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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 2
2003 1
2004 1
2006 2
2007 3
2008 3
2009 6
2010 6
2011 10
2012 15
2013 15
2014 10
2015 14
2016 12
2017 12
2018 16
2019 16
2020 22
2021 25
2022 6
2023 11
2024 6

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187 results

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Page 1
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: schwartz ivd. 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.
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz IVD, Silva Alves T, Dusser P, Koné-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel RB, Beck D, Shao F, Ombrello AK, Aksentijevich I, Kastner DL; Undiagnosed Diseases Network. Kozycki CT, et al. Ann Rheum Dis. 2022 Oct;81(10):1453-1464. doi: 10.1136/annrheumdis-2022-222629. Epub 2022 Jul 22. Ann Rheum Dis. 2022. PMID: 35868845 Free PMC article.
Ocular manifestations in classic homocystinuria.
Gus PI, Donis KC, Marinho D, Martins TF, de Souza CFM, Carloto RB, Leivas G, Schwartz IVD. Gus PI, et al. Ophthalmic Genet. 2021 Feb;42(1):71-74. doi: 10.1080/13816810.2020.1821384. Epub 2020 Sep 17. Ophthalmic Genet. 2021. PMID: 32940091
Feeding difficulties in patients with Phenylketonuria.
Rocha ADFD, Martinez CC, Refosco LF, Tonon T, Schwartz IVD, Almeida ST. Rocha ADFD, et al. Codas. 2023 Sep 25;35(6):e20210292. doi: 10.1590/2317-1782/20232021292pt. eCollection 2023. Codas. 2023. PMID: 37792814 Free PMC article.
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
Yıldız Y, Kuseyri Hübschmann O, Akgöz Karaosmanoğlu A, Manti F, Karaca M, Schwartz IVD, Pons R, López-Laso E, Palacios NAJ, Porta F, Kavecan I, Balcı MC, Dy-Hollins ME, Wong SN, Oppebøen M, Medeiros LS, de Paula LCP, García-Cazorla A, Hoffmann GF, Jeltsch K, Leuzzi V, Gökçay G, Hübschmann D, Harting I, Özön ZA, Sivri S, Opladen T. Yıldız Y, et al. J Inherit Metab Dis. 2023 Jul 15. doi: 10.1002/jimd.12658. Online ahead of print. J Inherit Metab Dis. 2023. PMID: 37452721
Cardiovascular findings in classic homocystinuria.
Kalil MAB, Donis KC, Poswar FO, Dos Santos BB, Santos ÂBS, Schwartz IVD. Kalil MAB, et al. Mol Genet Metab Rep. 2020 Dec 10;25:100693. doi: 10.1016/j.ymgmr.2020.100693. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33335839 Free PMC article.
Impact of COVID-19 on academic mothers.
Staniscuaski F, Reichert F, Werneck FP, de Oliveira L, Mello-Carpes PB, Soletti RC, Almeida CI, Zandona E, Ricachenevsky FK, Neumann A, Schwartz IVD, Tamajusuku ASK, Seixas A, Kmetzsch L; Parent in Science Movement. Staniscuaski F, et al. Science. 2020 May 15;368(6492):724. doi: 10.1126/science.abc2740. Science. 2020. PMID: 32409466 No abstract available.
The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant.
Pinheiro FC, Ligabue-Braun R, Siqueira ACM, Matuella C, Souza CFM, Monteiro FP, Kok F, Schwartz IVD, Sperb-Ludwig F. Pinheiro FC, et al. Genet Mol Biol. 2021 May 14;44(2):e20200281. doi: 10.1590/1678-4685-GMB-2020-0281. eCollection 2021. Genet Mol Biol. 2021. PMID: 33999094 Free PMC article.
187 results