Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

828 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Prevalence of lysosomal storage diseases in Portugal.
Pinto R, Caseiro C, Lemos M, Lopes L, Fontes A, Ribeiro H, Pinto E, Silva E, Rocha S, Marcão A, Ribeiro I, Lacerda L, Ribeiro G, Amaral O, Sá Miranda MC. Pinto R, et al. Among authors: ribeiro h, ribeiro i, ribeiro g. Eur J Hum Genet. 2004 Feb;12(2):87-92. doi: 10.1038/sj.ejhg.5201044. Eur J Hum Genet. 2004. PMID: 14685153
Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.
Morrone A, Tylee KL, Al-Sayed M, Brusius-Facchin AC, Caciotti A, Church HJ, Coll MJ, Davidson K, Fietz MJ, Gort L, Hegde M, Kubaski F, Lacerda L, Laranjeira F, Leistner-Segal S, Mooney S, Pajares S, Pollard L, Ribeiro I, Wang RY, Miller N. Morrone A, et al. Among authors: ribeiro i. Mol Genet Metab. 2014 Jun;112(2):160-70. doi: 10.1016/j.ymgme.2014.03.004. Epub 2014 Mar 20. Mol Genet Metab. 2014. PMID: 24726177 Free PMC article.
NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient.
Encarnação M, Coutinho MF, Cho SM, Cardoso MT, Ribeiro I, Chaves P, Santos JI, Quelhas D, Lacerda L, Leão Teles E, Futerman AH, Vilarinho L, Alves S. Encarnação M, et al. Among authors: ribeiro i. Mol Genet Genomic Med. 2020 Nov;8(11):e1451. doi: 10.1002/mgg3.1451. Epub 2020 Sep 15. Mol Genet Genomic Med. 2020. PMID: 32931663 Free PMC article.
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: ribeiro i. Acta Diabetol. 2023 Jan;60(1):83-91. doi: 10.1007/s00592-022-01980-2. Epub 2022 Oct 8. Acta Diabetol. 2023. PMID: 36208343
828 results