Lofrano-Porto A - Search Results

1

Thyroxine-binding globulin deficiency due to a novel SERPINA7 mutation: Clinical characterization, analysis of X-chromosome inactivation pattern and protein structural modeling.

Gomes-Lima CJ, Maciel AAFL, Andrade MO, Cunha VSD, Mazzeu JF, Bleicher L, Neves FAR, Lofrano-Porto A. Gomes-Lima CJ, et al. Gene. 2018 Aug 5;666:58-63. doi: 10.1016/j.gene.2018.05.018. Epub 2018 May 4. Gene. 2018. PMID: 29733970

2

What determines mortality in malignant pheochromocytoma? - Report of a case with eighteen-year survival and review of the literature.

Andrade MO, Cunha VSD, Oliveira DC, Moraes OL, Lofrano-Porto A. Andrade MO, et al. Arch Endocrinol Metab. 2018 Mar-Apr;62(2):264-269. doi: 10.20945/2359-3997000000033. Arch Endocrinol Metab. 2018. PMID: 29768630 Free PMC article. Review.

3

Luteinizing hormone beta mutation and hypogonadism in men and women.

Lofrano-Porto A, Barra GB, Giacomini LA, Nascimento PP, Latronico AC, Casulari LA, da Rocha Neves Fde A. Lofrano-Porto A, et al. N Engl J Med. 2007 Aug 30;357(9):897-904. doi: 10.1056/NEJMoa071999. N Engl J Med. 2007. PMID: 17761593 Free article.

4

Trp28Arg/Ile35Thr LHB gene variants are associated with elevated testosterone levels in women with polycystic ovary syndrome.

Batista MC, Duarte Ede F, Borba MD, Zingler E, Mangussi-Gomes J, dos Santos BT, de Moraes OL, Hayashida SA, Baracat EC, da Rocha Neves Fde A, Maciel GA, Bachega TA, Barra GB, Lofrano-Porto A. Batista MC, et al. Gene. 2014 Oct 15;550(1):68-73. doi: 10.1016/j.gene.2014.08.017. Epub 2014 Aug 8. Gene. 2014. PMID: 25111116

5

3β-hydroxysteroid dehydrogenase type II deficiency on newborn screening test.

Araújo VG, Oliveira RS, Gameleira KP, Cruz CB, Lofrano-Porto A. Araújo VG, et al. Arq Bras Endocrinol Metabol. 2014 Aug;58(6):650-5. doi: 10.1590/0004-2730000003098. Arq Bras Endocrinol Metabol. 2014. PMID: 25211449

6

Insights on the phenotypic heterogenity of 11β-hydroxylase deficiency: clinical and genetic studies in two novel families.

Valadares LP, Pfeilsticker ACV, de Brito Sousa SM, Cardoso SC, de Moraes OL, Gonçalves de Castro LC, de Oliveira RS, Lofrano-Porto A. Valadares LP, et al. Endocrine. 2018 Nov;62(2):326-332. doi: 10.1007/s12020-018-1691-4. Epub 2018 Sep 21. Endocrine. 2018. PMID: 30242600 Review.

7

Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene.

Lofrano-Porto A, Barra GB, Nascimento PP, Costa PG, Garcia EC, Vaz RF, Batista AR, Freitas AC, Cherulli BL, Bahmad F Jr, Figueiredo LG, Neves FA, Casulari LA. Lofrano-Porto A, et al. Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1296-303. doi: 10.1590/s0004-27302008000800015. Arq Bras Endocrinol Metabol. 2008. PMID: 19169484

8

Mutational analysis of the genes encoding RFamide-related peptide-3, the human orthologue of gonadotrophin-inhibitory hormone, and its receptor (GPR147) in patients with gonadotrophin-releasing hormone-dependent pubertal disorders.

Lima CJ, Cardoso SC, Lemos EF, Zingler E, Capanema C, Menezes LD, Vogado G, Dos Santos BT, de Moraes OL, Duarte EF, de Brito VN, Latronico AC, Lofrano-Porto A. Lima CJ, et al. J Neuroendocrinol. 2014 Nov;26(11):817-24. doi: 10.1111/jne.12207. J Neuroendocrinol. 2014. PMID: 25180599

9

Effects of follicle-stimulating hormone and human chorionic gonadotropin on gonadal steroidogenesis in two siblings with a follicle-stimulating hormone beta subunit mutation.

Lofrano-Porto A, Casulari LA, Nascimento PP, Giacomini L, Naves LA, da Motta LD, Layman LC. Lofrano-Porto A, et al. Fertil Steril. 2008 Oct;90(4):1169-74. doi: 10.1016/j.fertnstert.2007.07.1356. Epub 2007 Oct 24. Fertil Steril. 2008. PMID: 17961559 Free article.

10

Inactivating mutations of luteinizing hormone beta-subunit or luteinizing hormone receptor cause oligo-amenorrhea and infertility in women.

Arnhold IJ, Lofrano-Porto A, Latronico AC. Arnhold IJ, et al. Horm Res. 2009;71(2):75-82. doi: 10.1159/000183895. Epub 2009 Jan 8. Horm Res. 2009. PMID: 19129711 Free article. Review.

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