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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: lemos mc. 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.
Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism.
COST Action BM1105; Badiu C, Bonomi M, Borshchevsky I, Cools M, Craen M, Ghervan C, Hauschild M, Hershkovitz E, Hrabovszky E, Juul A, Kim SH, Kumanov P, Lecumberri B, Lemos MC, Neocleous V, Niedziela M, Djurdjevic SP, Persani L, Phan-Hug F, Pignatelli D, Pitteloud N, Popovic V, Quinton R, Skordis N, Smith N, Stefanija MA, Xu C, Young J, Dwyer AA. COST Action BM1105, et al. Among authors: lemos mc. Orphanet J Rare Dis. 2017 Mar 20;12(1):57. doi: 10.1186/s13023-017-0608-2. Orphanet J Rare Dis. 2017. PMID: 28320476 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: lemos mc. Sci Rep. 2019 Feb 7;9(1):1597. doi: 10.1038/s41598-018-38178-y. Sci Rep. 2019. PMID: 30733481 Free PMC article.
Association of Vitamin D Pathway Genetic Variation and Thyroid Cancer.
Carvalho IS, Gonçalves CI, Almeida JT, Azevedo T, Martins T, Rodrigues FJ, Lemos MC. Carvalho IS, et al. Among authors: lemos mc. Genes (Basel). 2019 Jul 28;10(8):572. doi: 10.3390/genes10080572. Genes (Basel). 2019. PMID: 31357732 Free PMC article.
105 results