Zobrazeno 1 - 8
of 8
pro vyhledávání: '"L E L M Vissers"'
Autor:
M. S. Oud, R. M. Smits, H. E. Smith, F. K. Mastrorosa, G. S. Holt, B. J. Houston, P. F. de Vries, B. K. S. Alobaidi, L. E. Batty, H. Ismail, J. Greenwood, H. Sheth, A. Mikulasova, G. D. N. Astuti, C. Gilissen, K. McEleny, H. Turner, J. Coxhead, S. Cockell, D. D. M. Braat, K. Fleischer, K. W. M. D’Hauwers, E. Schaafsma, Genetics of Male Infertility Initiative (GEMINI) consortium, L. Nagirnaja, D. F. Conrad, C. Friedrich, S. Kliesch, K. I. Aston, A. Riera-Escamilla, C. Krausz, C. Gonzaga-Jauregui, M. Santibanez-Koref, D. J. Elliott, L. E. L. M. Vissers, F. Tüttelmann, M. K. O’Bryan, L. Ramos, M. J. Xavier, G. W. van der Heijden, J. A. Veltman
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-10 (2022)
Germline de novo mutations can impact individual fitness, but their role in human male infertility is understudied. Trio-based exome sequencing identifies many new candidate genes affecting male fertility, including an essential regulator of male ger
Externí odkaz:
https://doaj.org/article/da39d7bc3438462b91547e5622b3b7e7
Autor:
R M Smits, M J Xavier, M S Oud, G D N Astuti, A M Meijerink, P F de Vries, G S Holt, B K S Alobaidi, L E Batty, G Khazeeva, K Sablauskas, L E L M Vissers, C Gilissen, K Fleischer, D D M Braat, L Ramos, J A Veltman
Publikováno v:
Human Reproduction, 37, 1360-1369
Human Reproduction, 37, 6, pp. 1360-1369
Human Reproduction, 37, 6, pp. 1360-1369
STUDY QUESTION Are there more de novo mutations (DNMs) present in the genomes of children born through medical assisted reproduction (MAR) compared to spontaneously conceived children? SUMMARY ANSWER In this pilot study, no statistically significant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::977773ec9e1add12198bd6e9bad82ac3
https://pubmed.ncbi.nlm.nih.gov/35413117
https://pubmed.ncbi.nlm.nih.gov/35413117
Autor:
P de Vries, E Schaafsma, L. E. L. M. Vissers, Simon Cockell, Mauro Santibanez-Koref, Christian Gilissen, Miguel J. Xavier, Sabine Kliesch, Harsh Sheth, G S Holt, Frank Tüttelmann, Gdn Astuti, Jonathan Coxhead, Moira K O'Bryan, GW van der Heijden, Corinna Friedrich, Helen Turner, Brendan J Houston, Kathrin Fleischer, Antoni Riera-Escamilla, Joris A. Veltman, Kenneth I. Aston, Aneta Mikulasova, H Ismail, David J. Elliott, L. Ramos, Kevin McEleny, HE Smith, Liina Nagirnaja, Csilla Krausz, J Greenwood, Roos M. Smits, Francesco K. Mastrorosa, Bks Alobaidi, Claudia Gonzaga-Jauregui, LE Batty, Kwm D’Hauwers, D.D.M. Braat, Donald F. Conrad, Oud
IntroductionDe novo mutations (DNMs) are known to play a prominent role in sporadic disorders with reduced fitness1. We hypothesize that DNMs play an important role in male infertility and explain a significant fraction of the genetic causes of this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b25224d79980a7a76f4c1d8e08942fba
https://doi.org/10.1101/2021.02.27.433155
https://doi.org/10.1101/2021.02.27.433155
Autor:
Svatava Kubickova, Franco Laccone, Svetlana Galkina, B.S. Dwarkanath, David J. Penman, Andréia B Poletto, Wentao Li, Stefania Gimelli, L.A. Kifayathullah, V. Mathur, J. C. Mota-Velasco, Ashraf U. Mannan, Seung-Young Yu, D.J. Driscoll, J. Vahala, Thomas D. Kocher, Irani A. Ferreira, M. Ganapathi, Jiri Rubes, O. Kopecna, L. Molteni, J.P. Arunachalam, Richard P. M. A. Crooijmans, Joris A. Veltman, Cesar Martins, Svetlana Deryusheva, Anna Zlotina, Druck Reinhardt Druck Basel, L. E. L. M. Vissers, Martien A. M. Groenen, Alla Krasikova, L. De Lorenzi, Roel A. Ophoff, Pietro Parma, Petra Musilova, Vani Brahmachari, A.M. Khalil, Halina Cernohorska, Elena Gaginskaya, H.Y. Agbemenyah, P.N. Rao, P.K. Kennady, Miroslav Hornak, Chiranjeevi Bodda, Satz Mengensatzproduktion, Gopal Pande, F. Béna, W.D. Graf, M. Zannotti, G. Mendiratta
Publikováno v:
Cytogenetic and Genome Research. 129:I-IV
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ca5270069c3421e8629ea73cc8f09c43
https://doi.org/10.1159/000318895
https://doi.org/10.1159/000318895
Publikováno v:
Cytogenetic and Genome Research. 129:275-279
The chromosomal band 17q21.31, containing the microtubule-associated protein tau (MAPT) gene, is a hotspot for chromosomal rearrangements. It is known to contain a common inversion polymorphism of approximately 900 kb in populations with European anc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::72de91693511b5fc1cf68c31a6906be0
https://doi.org/10.1159/000315901
https://doi.org/10.1159/000315901
Autor:
S, Jansen, T, Kleefstra, M H, Willemsen, P, de Vries, R, Pfundt, J Y, Hehir-Kwa, C, Gilissen, J A, Veltman, B B A, de Vries, L E L M, Vissers
Publikováno v:
Clinical genetics. 90(5)
De novo missense mutations and in-frame coding deletions in the X-linked gene SMC1A (structural maintenance of chromosomes 1A), encoding part of the cohesin complex, are known to cause Cornelia de Lange syndrome in both males and females. For a long
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::67331b3f3808a557114688f2ef2c57ec
https://pubmed.ncbi.nlm.nih.gov/26752331
https://pubmed.ncbi.nlm.nih.gov/26752331
Autor:
MH Willemsen, Jolanda H. Schieving, Janneke P.C. Grutters, Joris A. Veltman, G.J. van der Wilt, L. E. L. M. Vissers, K van Nimwegen
Publikováno v:
Value in Health. 19:A695
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::25672a6b55d31c43df56aff282cdf7b6
https://doi.org/10.1016/j.jval.2016.09.1998
https://doi.org/10.1016/j.jval.2016.09.1998
Autor:
Joris A. Veltman, E. Crawford, Rolph Pfundt, L. E. L. M. Vissers, H. Creswick, V. K. Proud, Pawel Stankiewicz, Svetlana A. Yatsenko, Weimin Bi, B. B. A. De Vries, James R. Lupski, J. L. Zackowski, Carlo Marcelis, A. Geurts van Kessel
Publikováno v:
Human Genetics, 121, 697-709
Human Genetics
Human Genetics, 121, 6, pp. 697-709
Human Genetics
Human Genetics, 121, 6, pp. 697-709
Contains fulltext : 53584.pdf (Publisher’s version ) (Closed access) Recent molecular cytogenetic data have shown that the constitution of complex chromosome rearrangements (CCRs) may be more complicated than previously thought. The complicated nat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a13fdf83bedfd90b285dc279a0d0855
http://hdl.handle.net/2066/53584
http://hdl.handle.net/2066/53584