Teresa Borges

Expanding the genetic spectrum of<i>ANOS1</i>mutations in patients with congenital hypogonadotropic hypogonadism

Catarina Gonçalves, F. Fonseca, Teresa Borges et al. · Human Reproduction · 2016 · 26 citations · Full text

Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform

Catarina Gonçalves, Margarida Bastos, Duarte Pignatelli et al. · Fertility and Sterility · 2015 · 20 citations · Full text

Infertility, Developmental Biology, Growth Hormone +11

Prenatal Diagnosis and Management of a Fetal Goiter Hypothyroidism due to Dyshormonogenesis

Catarina Figueiredo, Inês Falcão, Joana Vilaverde et al. · Case Reports in Endocrinology · 2018 · 19 citations · Full text

Maternal Thyroid Function, Iodine Deficiency Disorders, Thyroid Disease +15

MODY probability calculator utility in individuals' selection for genetic testing: Its accuracy and performance

Tiago Santos, Liliana Fonseca, Sílvia Santos Monteiro et al. · Endocrinology Diabetes & Metabolism · 2022 · 17 citations · Full text

&lt;b&gt;&lt;i&gt;CYP21A2&lt;/i&gt;&lt;/b&gt; Gene Pathogenic Variants: A Multicenter Study on Genotype–Phenotype Correlation from a Portuguese Pediatric Cohort

Rita Santos Silva, Rita Cardoso, Lurdes Lopes et al. · Hormone Research in Paediatrics · 2019 · 14 citations