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Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort.
Cerván-Martín M, Bossini-Castillo L, Rivera-Egea R, Garrido N, Luján S, Romeu G, Santos-Ribeiro S; IVIRMA Group, Lisbon Clinical Group; Castilla JA, Gonzalvo MDC, Clavero A, Vicente FJ, Guzmán-Jiménez A, Burgos M, Barrionuevo FJ, Jiménez R, Sánchez-Curbelo J, López-Rodrigo O, Peraza MF, Pereira-Caetano I, Marques PI, Carvalho F, Barros A, Bassas L, Seixas S, Gonçalves J, Larriba S, Lopes AM, Carmona FD, Palomino-Morales RJ. Cerván-Martín M, et al. Among authors: goncalves j. Andrology. 2021 Jul;9(4):1151-1165. doi: 10.1111/andr.13009. Epub 2021 Apr 20. Andrology. 2021. PMID: 33784440 Free article.
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.
Lopes AM, Aston KI, Thompson E, Carvalho F, Gonçalves J, Huang N, Matthiesen R, Noordam MJ, Quintela I, Ramu A, Seabra C, Wilfert AB, Dai J, Downie JM, Fernandes S, Guo X, Sha J, Amorim A, Barros A, Carracedo A, Hu Z, Hurles ME, Moskovtsev S, Ober C, Paduch DA, Schiffman JD, Schlegel PN, Sousa M, Carrell DT, Conrad DF. Lopes AM, et al. Among authors: goncalves j. PLoS Genet. 2013 Mar;9(3):e1003349. doi: 10.1371/journal.pgen.1003349. Epub 2013 Mar 21. PLoS Genet. 2013. PMID: 23555275 Free PMC article.
The mutational spectrum of WT1 in male infertility.
Seabra CM, Quental S, Lima AC, Carvalho F, Gonçalves J, Fernandes S, Pereira I, Silva J, Marques PI, Sousa M, Barros A, Seixas S, Amorim A, Lopes AM. Seabra CM, et al. Among authors: goncalves j. J Urol. 2015 May;193(5):1709-15. doi: 10.1016/j.juro.2014.11.004. Epub 2014 Nov 11. J Urol. 2015. PMID: 25451826
1,665 results