المؤلفون: 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.

مصطلحات موضوعية: Male Infertility, Infertile Man, Spermatogenesis, Genética Humana, Doenças Genéticas

العلاقة: info:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB%2F00009%2F2020/PT; info:eu-repo/grantAgreement/WT/Genetics, Genomics and Population Research/209451; https://www.nature.com/articles/s41467-021-27132-8Test; Nat Commun. 2022 Jan 10;13(1):154. doi:10.1038/s41467-021-27132-8; http://hdl.handle.net/10400.18/8497Test

الإتاحة: https://doi.org/10.1038/s41467-021-27132-8Test
http://hdl.handle.net/10400.18/8497Test

المؤلفون: 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.

المساهمون: Repositório Científico do Instituto Nacional de Saúde

مصطلحات موضوعية: Azoospermia, M1AP, Male Infertility, Doenças Genéticas

وصف الملف: application/pdf

العلاقة: Eur J Hum Genet. 2020 Dec;28(Suppl 1):1002-1003.

الإتاحة: http://hdl.handle.net/10400.18/7444Test

المؤلفون: Oud, MS, Smits, RM, Smith, HE, Mastrorosa, FK, Holt, GS, Houston, BJ, de Vries, PF, Alobaidi, BKS, Batty, LE, Ismail, H, Greenwood, J, Sheth, H, Mikulasova, A, Astuti, GDN, Gilissen, C, McEleny, K, Turner, H, Coxhead, J, Cockell, S, Braat, DDM, Fleischer, K, D'Hauwers, KWM, Schaafsma, E, Genetics of Male Infertility Initiative (GEMINI) consortium, Nagirnaja, L, Conrad, DF, Friedrich, C, Kliesch, S, Aston, KI, Riera-Escamilla, A, Krausz, C, Gonzaga-Jauregui, C, Santibanez-Koref, M, Elliott, DJ, Vissers, LELM, Tüttelmann, F, O'Bryan, MK, Ramos, L, Xavier, MJ, van der Heijden, GW, Veltman, JA

العلاقة: NHMRC/1120356; pii: 10.1038/s41467-021-27132-8; 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. ,. Veltman, J. A. (2022). A de novo paradigm for male infertility. Nat Commun, 13 (1), pp.154-. https://doi.org/10.1038/s41467-021-27132-8Test.; http://hdl.handle.net/11343/301484Test

الإتاحة: https://doi.org/10.1038/s41467-021-27132-8Test
http://hdl.handle.net/11343/301484Test

المؤلفون: Nagirnaja, L, Lopes, AM, Charng, W-L, Miller, B, Stakaitis, R, Golubickaite, I, Stendahl, A, Luan, T, Friedrich, C, Mahyari, E, Fadial, E, Kasak, L, Vigh-Conrad, K, Oud, MS, Xavier, MJ, Cheers, SR, James, ER, Guo, J, Jenkins, TG, Riera-Escamilla, A, Barros, A, Carvalho, F, Fernandes, S, Goncalves, J, Gurnett, CA, Jorgensen, N, Jezek, D, Jungheim, ES, Kliesch, S, McLachlan, R, Omurtag, KR, Pilatz, A, Sandlow, J, Smith, J, Eisenberg, ML, Hotaling, JM, Jarvi, KA, Punab, M, Rajpert-De Meyts, E, Carrell, DT, Krausz, C, Laan, M, O'Bryan, MK, Schlegel, PN, Tuettelmann, F, Veltman, JA, Almstrup, K, Aston, K, Conrad, DF

العلاقة: NHMRC/1120356; pii: 10.1038/s41467-022-35661-z; Nagirnaja, L., Lopes, A. M., Charng, W. -L., Miller, B., Stakaitis, R., Golubickaite, I., Stendahl, A., Luan, T., Friedrich, C., Mahyari, E., Fadial, E., Kasak, L., Vigh-Conrad, K., Oud, M. S., Xavier, M. J., Cheers, S. R., James, E. R., Guo, J., Jenkins, T. G. ,. Conrad, D. F. (2022). Diverse monogenic subforms of human spermatogenic failure. NATURE COMMUNICATIONS, 13 (1), https://doi.org/10.1038/s41467-022-35661-zTest.; http://hdl.handle.net/11343/327232Test

الإتاحة: https://doi.org/10.1038/s41467-022-35661-zTest
http://hdl.handle.net/11343/327232Test

المؤلفون: 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

المساهمون: National Institute for Health Research

المصدر: 1866 ; 1850

مصطلحات موضوعية: FKBP6, LINE-1, azoospermia, genetics, male infertility, meiosis, oligozoospermia, piRNA-pathway, round spermatid arrest, spermatogenesis, Genetics of Male Infertility Initiative (GEMINI) consortium, Genetics & Heredity, 06 Biological Sciences, 11 Medical and Health Sciences

جغرافية الموضوع: United States

العلاقة: American Journal of Human Genetics; http://hdl.handle.net/10044/1/100063Test; PDF-2017-10-098

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.09.002Test
http://hdl.handle.net/10044/1/100063Test

المؤلفون: 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.

مصطلحات موضوعية: Azoospermia, M1AP, Male Infertility, Doenças Genéticas

العلاقة: https://www.nature.com/articles/s41431-020-00741-5Test; Eur J Hum Genet. 2020 Dec;28(Suppl 1):1002-1003.; http://hdl.handle.net/10400.18/7444Test

الإتاحة: http://hdl.handle.net/10400.18/7444Test

المؤلفون: Houston, BJ, Riera-Escamilla, A, Wyrwoll, MJ, Salas-Huetos, A, Xavier, MJ, Nagirnaja, L, Friedrich, C, Conrad, DF, Aston, K, Krausz, C, Tuttelmann, F, O'Bryan, MK, Veltman, JA, Oud, MS

العلاقة: NHMRC/1120356; pii: 6366465; Houston, B. J., Riera-Escamilla, A., Wyrwoll, M. J., Salas-Huetos, A., Xavier, M. J., Nagirnaja, L., Friedrich, C., Conrad, D. F., Aston, K., Krausz, C., Tuttelmann, F., O'Bryan, M. K., Veltman, J. A. & Oud, M. S. (2021). A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships. HUMAN REPRODUCTION UPDATE, 28 (1), pp.15-29. https://doi.org/10.1093/humupd/dmab030Test.; http://hdl.handle.net/11343/290578Test

الإتاحة: https://doi.org/10.1093/humupd/dmab030Test
http://hdl.handle.net/11343/290578Test

المؤلفون: Oud, M.S., Volozonoka, L., Friedrich, C., Kliesch, S., Nagirnaja, L., Gilissen, C., O’Bryan, M.K., McLachlan, R.I., Aston, K.I., Tüttelmann, F., Conrad, D.F., Veltman, J.A.

المساهمون: National Institutes of Health, Wellcome Trust, National Health and Medical Research Council, Deutsche Forschungsgemeinschaft, Nederlandse Organisatie voor Wetenschappelijk Onderzoek

المصدر: Cell ; volume 184, issue 8, page 1941-1942 ; ISSN 0092-8674

مصطلحات موضوعية: General Biochemistry, Genetics and Molecular Biology

الإتاحة: https://doi.org/10.1016/j.cell.2021.03.001Test
https://api.elsevier.com/content/article/PII:S0092867421002865?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0092867421002865?httpAccept=text/plainTest

المؤلفون: Marques, P. I., Gonçalves, J. C., Monteiro, C., Cavadas, B., Nagirnaja, L., Barros, N., Barros, A., Carvalho, F., Lopes, A. M., Seixas, S.

المساهمون: Eunice Kennedy Shriver National Institute of Child Health and Human Development, European Regional Development Fund

المصدر: Andrology ; volume 7, issue 6, page 867-877 ; ISSN 2047-2919 2047-2927

الإتاحة: https://doi.org/10.1111/andr.12625Test

المؤلفون: Kasak, L, Punab, M, Nagirnaja, L, Grigorova, M, Minajeva, A, Lopes, AM, Punab, AM, Aston, KI, Carvalho, F, Laasik, E, Smith, LB, Conrad, DF, Laan, M

مصطلحات موضوعية: Biological sciences, FANCM, SCOS, Sertoli cell-only syndrome, bi-allelic loss-of-function variants, genetic cause of male infertility

العلاقة: American Journal of Human Genetics; Kasak, L; Punab, M; Nagirnaja, L; Grigorova, M; Minajeva, A; Lopes, AM; Punab, AM; Aston, KI; Carvalho, F; Laasik, E; Smith, LB; Conrad, DF; Laan, M, Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia, American Journal of Human Genetics, 2018, 103 (2), pp. 200-212; http://hdl.handle.net/10072/416902Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2018.07.005Test
http://hdl.handle.net/10072/416902Test