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Year Number of Results
2013 1
2014 2
2015 3
2016 2
2018 8
2019 2
2020 3
2021 2
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21 results
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Page 1
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases.
Melo US, Schöpflin R, Acuna-Hidalgo R, Mensah MA, Fischer-Zirnsak B, Holtgrewe M, Klever MK, Türkmen S, Heinrich V, Pluym ID, Matoso E, Bernardo de Sousa S, Louro P, Hülsemann W, Cohen M, Dufke A, Latos-Bieleńska A, Vingron M, Kalscheuer V, Quintero-Rivera F, Spielmann M, Mundlos S. Melo US, et al. Am J Hum Genet. 2020 Jun 4;106(6):872-884. doi: 10.1016/j.ajhg.2020.04.016. Epub 2020 May 28. Am J Hum Genet. 2020. PMID: 32470376 Free PMC article.
Progressive Loss of Function in a Limb Enhancer during Snake Evolution.
Kvon EZ, Kamneva OK, Melo US, Barozzi I, Osterwalder M, Mannion BJ, Tissières V, Pickle CS, Plajzer-Frick I, Lee EA, Kato M, Garvin TH, Akiyama JA, Afzal V, Lopez-Rios J, Rubin EM, Dickel DE, Pennacchio LA, Visel A. Kvon EZ, et al. Among authors: melo us. Cell. 2016 Oct 20;167(3):633-642.e11. doi: 10.1016/j.cell.2016.09.028. Cell. 2016. PMID: 27768887 Free PMC article.
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
de Bruijn SE, Fiorentino A, Ottaviani D, Fanucchi S, Melo US, Corral-Serrano JC, Mulders T, Georgiou M, Rivolta C, Pontikos N, Arno G, Roberts L, Greenberg J, Albert S, Gilissen C, Aben M, Rebello G, Mead S, Raymond FL, Corominas J, Smith CEL, Kremer H, Downes S, Black GC, Webster AR, Inglehearn CF, van den Born LI, Koenekoop RK, Michaelides M, Ramesar RS, Hoyng CB, Mundlos S, Mhlanga MM, Cremers FPM, Cheetham ME, Roosing S, Hardcastle AJ. de Bruijn SE, et al. Among authors: melo us. Am J Hum Genet. 2020 Nov 5;107(5):802-814. doi: 10.1016/j.ajhg.2020.09.002. Epub 2020 Oct 5. Am J Hum Genet. 2020. PMID: 33022222 Free PMC article.
PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy.
de Paiva ARB, Lynch DS, Melo US, Lucato LT, Freua F, de Assis BDR, Barcelos I, Listik C, de Castro Dos Santos D, Macedo-Souza LI, Houlden H, Kok F. de Paiva ARB, et al. Among authors: melo us. Neurol Genet. 2019 Jan 16;5(1):e306. doi: 10.1212/NXG.0000000000000306. eCollection 2019 Feb. Neurol Genet. 2019. PMID: 30697592 Free PMC article. No abstract available.
Waardenburg syndrome: Novel mutations in a large Brazilian sample.
Bocángel MAP, Melo US, Alves LU, Pardono E, Lourenço NCV, Marcolino HVC, Otto PA, Mingroni-Netto RC. Bocángel MAP, et al. Among authors: melo us. Eur J Med Genet. 2018 Jun;61(6):348-354. doi: 10.1016/j.ejmg.2018.01.012. Epub 2018 Jan 31. Eur J Med Genet. 2018. PMID: 29407415 Free article.
Typical clinical and neuroimaging features in Sjögren-Larsson syndrome.
Paiva ARB, Melo US, Freua F, Dória D, Cabral KSS, Macedo-Souza LI, Lucato LT, Kok F. Paiva ARB, et al. Among authors: melo us. Arq Neuropsiquiatr. 2018 Apr;76(4):283. doi: 10.1590/0004-282x20180024. Arq Neuropsiquiatr. 2018. PMID: 29742247 Free article. No abstract available.
Different gene expression profiles in iPSC-derived motor neurons from ALS8 patients with variable clinical courses suggest mitigating pathways for neurodegeneration.
Oliveira D, Morales-Vicente DA, Amaral MS, Luz L, Sertié AL, Leite FS, Navarro C, Kaid C, Esposito J, Goulart E, Caires L, Alves LM, Melo US, Figueiredo T, Mitne-Neto M, Okamoto OK, Verjovski-Almeida S, Zatz M. Oliveira D, et al. Among authors: melo us. Hum Mol Genet. 2020 Jun 3;29(9):1465-1475. doi: 10.1093/hmg/ddaa069. Hum Mol Genet. 2020. PMID: 32280986
A novel complex neurological phenotype due to a homozygous mutation in FDX2.
Gurgel-Giannetti J, Lynch DS, Paiva ARB, Lucato LT, Yamamoto G, Thomsen C, Basu S, Freua F, Giannetti AV, de Assis BDR, Ribeiro MDO, Barcelos I, Sayão Souza K, Monti F, Melo US, Amorim S, Silva LGL, Macedo-Souza LI, Vianna-Morgante AM, Hirano M, Van der Knaap MS, Lill R, Vainzof M, Oldfors A, Houlden H, Kok F. Gurgel-Giannetti J, et al. Among authors: melo us. Brain. 2018 Aug 1;141(8):2289-2298. doi: 10.1093/brain/awy172. Brain. 2018. PMID: 30010796 Free PMC article.
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