Hypogonadotropic hypogonadism in men with hereditary hemochromatosis

Autor El Osta, Rabih, Grandpre, Nicolas, Monnin, Nicolas, Hubert, Jacques, Koscinski, Isabelle
Vydáno v Basic Clin Androl (2017)

Ovarian Telomerase and Female Fertility

Autor Toupance, Simon, Fattet, Anne-Julie, Thornton, Simon N., Benetos, Athanase, Guéant, Jean-Louis, Koscinski, Isabelle
Vydáno v Biomedicines (2021)

Telomere length in granulosa cells and leukocytes: a potential marker of female fertility? A systematic review of the literature

Autor Fattet, Anne-Julie, Toupance, Simon, Thornton, Simon N., Monnin, Nicolas, Guéant, Jean-Louis, Benetos, Athanase, Koscinski, Isabelle
Vydáno v J Ovarian Res (2020)

Reproduction Function in Male Patients With Bardet Biedl Syndrome

Autor Koscinski, Isabelle, Mark, Manuel, Messaddeq, Nadia, Braun, Jean Jacques, Celebi, Catherine, Muller, Jean, Zinetti-Bertschy, Anna, Goetz, Nathalie, Dollfus, Hélène, Rossignol, Sylvie
Vydáno v J Clin Endocrinol Metab (2020)

Improving preimplantation genetic diagnosis for Fragile X syndrome: two new powerful single-round multiplex indirect and direct tests

Autor Kieffer, Emmanuelle, Nicod, Jean-Christophe, Gardes, Nathalie, Kastner, Claire, Becker, Nicolas, Celebi, Catherine, Pirrello, Olivier, Rongières, Catherine, Koscinski, Isabelle, Gosset, Philippe, Moutou, Céline
Vydáno v Eur J Hum Genet (2016)

Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia

Autor Dam, Anika H. D. M. , Koscinski, Isabelle , Kremer, Jan A. M. , Moutou, Céline , Jaeger, Anne-Sophie , Oudakker, Astrid R. , Tournaye, Herman , Charlet, Nicolas , Lagier-Tourenne, Clotilde , van Bokhoven, Hans , Viville, Stéphane 
Vydáno 2007

DPY19L2 Deletion as a Major Cause of Globozoospermia

Autor 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
Vydáno 2011

DPY19L2 Deletion as a Major Cause of Globozoospermia

Autor Koscinski, Isabelle, ElInati, Elias, Fossard, Camille, Redin, Claire, Muller, Jean, Velez de la Calle, Juan, Schmitt, Françoise, Ben Khelifa, Mariem, Ray, Pierre F., Kilani, Zaid, Barratt, Christopher L.R., Viville, Stéphane
Vydáno 2011

A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation

Autor 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.
Vydáno 2011

A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

Autor Guéant, Jean-Louis, Chéry, Céline, Oussalah, Abderrahim, Nadaf, Javad, Coelho, David, Josse, Thomas, Flayac, Justine, Robert, Aurélie, Koscinski, Isabelle, Gastin, Isabelle, Filhine-Tresarrieu, Pierre, Pupavac, Mihaela, Brebner, Alison, Watkins, David, Pastinen, Tomi, Montpetit, Alexandre, Hariri, Fadi, Tregouët, David, Raby, Benjamin A, Chung, Wendy K., Morange, Pierre-Emmanuel, Froese, D. Sean, Baumgartner, Matthias R., Benoist, Jean-François, Ficicioglu, Can, Marchand, Virginie, Motorin, Yuri, Bonnemains, Chrystèle, Feillet, François, Majewski, Jacek, Rosenblatt, David S.
Vydáno v Nat Commun (2018)

Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

Autor Guéant, Jean-Louis, Chéry, Céline, Oussalah, Abderrahim, Nadaf, Javad, Coelho, David, Josse, Thomas, Flayac, Justine, Robert, Aurélie, Koscinski, Isabelle, Gastin, Isabelle, Filhine-Tresarrieu, Pierre, Pupavac, Mihaela, Brebner, Alison, Watkins, David, Pastinen, Tomi, Montpetit, Alexandre, Hariri, Fadi, Tregouët, David, Raby, Benjamin A, Chung, Wendy K., Morange, Pierre-Emmanuel, Froese, D. Sean, Baumgartner, Matthias R., Benoist, Jean-François, Ficicioglu, Can, Marchand, Virginie, Motorin, Yuri, Bonnemains, Chrystèle, Feillet, François, Majewski, Jacek, Rosenblatt, David S.
Vydáno v Nat Commun (2018)