Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients

por Gonçalves, Catarina I., Carriço, Josianne, Bastos, Margarida, Lemos, Manuel C.
Publicado 2022

Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site

por Gonçalves, Catarina I., Carriço, Josianne N., Omar, Omneya M., Abdalla, Ebtesam, Lemos, Manuel C.
Publicado 2023

GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism

por Gonçalves, Catarina I, Aragüés, José M, Bastos, Margarida, Barros, Luísa, Vicente, Nuno, Carvalho, Davide, Lemos, Manuel C
Publicado 2017

Association of Vitamin D Pathway Genetic Variation and Thyroid Cancer

por Carvalho, Isabel S., Gonçalves, Catarina I., Almeida, Joana T., Azevedo, Teresa, Martins, Teresa, Rodrigues, Fernando J., Lemos, Manuel C.
Publicado 2019

A Novel FGFR1 Missense Mutation in a Portuguese Family with Congenital Hypogonadotropic Hypogonadism

por Fadiga, Lúcia, Lavrador, Mariana, Vicente, Nuno, Barros, Luísa, Gonçalves, Catarina I., Al-Naama, Asma, Saraiva, Luis R., Lemos, Manuel C.
Publicado 2022

A Common Variant in the CDK8 Gene Is Associated with Sporadic Pituitary Adenomas in the Portuguese Population: A Case-Control Study

por Gaspar, Leonor M., Gonçalves, Catarina I., Fonseca, Fernando, Carvalho, Davide, Cortez, Luísa, Palha, Ana, Barros, Inês F., Nobre, Ema, Duarte, João S., Amaral, Cláudia, Bugalho, Maria J., Marques, Olinda, Pereira, Bernardo D., Lemos, Manuel C.
Publicado 2022

Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations

por Alvelos, Maria I., Gonçalves, Catarina I., Coutinho, Eduarda, Almeida, Joana T., Bastos, Margarida, Sampaio, Maria L., Melo, Miguel, Martins, Sofia, Dinis, Isabel, Mirante, Alice, Gomes, Leonor, Saraiva, Joana, Pereira, Bernardo D., Gama-de-Sousa, Susana, Moreno, Carolina, Guelho, Daniela, Martins, Diana, Baptista, Carla, Barros, Luísa, Ventura, Mara, Gomes, Maria M., Lemos, Manuel C.
Publicado 2020