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

Year Number of Results
1994 1
1998 1
1999 1
2001 2
2002 2
2003 1
2004 5
2005 3
2006 2
2007 5
2008 5
2009 10
2010 11
2011 13
2012 17
2013 19
2014 16
2015 17
2016 12
2017 12
2018 17
2019 22
2020 23
2021 25
2022 7
2023 12
2024 9

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235 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. Among authors: schwartz ivd. 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. Among authors: schwartz ivd. Ophthalmic Genet. 2021 Feb;42(1):71-74. doi: 10.1080/13816810.2020.1821384. Epub 2020 Sep 17. Ophthalmic Genet. 2021. PMID: 32940091
Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
Panis B, Vos EN, Barić I, Bosch AM, Brouwers MCGJ, Burlina A, Cassiman D, Coman DJ, Couce ML, Das AM, Demirbas D, Empain A, Gautschi M, Grafakou O, Grunewald S, Kingma SDK, Knerr I, Leão-Teles E, Möslinger D, Murphy E, Õunap K, Pané A, Paci S, Parini R, Rivera IA, Scholl-Bürgi S, Schwartz IVD, Sdogou T, Shakerdi LA, Skouma A, Stepien KM, Treacy EP, Waisbren S, Berry GT, Rubio-Gozalbo ME. Panis B, et al. Among authors: schwartz ivd. Front Genet. 2024 Feb 15;15:1355962. doi: 10.3389/fgene.2024.1355962. eCollection 2024. Front Genet. 2024. PMID: 38425716 Free PMC article. Review.
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. Among authors: schwartz ivd. Science. 2020 May 15;368(6492):724. doi: 10.1126/science.abc2740. Science. 2020. PMID: 32409466 No abstract available.
Cardiovascular findings in classic homocystinuria.
Kalil MAB, Donis KC, Poswar FO, Dos Santos BB, Santos ÂBS, Schwartz IVD. Kalil MAB, et al. Among authors: schwartz ivd. 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.
Feeding difficulties in patients with Phenylketonuria.
Rocha ADFD, Martinez CC, Refosco LF, Tonon T, Schwartz IVD, Almeida ST. Rocha ADFD, et al. Among authors: schwartz ivd. Codas. 2023 Sep 25;35(6):e20210292. doi: 10.1590/2317-1782/20232021292pt. eCollection 2023. Codas. 2023. PMID: 37792814 Free PMC article.
Introduction to the special issue on Clinical Genetics in Latin America.
Prada CE, Cavalcanti D, Schwartz IVD, Zarate YA. Prada CE, et al. Among authors: schwartz ivd. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):873-875. doi: 10.1002/ajmg.c.31875. Epub 2020 Dec 22. Am J Med Genet C Semin Med Genet. 2020. PMID: 33354820 No abstract available.
Multidisciplinary management of Hunter syndrome.
Muenzer J, Beck M, Eng CM, Escolar ML, Giugliani R, Guffon NH, Harmatz P, Kamin W, Kampmann C, Koseoglu ST, Link B, Martin RA, Molter DW, Muñoz Rojas MV, Ogilvie JW, Parini R, Ramaswami U, Scarpa M, Schwartz IV, Wood RE, Wraith E. Muenzer J, et al. Among authors: schwartz iv. Pediatrics. 2009 Dec;124(6):e1228-39. doi: 10.1542/peds.2008-0999. Epub 2009 Nov 9. Pediatrics. 2009. PMID: 19901005 Review.
235 results