Catarina I. Gonçalves - Search Results

Year	Number of Results
2017	1
2019	2
2020	1
2022	3
2023	1
2024	0

1

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.

Gonçalves CI, Carriço J, Bastos M, Lemos MC. Gonçalves CI, et al. Int J Mol Sci. 2022 Sep 2;23(17):10026. doi: 10.3390/ijms231710026. Int J Mol Sci. 2022. PMID: 36077423 Free PMC article. Review.

2

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. Sci Rep. 2019 Feb 7;9(1):1597. doi: 10.1038/s41598-018-38178-y. Sci Rep. 2019. PMID: 30733481 Free PMC article.

3

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: goncalves ci. Genes (Basel). 2019 Jul 28;10(8):572. doi: 10.3390/genes10080572. Genes (Basel). 2019. PMID: 31357732 Free PMC article.

4

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

Fadiga L, Lavrador M, Vicente N, Barros L, Gonçalves CI, Al-Naama A, Saraiva LR, Lemos MC. Fadiga L, et al. Among authors: goncalves ci. Int J Mol Sci. 2022 Apr 17;23(8):4423. doi: 10.3390/ijms23084423. Int J Mol Sci. 2022. PMID: 35457241 Free PMC article.

5

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

Gaspar LM, Gonçalves CI, Fonseca F, Carvalho D, Cortez L, Palha A, Barros IF, Nobre E, Duarte JS, Amaral C, Bugalho MJ, Marques O, Pereira BD, Lemos MC. Gaspar LM, et al. Among authors: goncalves ci. Int J Mol Sci. 2022 Oct 4;23(19):11749. doi: 10.3390/ijms231911749. Int J Mol Sci. 2022. PMID: 36233050 Free PMC article.

6

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

Gonçalves CI, Carriço JN, Omar OM, Abdalla E, Lemos MC. Gonçalves CI, et al. Front Endocrinol (Lausanne). 2023 Aug 4;14:1207425. doi: 10.3389/fendo.2023.1207425. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37600721 Free PMC article.

7

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

Alvelos MI, Gonçalves CI, Coutinho E, Almeida JT, Bastos M, Sampaio ML, Melo M, Martins S, Dinis I, Mirante A, Gomes L, Saraiva J, Pereira BD, Gama-de-Sousa S, Moreno C, Guelho D, Martins D, Baptista C, Barros L, Ventura M, Gomes MM, Lemos MC. Alvelos MI, et al. Among authors: goncalves ci. J Clin Med. 2020 Jan 20;9(1):288. doi: 10.3390/jcm9010288. J Clin Med. 2020. PMID: 31968686 Free PMC article.

8

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

Gonçalves CI, Aragüés JM, Bastos M, Barros L, Vicente N, Carvalho D, Lemos MC. Gonçalves CI, et al. Endocr Connect. 2017 Aug;6(6):360-366. doi: 10.1530/EC-17-0104. Epub 2017 Jun 13. Endocr Connect. 2017. PMID: 28611058 Free PMC article.

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