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New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly.
de Castro VF, Mattos D, de Carvalho FM, Cavalcanti DP, Duenas-Roque MM, Llerena J Jr, Cosentino VR, Honjo RS, Leite JCL, Sanseverino MT, de Souza MPA, Bernardi P, Bolognese AM, Santana da Silva LC, Barbero P, Correia PS, Bueno LSM, Savastano CP, Orioli IM. de Castro VF, et al. Among authors: bernardi p. Mol Syndromol. 2021 Jul;12(4):219-233. doi: 10.1159/000515044. Epub 2021 Jun 15. Mol Syndromol. 2021. PMID: 34421500 Free PMC article.
The germline mutational landscape of BRCA1 and BRCA2 in Brazil.
Palmero EI, Carraro DM, Alemar B, Moreira MAM, Ribeiro-Dos-Santos Â, Abe-Sandes K, Galvão HCR, Reis RM, de Pádua Souza C, Campacci N, Achatz MI, Brianese RC, da Cruz Formiga MN, Makdissi FB, Vargas FR, Evangelista Dos Santos AC, Seuanez HN, Lobo de Souza KR, Netto CBO, Santos-Silva P, da Silva GS, Burbano RMR, Santos S, Assumpção PP, Bernardes IMM, Machado-Lopes TMB, Bomfim TF, Toralles MBP, Nascimento I, Garicochea B, Simon SD, Noronha S, de Lima FT, Chami AM, Bittar CM, Bines J, Artigalas O, Esteves-Diz MDP, Lajus TBP, Gifoni ACLVC, Guindalini RSC, Cintra TS, Schwartz IVD, Bernardi P, Miguel D, Nogueira STDS, Herzog J, Weitzel JN, Ashton-Prolla P. Palmero EI, et al. Among authors: bernardi p. Sci Rep. 2018 Jun 15;8(1):9188. doi: 10.1038/s41598-018-27315-2. Sci Rep. 2018. PMID: 29907814 Free PMC article. Clinical Trial.
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.
CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.
Poloni S, Sperb-Ludwig F, Borsatto T, Weber Hoss G, Doriqui MJR, Embiruçu EK, Boa-Sorte N, Marques C, Kim CA, Fischinger Moura de Souza C, Rocha H, Ribeiro M, Steiner CE, Moreno CA, Bernardi P, Valadares E, Artigalas O, Carvalho G, Wanderley HYC, Kugele J, Walter M, Gallego-Villar L, Blom HJ, Schwartz IVD. Poloni S, et al. Among authors: bernardi p. Mol Genet Genomic Med. 2018 Mar;6(2):160-170. doi: 10.1002/mgg3.342. Epub 2018 Jan 20. Mol Genet Genomic Med. 2018. PMID: 29352562 Free PMC article.
Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.
Borsatto T, Sperb-Ludwig F, Pinto LL, Luca GR, Carvalho FL, Souza CF, Medeiros PF, Lourenço CM, Lo Filho R, Neto EC, Bernardi P, Leistner-Segal S, Schwartz IV. Borsatto T, et al. Among authors: bernardi p. BMC Med Genet. 2014 Sep 1;15:96. doi: 10.1186/s12881-014-0096-3. BMC Med Genet. 2014. PMID: 25174816 Free PMC article.
Type 1 diabetes in a patient with Ellis-van Creveld syndrome.
Graziadio C, Bernardi P, Rosa RF, Zen PR, Paskulin GA. Graziadio C, et al. Among authors: bernardi p. Sao Paulo Med J. 2012;130(1):53-6. doi: 10.1590/s1516-31802012000100009. Sao Paulo Med J. 2012. PMID: 22344360 Free PMC article.
525 results