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

Year Number of Results
1972 1
1978 1
1983 1
1985 1
1986 1
1988 1
1990 1
1991 3
1992 2
1993 2
1994 2
1995 1
1996 5
1997 2
1998 4
1999 4
2000 4
2001 2
2002 5
2003 5
2004 7
2005 2
2006 6
2007 6
2008 9
2009 6
2010 4
2011 5
2012 12
2013 5
2014 6
2015 9
2016 5
2017 3
2018 9
2019 9
2020 9
2021 12
2022 15
2023 22
2024 8
2025 8

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207 results

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Page 1
Mutation in the alpha-synuclein gene identified in families with Parkinson's disease.
Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL. Polymeropoulos MH, et al. Among authors: dutra a. Science. 1997 Jun 27;276(5321):2045-7. doi: 10.1126/science.276.5321.2045. Science. 1997. PMID: 9197268
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Eriksson M, et al. Among authors: dutra a. Nature. 2003 May 15;423(6937):293-8. doi: 10.1038/nature01629. Epub 2003 Apr 25. Nature. 2003. PMID: 12714972 Free PMC article.
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M; ITALSGEN Consortium; Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ. Renton AE, et al. Among authors: dutra a. Neuron. 2011 Oct 20;72(2):257-68. doi: 10.1016/j.neuron.2011.09.010. Epub 2011 Sep 21. Neuron. 2011. PMID: 21944779 Free PMC article.
alpha-Synuclein locus triplication causes Parkinson's disease.
Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R, Lincoln S, Crawley A, Hanson M, Maraganore D, Adler C, Cookson MR, Muenter M, Baptista M, Miller D, Blancato J, Hardy J, Gwinn-Hardy K. Singleton AB, et al. Among authors: dutra a. Science. 2003 Oct 31;302(5646):841. doi: 10.1126/science.1090278. Science. 2003. PMID: 14593171 No abstract available.
Telomere-to-telomere assembly of a complete human X chromosome.
Miga KH, Koren S, Rhie A, Vollger MR, Gershman A, Bzikadze A, Brooks S, Howe E, Porubsky D, Logsdon GA, Schneider VA, Potapova T, Wood J, Chow W, Armstrong J, Fredrickson J, Pak E, Tigyi K, Kremitzki M, Markovic C, Maduro V, Dutra A, Bouffard GG, Chang AM, Hansen NF, Wilfert AB, Thibaud-Nissen F, Schmitt AD, Belton JM, Selvaraj S, Dennis MY, Soto DC, Sahasrabudhe R, Kaya G, Quick J, Loman NJ, Holmes N, Loose M, Surti U, Risques RA, Graves Lindsay TA, Fulton R, Hall I, Paten B, Howe K, Timp W, Young A, Mullikin JC, Pevzner PA, Gerton JL, Sullivan BA, Eichler EE, Phillippy AM. Miga KH, et al. Among authors: dutra a. Nature. 2020 Sep;585(7823):79-84. doi: 10.1038/s41586-020-2547-7. Epub 2020 Jul 14. Nature. 2020. PMID: 32663838 Free PMC article.
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases.
Quaio CRDC, Moreira CM, Novo-Filho GM, Sacramento-Bobotis PR, Groenner Penna M, Perazzio SF, Dutra AP, da Silva RA, Santos MNP, de Arruda VYN, Freitas VG, Pereira VC, Pintao MC, Fornari ARDS, Buzolin AL, Oku AY, Burger M, Ramalho RF, Marco Antonio DS, E Ferreira EN, Pereira OJE, Cantagalli VD, Trindade ACG, de Sousa RRF, Reys Furuzawa C, Verzini F, Matalhana SD, Romano N, Paixão D, Olivati C, Spolador GM, Maciel GAR, Rocha VZ, Miguelez J, de Carvalho MHB, de Souza AWS, Andrade LEC, Chauffaille ML, Perazzio ADSB, Catelani ALPM, Mitne-Neto M, Kim CA, Baratela WADR. Quaio CRDC, et al. Among authors: dutra ap. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):955-964. doi: 10.1002/ajmg.c.31860. Epub 2020 Nov 30. Am J Med Genet C Semin Med Genet. 2020. PMID: 33258288
Vulvar myiasis.
Passos MR, Carvalho AV, Dutra AL, Goulart Filho RA, Barreto NA, Salles RS, Santos CC, Tibúrcio AS, Monteiro AC, Tavares RR. Passos MR, et al. Among authors: dutra al. Infect Dis Obstet Gynecol. 1998;6(2):69-71. doi: 10.1002/(SICI)1098-0997(1998)6:2<69::AID-IDOG8>3.0.CO;2-2. Infect Dis Obstet Gynecol. 1998. PMID: 9702589 Free PMC article.
The human inactive X chromosome modulates expression of the active X chromosome.
San Roman AK, Godfrey AK, Skaletsky H, Bellott DW, Groff AF, Harris HL, Blanton LV, Hughes JF, Brown L, Phou S, Buscetta A, Kruszka P, Banks N, Dutra A, Pak E, Lasutschinkow PC, Keen C, Davis SM, Tartaglia NR, Samango-Sprouse C, Muenke M, Page DC. San Roman AK, et al. Among authors: dutra a. Cell Genom. 2023 Feb 8;3(2):100259. doi: 10.1016/j.xgen.2023.100259. eCollection 2023 Feb 8. Cell Genom. 2023. PMID: 36819663 Free PMC article.
Low mutation rate in epaulette sharks is consistent with a slow rate of evolution in sharks.
Sendell-Price AT, Tulenko FJ, Pettersson M, Kang D, Montandon M, Winkler S, Kulb K, Naylor GP, Phillippy A, Fedrigo O, Mountcastle J, Balacco JR, Dutra A, Dale RE, Haase B, Jarvis ED, Myers G, Burgess SM, Currie PD, Andersson L, Schartl M. Sendell-Price AT, et al. Among authors: dutra a. Nat Commun. 2023 Oct 19;14(1):6628. doi: 10.1038/s41467-023-42238-x. Nat Commun. 2023. PMID: 37857613 Free PMC article.
Metastatic Biphasic Primitive Tumor in the Mandible of a Child.
Pinheiro TN, Leite MGM, Bindá FA, Dutra ALT, Sarmento N, Cabral LN, Consolaro A, Bacchi CE. Pinheiro TN, et al. Among authors: dutra alt. Eur J Dent. 2020 Jul;14(3):502-510. doi: 10.1055/s-0040-1713306. Epub 2020 Jun 15. Eur J Dent. 2020. PMID: 32542629 Free PMC article.
207 results