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pro vyhledávání: '"Nagirnaja, L."'
Akademický článek
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Autor:
Acharya, G., Albrecht, C., Benton, S.J., Cotechini, T., Dechend, R., Dilworth, M.R., Duttaroy, A.K., Grotmol, T., Heazell, A.E., Jansson, T., Johnstone, E.D., Jones, H.N., Jones, R.L., Lager, S., Laine, K., Nagirnaja, L., Nystad, M., Powell, T., Redman, C., Sadovsky, Y., Sibley, C., Troisi, R., Wadsack, C., Westwood, M., Lash, G.E.
Publikováno v:
In Placenta February 2012 33 Supplement:S4-S8
Autor:
Oud, M.S., Smits, R.M., Smith, H.E., Mastrorosa, F.K., Holt, G.S., Houston, B.J., de Vries, P.F., Alobaidi, B.K.S., Batty, L.E., Ismail, H., Greenwood, J., Sheth, H., Mikulasova, A., Astuti, G.D.N., Gilissen, C., McEleny, K., Turner, H., Coxhead, J., Cockell, S., Braat, D.D.M., Fleischer, K., D’Hauwers, K.W.M., Schaafsma, E., Conrad, Donald F., Nagirnaja, Liina, Aston, Kenneth I., Carrell, Douglas T., Hotaling, James M., Jenkins, Timothy G., McLachlan, Rob, O’Bryan, Moira K., Schlegel, Peter N., Eisenberg, Michael L., Sandlow, Jay I., Jungheim, Emily S., Omurtag, Kenan R., Lopes, Alexandra M., Seixas, Susana, Carvalho, Filipa, Fernandes, Susana, Barros, Alberto, Gonçalves, João, Caetano, Iris, Pinto, Graça, Correia, Sónia, Laan, Maris, Punab, Margus, Meyts, Ewa Rajpert-De, Jørgensen, Niels, Almstrup, Kristian, Krausz, Csilla G., Jarvi, Keith A., Nagirnaja, L., Conrad, D.F., Friedrich, C., Kliesch, S., Aston, K.I., Riera-Escamilla, A., Krausz, C., Gonzaga-Jauregui, C., Santibanez-Koref, M., Elliott, D. J., Vissers, L.E.L.M., Tüttelmann, F., O’Bryan, M.K., Ramos, L., Xavier, M.J., van der Heijden, G.W., Veltman, J.A.
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Nature Communications, 13
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Nature Communications
Nature Communications, Vol 13, Iss 1, Pp 1-10 (2022)
Nature Communications, 13, 1
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Nature Communications, 13
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Nature Communications
Nature Communications, Vol 13, Iss 1, Pp 1-10 (2022)
Nature Communications, 13, 1
De novo mutations are known to play a prominent role in sporadic disorders with reduced fitness. We hypothesize that de novo mutations play an important role in severe male infertility and explain a portion of the genetic causes of this understudied
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db7e1b24767adef20029e3a8aa6e2042
Autor:
Wyrwoll, MJ, Gaasbeek, CM, Golubickaite, I, Stakaitis, R, Oud, MS, Nagirnaja, L, Dion, C, Sindi, EB, Leitch, HG, Jayasena, CN, Sironen, A, Dicke, A-K, Rotte, N, Stallmeyer, B, Kliesch, S, Grangeiro, CHP, Araujo, TF, Lasko, P, Genetics of Male Infertility Initiative (GEMINI) consortium, D'Hauwers, K, Smits, RM, Ramos, L, Xavier, MJ, Conrad, DF, Almstrup, K, Veltman, JA, Tüttelmann, F, Van der Heijden, GW
Publikováno v:
Wyrwoll, M J, Gaasbeek, C M, Golubickaite, I, Stakaitis, R, Oud, M S, Nagirnaja, L, Dion, C, Sindi, E B, Leitch, H G, Jayasena, C N, Sironen, A, Dicke, A-K, Rotte, N, Stallmeyer, B, Kliesch, S, Grangeiro, C H P, Araujo, T F, Lasko, P, D'Hauwers, K, Smits, R M, Ramos, L, Xavier, M J, Conrad, D F, Almstrup, K, Veltman, J A, Tüttelmann, F, van der Heijden, G W & Genetics of Male Infertility Initiative (GEMINI) consortium 2022, ' The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans ', American Journal of Human Genetics, vol. 109, no. 10, pp. 1850-1866 . https://doi.org/10.1016/j.ajhg.2022.09.002
American Journal of Human Genetics, 109, 10, pp. 1850-1866
American Journal of Human Genetics, 109, 1850-1866
American Journal of Human Genetics, 109, 10, pp. 1850-1866
American Journal of Human Genetics, 109, 1850-1866
Contains fulltext : 282942.pdf (Publisher’s version ) (Open Access) Infertility affects around 7% of the male population and can be due to severe spermatogenic failure (SPGF), resulting in no or very few sperm in the ejaculate. We initially identif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::651bdd0e39b0065428325e62a6a8c971
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/282942
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/282942
Autor:
Houston, BJ, Riera-Escamilla, A, Wyrwoll, MJ, Salas-Huetos, A, Xavier, MJ, Nagirnaja, L, Friedrich, C, Conrad, DF, Aston, KI, Krausz, C, Tuttelmann, F, O'Bryan, MK, Veltman, JA, Oud, MS
Publikováno v:
HUMAN REPRODUCTION UPDATE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
BACKGROUND: Human male infertility has a notable genetic component, including well-established diagnoses such as Klinefelter syndrome, Y-chromosome microdeletions and monogenic causes. Approximately 4% of all infertile men are now diagnosed with a ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::7dd2d6af768fb35148a10f9dbfa4ae3a
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=7702
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=7702
Akademický článek
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Akademický článek
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Autor:
Hardy, JJ, Wyrwoll, MJ, Mcfadden, W, Malcher, A, Rotte, N, Pollock, NC, Munyoki, S, Veroli, MV, Houston, BJ, Xavier, MJ, Kasak, L, Punab, M, Laan, M, Kliesch, S, Schlegel, P, Jaffe, T, Hwang, K, Vukina, J, Brieno-Enriquez, MA, Orwig, K, Yanowitz, J, Buszczak, M, Veltman, JA, Oud, M, Nagirnaja, L, Olszewska, M, O'Bryan, MK, Conrad, DF, Kurpisz, M, Tuttelmann, F, Yatsenko, AN, Krausz C.G., GEMINI Consortium
Publikováno v:
HUMAN GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Instituto de Salud Carlos III (ISCIII)
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Instituto de Salud Carlos III (ISCIII)
Male infertility impacts millions of couples yet, the etiology of primary infertility remains largely unknown. A critical element of successful spermatogenesis is maintenance of genome integrity. Here, we present a genomic study of spermatogenic fail
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::cc2d66cd1c29200ee21563e9d8377f49
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=4741
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=4741
Akademický článek
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Autor:
Friedrich, C., Temel, S.G., Nagirnaja, L., Oud, M.S., Lopes, A.M., van der Heijden, G.W., Heald, J., Rotte, N., Wistuba, J., Wöste, M., Ledig, S., Krenz, H., Smits, R.M., Carvalho, F., Gonçalves, João, Fietz, D., Türkgenç, B., Ergören, M.C., Çetinkaya, M., Başar, M., Kahraman, S., McEleny, K., Xavier, M.J., Turner, H., Pilatz, A., Röpke, A., Dugas, M., Kliesch, S., Neuhaus, N., GEMINI Consortium, Aston, K.I., Conrad, D.F., Veltman, J.A., Wyrwoll, M.J., Tüttelmann, F.
Male infertility affects ~7% of men, but its causes remain poorly understood. The most severe form is non-obstructive azoospermia (NOA), which is, in part, caused by an arrest at meiosis, but so far only few validated causal genes have been reported.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::acf431ca36314bc879f9c14b882533ab
https://hdl.handle.net/10400.18/7444
https://hdl.handle.net/10400.18/7444