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Variant PNLDC1, Defective piRNA Processing, and Azoospermia.
Nagirnaja L, Mørup N, Nielsen JE, Stakaitis R, Golubickaite I, Oud MS, Winge SB, Carvalho F, Aston KI, Khani F, van der Heijden GW, Marques CJ, Skakkebaek NE, Rajpert-De Meyts E, Schlegel PN, Jørgensen N, Veltman JA, Lopes AM, Conrad DF, Almstrup K. Nagirnaja L, et al. Among authors: carvalho f. N Engl J Med. 2021 Aug 19;385(8):707-719. doi: 10.1056/NEJMoa2028973. Epub 2021 Aug 4. N Engl J Med. 2021. PMID: 34347949 Free PMC article.
Genomic imprinting in disruptive spermatogenesis.
Marques CJ, Carvalho F, Sousa M, Barros A. Marques CJ, et al. Among authors: carvalho f. Lancet. 2004 May 22;363(9422):1700-2. doi: 10.1016/S0140-6736(04)16256-9. Lancet. 2004. PMID: 15158633
Methylation defects of imprinted genes in human testicular spermatozoa.
Marques CJ, Francisco T, Sousa S, Carvalho F, Barros A, Sousa M. Marques CJ, et al. Among authors: carvalho f. Fertil Steril. 2010 Jul;94(2):585-94. doi: 10.1016/j.fertnstert.2009.02.051. Epub 2009 Apr 1. Fertil Steril. 2010. PMID: 19338988 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: carvalho f. 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: carvalho f. 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
Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia.
Kasak L, Punab M, Nagirnaja L, Grigorova M, Minajeva A, Lopes AM, Punab AM, Aston KI, Carvalho F, Laasik E, Smith LB; GEMINI Consortium; Conrad DF, Laan M. Kasak L, et al. Among authors: carvalho f. Am J Hum Genet. 2018 Aug 2;103(2):200-212. doi: 10.1016/j.ajhg.2018.07.005. Am J Hum Genet. 2018. PMID: 30075111 Free PMC article.
2,577 results