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2020 2
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Page 1
Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility.
Cerván-Martín M, Tüttelmann F, Lopes AM, Bossini-Castillo L, Rivera-Egea R, Garrido N, Lujan S, Romeu G, Santos-Ribeiro S, Castilla JA, Carmen Gonzalvo M, Clavero A, Maldonado V, Vicente FJ, González-Muñoz S, Guzmán-Jiménez A, Burgos M, Jiménez R, Pacheco A, González C, Gómez S, Amorós D, Aguilar J, Quintana F, Calhaz-Jorge C, Aguiar A, Nunes J, Sousa S, Pereira I, Pinto MG, Correia S, Sánchez-Curbelo J, López-Rodrigo O, Martín J, Pereira-Caetano I, Marques PI, Carvalho F, Barros A, Gromoll J, Bassas L, Seixas S, Gonçalves J, Larriba S, Kliesch S, Palomino-Morales RJ, Carmona FD. Cerván-Martín M, et al. Among authors: pereira caetano i. Commun Biol. 2022 Nov 10;5(1):1220. doi: 10.1038/s42003-022-04192-0. Commun Biol. 2022. PMID: 36357561 Free PMC article.
Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience.
Kucińska-Chahwan A, Geremek M, Roszkowski T, Bijok J, Massalska D, Ciebiera M, Correia H, Pereira-Caetano I, Barreta A, Obersztyn E, Kutkowska-Kaźmierczak A, Własienko P, Krajewska-Walasek M, Węgrzyn P, Dudarewicz L, Krzeszowski W, Rybak-Krzyszkowska M, Nowakowska B. Kucińska-Chahwan A, et al. Among authors: pereira caetano i. Genes (Basel). 2022 Apr 21;13(5):724. doi: 10.3390/genes13050724. Genes (Basel). 2022. PMID: 35627109 Free PMC article.
Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia.
Guzmán-Jiménez A, González-Muñoz S, Cerván-Martín M, Rivera-Egea R, Garrido N, Luján S, Santos-Ribeiro S, Castilla JA, Gonzalvo MC, Clavero A, Vicente FJ, Maldonado V, Villegas-Salmerón J, Burgos M, Jiménez R, Pinto MG, Pereira I, Nunes J, Sánchez-Curbelo J, López-Rodrigo O, Pereira-Caetano I, Marques PI, Carvalho F, Barros A, Bassas L, Seixas S, Gonçalves J, Lopes AM, Larriba S, Palomino-Morales RJ, Carmona FD, Bossini-Castillo L; IVIRMA Group; Lisbon Clinical Group. Guzmán-Jiménez A, et al. Among authors: pereira caetano i. Front Cell Dev Biol. 2022 Dec 15;10:1089782. doi: 10.3389/fcell.2022.1089782. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 36589743 Free PMC article.
Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome.
Cerván-Martín M, Bossini-Castillo L, Guzmán-Jimenez A, Rivera-Egea R, Garrido N, Luján S, Romeu G, Santos-Ribeiro S, Ivirma Group, Lisbon Clinical Group, Castilla JA, Gonzalvo MC, Clavero A, Vicente FJ, Maldonado V, González-Muñoz S, Rodríguez-Martín I, Burgos M, Jiménez R, Pinto MG, Pereira I, Nunes J, Sánchez-Curbelo J, López-Rodrigo O, 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: pereira caetano i. J Pers Med. 2022 Jun 4;12(6):932. doi: 10.3390/jpm12060932. J Pers Med. 2022. PMID: 35743717 Free PMC article.
Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment.
Cerván-Martín M, Suazo-Sánchez MI, Rivera-Egea R, Garrido N, Luján S, Romeu G, Santos-Ribeiro S, Castilla JA, Gonzalvo MC, Clavero A, Vicente FJ, Maldonado V, 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, Palomino-Morales RJ, Carmona FD; Lisbon Clinical Group; IVIRMA Group. Cerván-Martín M, et al. Among authors: pereira caetano i. Fertil Steril. 2020 Aug;114(2):398-406. doi: 10.1016/j.fertnstert.2020.02.115. Epub 2020 Jul 18. Fertil Steril. 2020. PMID: 32690270 Free article.
Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility.
Cerván-Martín M, Bossini-Castillo L, Guzmán-Jiménez A, Rivera-Egea R, Garrido N, Lujan S, Romeu G, Santos-Ribeiro S; IVIRMA Group; Lisbon Clinical Group; Castilla JA, Gonzalvo MDC, Clavero A, Maldonado V, Vicente FJ, Burgos M, Jiménez R, González-Muñoz S, Sánchez-Curbelo J, López-Rodrigo O, Pereira-Caetano I, Marques PI, Carvalho F, Barros A, Bassas L, Seixas S, Gonçalves J, Larriba S, Lopes AM, Palomino-Morales RJ, Carmona FD. Cerván-Martín M, et al. Among authors: pereira caetano i. Andrology. 2022 Oct;10(7):1339-1350. doi: 10.1111/andr.13221. Epub 2022 Jul 8. Andrology. 2022. PMID: 35752927 Free PMC article.
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: pereira caetano i. Andrology. 2021 Jul;9(4):1151-1165. doi: 10.1111/andr.13009. Epub 2021 Apr 20. Andrology. 2021. PMID: 33784440 Free article.
Evaluation of Male Fertility-Associated Loci in a European Population of Patients with Severe Spermatogenic Impairment.
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 MC, Clavero A, Vicente FJ, Guzmán-Jiménez A, Costa C, Llinares-Burguet I, Khantham C, 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, Palomino-Morales RJ, Carmona FD. Cerván-Martín M, et al. Among authors: pereira caetano i. J Pers Med. 2020 Dec 29;11(1):22. doi: 10.3390/jpm11010022. J Pers Med. 2020. PMID: 33383876 Free PMC article.