine;
- Neuhaus, Nina;
- Stallmeyer, Birgit;
- Tüttelmann, Frank;
- Wyrwoll, Margot J.
Publication type:
Article
Linking human Dead end 1 (DND1) variants to male infertility employing zebrafish embryos.
Published in:
Human Reproduction, 2023, v. 38, n. 4, p. 655, doi. 10.1093/humrep/dead031
By:
- Westerich, Kim Joana;
- Reinecke, Solveig;
- Emich, Jana;
- Wyrwoll, Margot Julia;
- Stallmeyer, Birgit;
- Meyer, Matthias;
- Oud, Manon S;
- Fietz, Daniela;
- Pilatz, Adrian;
- Kliesch, Sabine;
- Reichman-Fried, Michal;
- Tarbashevich, Katsiaryna;
- Limon, Tamara;
- Stehling, Martin;
- Friedrich, Corinna;
- Tüttelmann, Frank;
- Raz, Erez
Publication type:
Article
A systematic review and standardized clinical validity assessment of male infertility genes.
Published in:
2019
By:
- Oud, Manon S;
- Volozonoka, Ludmila;
- Smits, Roos M;
- Vissers, Lisenka E L M;
- Ramos, Liliana;
- Veltman, Joris A
Publication type:
journal article
Programmed Cell Death 2-Like (Pdcd2l) Is Required for Mouse Embryonic Development.
Published in:
G3: Genes | Genomes | Genetics, 2020, v. 10, n. 12, p. 4449, doi. 10.1534/g3.120.401714
By:
- Houston, Brendan J.;
- Oud, Manon S.;
- Aguirre, Daniel M.;
- Merriner, D. Jo;
- O'Connor, Anne E.;
- Okutman, Ozlem;
- Viville, Stéphane;
- Burke, Richard;
- Veltman, Joris A.;
- O'Bryan, Moira K.
Publication type:
Article
WWC2 expression in the testis: Implications for spermatogenesis and male fertility.
Published in:
FASEB Journal, 2023, v. 37, n. 5, p. 1, doi. 10.1096/fj.202200960R
By:
- Höffken, Verena;
- Di Persio, Sara;
- Laurentino, Sandra;
- Wyrwoll, Margot J.;
- Terwort, Nicole;
- Hermann, Anke;
- Röpke, Albrecht;
- Oud, Manon S.;
- Wistuba, Joachim;
- Kliesch, Sabine;
- Pavenstädt, Hermann J.;
- Tüttelmann, Frank;
- Neuhaus, Nina;
- Kremerskothen, Joachim
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
Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia.
Published in:
Human Mutation, 2017, v. 38, n. 11, p. 1592, doi. 10.1002/humu.23312
By:
- Oud, Manon S.;
- Ramos, Liliana;
- O'Bryan, Moira K.;
- McLachlan, Robert I.;
- Okutman, Özlem;
- Viville, Stephane;
- Vries, Petra F.;
- Smeets, Dominique F.C.M.;
- Lugtenberg, Dorien;
- Hehir‐Kwa, Jayne Y.;
- Gilissen, Christian;
- de Vorst, Maartje;
- Vissers, Lisenka E.L.M.;
- Hoischen, Alexander;
- Meijerink, Aukje M.;
- Fleischer, Kathrin;
- Veltman, Joris A.;
- Noordam, Michiel J.
Publication type:
Article

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