A biallelic loss of function variant in HORMAD1 within a large consanguineous Turkish family is associated with spermatogenic arrest
Okutman, Ozlem, Boivin, Manon, Muller, Jean, Charlet-Berguerand, Nicolas, Viville, Stéphane
Published in Human reproduction (Oxford) (01.02.2023)
Published in Human reproduction (Oxford) (01.02.2023)
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Genetics of infertility: a paradigm shift for medically assisted reproduction
Verpoest, Willem, Okutman, Özlem, Van Der Kelen, Annelore, Sermon, Karen, Viville, Stéphane
Published in Human reproduction (Oxford) (04.12.2023)
Published in Human reproduction (Oxford) (04.12.2023)
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An ESHG–ESHRE survey on the current practice of expanded carrier screening in medically assisted reproduction
Capalbo, Antonio, de Wert, Guido, Henneman, Lidewij, Kakourou, Georgia, Mcheik, Saria, Peterlin, Borut, van El, Carla, Vassena, Rita, Vermeulen, Nathalie, Viville, Stéphane, Forzano, Francesca
Published in Human reproduction (Oxford) (01.08.2024)
Published in Human reproduction (Oxford) (01.08.2024)
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Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome
Sellier, Chantal, Buijsen, Ronald A.M., He, Fang, Natla, Sam, Jung, Laura, Tropel, Philippe, Gaucherot, Angeline, Jacobs, Hugues, Meziane, Hamid, Vincent, Alexandre, Champy, Marie-France, Sorg, Tania, Pavlovic, Guillaume, Wattenhofer-Donze, Marie, Birling, Marie-Christine, Oulad-Abdelghani, Mustapha, Eberling, Pascal, Ruffenach, Frank, Joint, Mathilde, Anheim, Mathieu, Martinez-Cerdeno, Veronica, Tassone, Flora, Willemsen, Rob, Hukema, Renate K., Viville, Stéphane, Martinat, Cecile, Todd, Peter K., Charlet-Berguerand, Nicolas
Published in Neuron (Cambridge, Mass.) (18.01.2017)
Published in Neuron (Cambridge, Mass.) (18.01.2017)
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Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family
Okutman, Ozlem, Muller, Jean, Baert, Yoni, Serdarogullari, Munevver, Gultomruk, Meral, Piton, Amélie, Rombaut, Charlotte, Benkhalifa, Moncef, Teletin, Marius, Skory, Valerie, Bakircioglu, Emre, Goossens, Ellen, Bahceci, Mustafa, Viville, Stéphane
Published in Human molecular genetics (01.10.2015)
Published in Human molecular genetics (01.10.2015)
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Toxoplasma gondii ROP16 kinase silences the cyclin B1 gene promoter by hijacking host cell UHRF1-dependent epigenetic pathways
Sabou, Marcela, Doderer-Lang, Cécile, Leyer, Caroline, Konjic, Ana, Kubina, Sophie, Lennon, Sarah, Rohr, Olivier, Viville, Stéphane, Cianférani, Sarah, Candolfi, Ermanno, Pfaff, Alexander W., Brunet, Julie
Published in Cellular and molecular life sciences : CMLS (01.06.2020)
Published in Cellular and molecular life sciences : CMLS (01.06.2020)
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TRIM28 repression of retrotransposon-based enhancers is necessary to preserve transcriptional dynamics in embryonic stem cells
Rowe, Helen M, Kapopoulou, Adamandia, Corsinotti, Andrea, Fasching, Liana, Macfarlan, Todd S, Tarabay, Yara, Viville, Stéphane, Jakobsson, Johan, Pfaff, Samuel L, Trono, Didier
Published in Genome research (01.03.2013)
Published in Genome research (01.03.2013)
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Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility
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, McEleny, Kevin, Friedrich, Corinna, van der Heijden, Godfried, Wyrwoll, Margot J., Kliesch, Sabine, Veltman, Joris A., Krausz, Csilla, Viville, Stéphane, Conrad, Donald F., O’Carroll, Dónal, Tüttelmann, Frank
Published in Nature communications (09.08.2024)
Published in Nature communications (09.08.2024)
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Red blood cell generation from human induced pluripotent stem cells: perspectives for transfusion medicine
LAPILLONNE, Hélène, KOBARI, Ladan, FRANCINA, Alain, ANDREU, Georges, VIVILLE, Stéphane, DOUAY, Luc, MAZURIER, Christelle, TROPEL, Philippe, GIARRATANA, Marie-Catherine, ZANELLA-CLEON, Isabelle, KIGER, Laurent, WATTENHOFER-DONZE, Marie, PUCCIO, Hélène, HEBERT, Nicolas
Published in Haematologica (Roma) (01.10.2010)
Published in Haematologica (Roma) (01.10.2010)
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A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation
Harbuz, Radu, Zouari, Raoudha, Pierre, Virginie, Ben Khelifa, Mariem, Kharouf, Mahmoud, Coutton, Charles, Merdassi, Ghaya, Abada, Farid, Escoffier, Jessica, Nikas, Yorgos, Vialard, François, Koscinski, Isabelle, Triki, Chema, Sermondade, Nathalie, Schweitzer, Thérèse, Zhioua, Amel, Zhioua, Fethi, Latrous, Habib, Halouani, Lazhar, Ouafi, Marrakchi, Makni, Mounir, Jouk, Pierre-Simon, Sèle, Bernard, Hennebicq, Sylviane, Satre, Véronique, Viville, Stéphane, Arnoult, Christophe, Lunardi, Joël, Ray, Pierre F.
Published in American journal of human genetics (11.03.2011)
Published in American journal of human genetics (11.03.2011)
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Genetic evaluation of patients with non-syndromic male infertility
Okutman, Ozlem, Rhouma, Maroua Ben, Benkhalifa, Moncef, Muller, Jean, Viville, Stéphane
Published in Journal of assisted reproduction and genetics (01.11.2018)
Published in Journal of assisted reproduction and genetics (01.11.2018)
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A systematic review and evidence assessment of monogenic gene-disease relationships in human female infertility and differences in sex development
Van Der Kelen, Annelore, Okutman, Özlem, Javey, Elodie, Serdarogullari, Münevver, Janssens, Charlotte, Ghosh, Manjusha S, Dequeker, Bart J H, Perold, Florence, Kastner, Claire, Kieffer, Emmanuelle, Segers, Ingrid, Gheldof, Alexander, Hes, Frederik J, Sermon, Karen, Verpoest, Willem, Viville, Stéphane
Published in Human reproduction update (01.03.2023)
Published in Human reproduction update (01.03.2023)
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Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia
Hick, Aurore, Wattenhofer-Donzé, Marie, Chintawar, Satyan, Tropel, Philippe, Simard, Jodie P, Vaucamps, Nadège, Gall, David, Lambot, Laurie, André, Cécile, Reutenauer, Laurence, Rai, Myriam, Teletin, Marius, Messaddeq, Nadia, Schiffmann, Serge N, Viville, Stéphane, Pearson, Christopher E, Pandolfo, Massimo, Puccio, Hélène
Published in Disease models & mechanisms (01.05.2013)
Published in Disease models & mechanisms (01.05.2013)
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DPY19L2 Deletion as a Major Cause of Globozoospermia
Koscinski, Isabelle, ElInati, Elias, Fossard, Camille, Redin, Claire, Muller, Jean, Velez de la Calle, Juan, Schmitt, Françoise, Ben Khelifa, Mariem, Ray, Pierre, Kilani, Zaid, Barratt, Christopher L.R., Viville, Stéphane
Published in American journal of human genetics (11.03.2011)
Published in American journal of human genetics (11.03.2011)
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A new mutation identified in SPATA16 in two globozoospermic patients
ElInati, Elias, Fossard, Camille, Okutman, Ozlem, Ghédir, Houda, Ibala-Romdhane, Samira, Ray, Pierre F., Saad, Ali, Hennebicq, Sylvianne, Viville, Stéphane
Published in Journal of assisted reproduction and genetics (01.06.2016)
Published in Journal of assisted reproduction and genetics (01.06.2016)
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Identification of a new DPY19L2 mutation and a better definition of DPY19L2 deletion breakpoints leading to globozoospermia
Ghédir, Houda, Ibala-Romdhane, Samira, Okutman, Ozlem, Viot, Géraldine, Saad, Ali, Viville, Stéphane
Published in Molecular human reproduction (01.01.2016)
Published in Molecular human reproduction (01.01.2016)
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Results and perinatal outcomes from 189 ICSI cycles of couples with asthenozoospermic men and flagellar defects assessed by transmission electron microscopy
Boursier, Angèle, Boudry, Augustin, Mitchell, Valérie, Loyens, Anne, Rives, Nathalie, Moerman, Alexandre, Thomas, Lucie, Escudier, Estelle, Toure, Aminata, Whitfield, Marjorie, Coutton, Charles, Martinez, Guillaume, Ray, Pierre F, Kherraf, Zine-Eddine, Viville, Stéphane, Legendre, Marie, Smol, Thomas, Robin, Geoffroy, Barbotin, Anne-Laure
Published in Reproductive biomedicine online (01.11.2023)
Published in Reproductive biomedicine online (01.11.2023)
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Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots
ELLNATI, Elias, KUENTZ, Paul, LOUANJLI, Noureddine, IQBAL, Naeem, BISHARAH, Mazen, CARRE PIGEON, Frédérique, GOURABI, H, DE BRIEL, Dominique, BRUGNON, Florence, GITLIN, Susan A, GRILLO, Jean-Marc, GHAEDI, Kamran, REDIN, Claire, DEEMEH, Mohammad R, TANHAEI, Somayeh, MODARRES, Parastoo, HEINDRYCKX, Björn, BENKHALIFA, Moncef, NIKIFORAKI, Dimitra, OEHNINGER, Sergio C, DE SUTTER, Petra, MULLER, Jean, VIVILLE, Stephane, JABER, Sara, MEERSCHAUT, Frauke Vanden, MAKARIAN, Joelle, KOSCINSKI, Isabelle, NASR-ESFAHANI, Mohammad H, DEMIROL, Aygul, GURGAN, Timur
Published in Human molecular genetics (15.08.2012)
Published in Human molecular genetics (15.08.2012)
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CpG Island Methylation Correlates with the Use of Alternative Promoters for USP44 Gene Expression in Human Pluripotent Stem Cells and Testes
Tropel, Philippe, Jung, Laura, André, Cécile, Ndandougou, Adeline, Viville, Stéphane
Published in Stem cells and development (01.08.2017)
Published in Stem cells and development (01.08.2017)
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