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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

126 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Population medical genetics: translating science to the community.
Giugliani R, Bender F, Couto R, Bochernitsan A, Brusius-Facchin AC, Burin M, Amorim T, Acosta AX, Purificação A, Leistner-Segal S, Saraiva-Pereira ML, Jardim LB, Matte U, Riegel M, Cardoso-Dos-Santos AC, Rodrigues G, Oliveira MZ, Tagliani-Ribeiro A, Heck S, Dresch V, Schuler-Faccini L, Kubaski F. Giugliani R, et al. Among authors: amorim t. Genet Mol Biol. 2019;42(1 suppl 1):312-320. doi: 10.1590/1678-4685-GMB-2018-0096. Epub 2019 Apr 11. Genet Mol Biol. 2019. PMID: 30985854 Free PMC article.
Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives.
Kubaski F, Sousa I, Amorim T, Pereira D, Trometer J, Souza A, Ranieri E, Polo G, Burlina A, Brusius-Facchin AC, Netto ABO, Tomatsu S, Giugliani R. Kubaski F, et al. Among authors: amorim t. Int J Neonatal Screen. 2020 Nov 13;6(4):90. doi: 10.3390/ijns6040090. Int J Neonatal Screen. 2020. PMID: 33203019 Free PMC article. Review.
Pilot study of newborn screening for six lysosomal diseases in Brazil.
Kubaski F, Sousa I, Amorim T, Pereira D, Silva C, Chaves V, Brusius-Facchin AC, Netto ABO, Soares J, Vairo F, Poletto E, Trometer J, Souza A, Ranieri E, Polo G, Hong X, Herbst ZM, Burlina A, Gelb MH, Giugliani R. Kubaski F, et al. Among authors: amorim t. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107654. doi: 10.1016/j.ymgme.2023.107654. Epub 2023 Jul 13. Mol Genet Metab. 2023. PMID: 37507255
Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.
de Oliveira BM, Bernardi FA, Baiochi JF, Neiva MB, Artifon M, Vergara AA, Martins AM, Grumach AS, Acosta AX, Husny ASE, de Freitas Rodrigues Ribeiro B, Ramos CF, Steiner CE, Kim CA, Christofolini DM, Yamada DB, Carvalho EDF, Ribeiro EM, de Arruda Bastos F, Serpa FS, Brandão FR, Adjuto GMAF, Carvalho I, Saute JAM, Junior JCL, Bueno LSM, da Silva LCS, Santos MLSF, Costa MCM, Giusti MMCG, Galera MF, Filho MEC, de Andrade MDFC, De Oliveira Cardoso MT, de Menezes Ferreira MM, Zeny M, Caldato MCF, Sorte NB, Musolino NRC, de Medeiros PFV, Zen PRG, Da Silva RTB, Maia RE, Fock R, Almeida RES, Valle SOR, Amorim T, Teixeira TB, Prazeres VMG, de Faria Ferraz VE, Lima VC, Paiva WJM, Schwartz IVD, Alves D, Félix TM; Raras Network Group. de Oliveira BM, et al. Among authors: amorim t. Orphanet J Rare Dis. 2024 Oct 30;19(1):405. doi: 10.1186/s13023-024-03392-7. Orphanet J Rare Dis. 2024. PMID: 39478612 Free PMC article.
Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Brazilian children with thyroid dysgenesis.
Cerqueira TLO, Ramos YR, Strappa GB, Jesus MS, Santos JG, Sousa C, Carvalho G, Fernandes V, Boa-Sorte N, Amorim T, Silva TM, Ladeia AMT, Acosta AX, Ramos HE. Cerqueira TLO, et al. Among authors: amorim t. Arch Endocrinol Metab. 2018 Aug;62(4):466-471. doi: 10.20945/2359-3997000000065. Arch Endocrinol Metab. 2018. PMID: 30304112 Free PMC article.
Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing.
Tresbach RH, Sperb-Ludwig F, Ligabue-Braun R, Bitencourt FH, Tonon T, Souza CFM, Poswar FO, Leite MEQ, Amorim T, Porta G, Seda Neto J, Miura IK, Steiner CE, Martins AM, Pessoa ALS, Ribeiro EM, Schwartz IVD. Tresbach RH, et al. Among authors: amorim t. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108569. doi: 10.1016/j.ymgme.2024.108569. Epub 2024 Aug 29. Mol Genet Metab. 2024. PMID: 39270351
126 results