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Genetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort.
Carriço JN, Gonçalves CI, Al-Naama A, Syed N, Aragüés JM, Bastos M, Fonseca F, Borges T, Pereira BD, Pignatelli D, Carvalho D, Cunha F, Saavedra A, Rodrigues E, Saraiva J, Ruas L, Vicente N, Martin Martins J, De Sousa Lages A, Oliveira MJ, Castro-Correia C, Melo M, Martins RG, Couto J, Moreno C, Martins D, Oliveira P, Martins T, Martins SA, Marques O, Meireles C, Garrão A, Nogueira C, Baptista C, Gama-de-Sousa S, Amaral C, Martinho M, Limbert C, Barros L, Vieira IH, Sabino T, Saraiva LR, Lemos MC. Carriço JN, et al. Among authors: fonseca f. Hum Reprod Open. 2024 Sep 11;2024(3):hoae053. doi: 10.1093/hropen/hoae053. eCollection 2024. Hum Reprod Open. 2024. PMID: 39308770 Free PMC article.
High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism.
Gonçalves CI, Patriarca FM, Aragüés JM, Carvalho D, Fonseca F, Martins S, Marques O, Pereira BD, Martinez-de-Oliveira J, Lemos MC. Gonçalves CI, et al. Among authors: fonseca f. Sci Rep. 2019 Feb 7;9(1):1597. doi: 10.1038/s41598-018-38178-y. Sci Rep. 2019. PMID: 30733481 Free PMC article.
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.
Gonçalves C, Bastos M, Pignatelli D, Borges T, Aragüés JM, Fonseca F, Pereira BD, Socorro S, Lemos MC. Gonçalves C, et al. Among authors: fonseca f. Fertil Steril. 2015 Nov;104(5):1261-7.e1. doi: 10.1016/j.fertnstert.2015.07.1142. Epub 2015 Aug 12. Fertil Steril. 2015. PMID: 26277103 Free article.
PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency.
Lemos MC, Gomes L, Bastos M, Leite V, Limbert E, Carvalho D, Bacelar C, Monteiro M, Fonseca F, Agapito A, Castro JJ, Regateiro FJ, Carvalheiro M. Lemos MC, et al. Among authors: fonseca f. Clin Endocrinol (Oxf). 2006 Oct;65(4):479-85. doi: 10.1111/j.1365-2265.2006.02617.x. Clin Endocrinol (Oxf). 2006. PMID: 16984240
[Myxedema coma].
Fonseca F, Cortez L, Guerra L, Afonso A, Agapito A, Malheiro F, da Costa C. Fonseca F, et al. Acta Med Port. 1992 Dec;5(11):613-5. Acta Med Port. 1992. PMID: 1293958 Free article. Portuguese.
1,630 results