Laranjeira F - Search Results

1

Maturity-onset diabetes of the young in a large Portuguese cohort.

Santos Monteiro S, da Silva Santos T, Fonseca L, Assunção G, Lopes AM, Duarte DB, Soares AR, Laranjeira F, Ribeiro I, Pinto E, Rocha S, Barbosa Gouveia S, Vazquez-Mosquera ME, Oliveira MJ, Borges T, Cardoso MH. Santos Monteiro S, et al. Among authors: laranjeira f. Acta Diabetol. 2023 Jan;60(1):83-91. doi: 10.1007/s00592-022-01980-2. Epub 2022 Oct 8. Acta Diabetol. 2023. PMID: 36208343

2

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

da Silva Santos T, Fonseca L, Santos Monteiro S, Borges Duarte D, Martins Lopes A, Couto de Carvalho A, Oliveira MJ, Borges T, Laranjeira F, Couce ML, Cardoso MH. da Silva Santos T, et al. Among authors: laranjeira f. Endocrinol Diabetes Metab. 2022 Sep;5(5):e00332. doi: 10.1002/edm2.332. Epub 2022 Jul 12. Endocrinol Diabetes Metab. 2022. PMID: 35822264 Free PMC article.

3

Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.

Barbosa-Gouveia S, Vázquez-Mosquera ME, González-Vioque E, Álvarez JV, Chans R, Laranjeira F, Martins E, Ferreira AC, Avila-Alvarez A, Couce ML. Barbosa-Gouveia S, et al. Among authors: laranjeira f. Genes (Basel). 2021 Aug 19;12(8):1262. doi: 10.3390/genes12081262. Genes (Basel). 2021. PMID: 34440436 Free PMC article.

4

Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.

Barbosa-Gouveia S, Vázquez-Mosquera ME, González-Vioque E, Hermida-Ameijeiras Á, Sánchez-Pintos P, de Castro MJ, León SR, Gil-Fournier B, Domínguez-González C, Camacho Salas A, Negrão L, Fineza I, Laranjeira F, Couce ML. Barbosa-Gouveia S, et al. Among authors: laranjeira f. J Clin Med. 2022 May 12;11(10):2750. doi: 10.3390/jcm11102750. J Clin Med. 2022. PMID: 35628876 Free PMC article.

5

Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant.

Carneiro F, Duarte J, Laranjeira F, Barbosa-Gouveia S, Couce ML, Fonseca MJ. Carneiro F, et al. Among authors: laranjeira f. Front Pediatr. 2021 Aug 27;9:728077. doi: 10.3389/fped.2021.728077. eCollection 2021. Front Pediatr. 2021. PMID: 34513772 Free PMC article.

6

Genotype-phenotype correlations and BH₄ estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil.

Vieira Neto E, Laranjeira F, Quelhas D, Ribeiro I, Seabra A, Mineiro N, Carvalho LM, Lacerda L, Ribeiro MG. Vieira Neto E, et al. Among authors: laranjeira f. Mol Genet Genomic Med. 2019 May;7(5):e610. doi: 10.1002/mgg3.610. Epub 2019 Mar 3. Mol Genet Genomic Med. 2019. PMID: 30829006 Free PMC article.

7

Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels.

Sá MJ, Rocha JC, Almeida MF, Carmona C, Martins E, Miranda V, Coutinho M, Ferreira R, Pacheco S, Laranjeira F, Ribeiro I, Fortuna AM, Lacerda L. Sá MJ, et al. Among authors: laranjeira f. JIMD Rep. 2016;26:53-60. doi: 10.1007/8904_2015_487. Epub 2015 Aug 25. JIMD Rep. 2016. PMID: 26303611 Free PMC article.

8

Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil.

Vieira Neto E, Laranjeira F, Quelhas D, Ribeiro I, Seabra A, Mineiro N, D M Carvalho L, Lacerda L, G Ribeiro M. Vieira Neto E, et al. Among authors: laranjeira f. Mol Genet Genomic Med. 2018 May 10;6(4):575-91. doi: 10.1002/mgg3.408. Online ahead of print. Mol Genet Genomic Med. 2018. PMID: 29749107 Free PMC article.

9

Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.

Matos L, Gonçalves V, Pinto E, Laranjeira F, Prata MJ, Jordan P, Desviat LR, Pérez B, Alves S. Matos L, et al. Among authors: laranjeira f. Biochim Biophys Acta. 2015 Dec;1852(12):2712-21. doi: 10.1016/j.bbadis.2015.09.011. Epub 2015 Sep 25. Biochim Biophys Acta. 2015. PMID: 26407519 Free article.

10

Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.

Matos L, Gonçalves V, Pinto E, Laranjeira F, Prata MJ, Jordan P, Desviat LR, Pérez B, Alves S. Matos L, et al. Among authors: laranjeira f. Data Brief. 2015 Oct 28;5:810-7. doi: 10.1016/j.dib.2015.10.011. eCollection 2015 Dec. Data Brief. 2015. PMID: 26693516 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

35 results

Search Page