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Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs.
Int J Neonatal Screen. 2021 Aug 11;7(3):53. doi: 10.3390/ijns7030053.
Int J Neonatal Screen. 2021.
PMID: 34449526
Free PMC article.
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.
Romanelli Tavares VL, Zechi-Ceide RM, Bertola DR, Gordon CT, Ferreira SG, Hsia GS, Yamamoto GL, Ezquina SA, Kokitsu-Nakata NM, Vendramini-Pittoli S, Freitas RS, Souza J, Raposo-Amaral CA, Zatz M, Amiel J, Guion-Almeida ML, Passos-Bueno MR.
Romanelli Tavares VL, et al.
Am J Med Genet A. 2017 Apr;173(4):938-945. doi: 10.1002/ajmg.a.38101.
Am J Med Genet A. 2017.
PMID: 28328130
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Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.
Romanelli Tavares VL, Gordon CT, Zechi-Ceide RM, Kokitsu-Nakata NM, Voisin N, Tan TY, Heggie AA, Vendramini-Pittoli S, Propst EJ, Papsin BC, Torres TT, Buermans H, Capelo LP, den Dunnen JT, Guion-Almeida ML, Lyonnet S, Amiel J, Passos-Bueno MR.
Romanelli Tavares VL, et al.
Eur J Hum Genet. 2015 Apr;23(4):481-5. doi: 10.1038/ejhg.2014.132. Epub 2014 Jul 16.
Eur J Hum Genet. 2015.
PMID: 25026904
Free PMC article.
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Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Vegas N, Demir Z, Gordon CT, Breton S, Romanelli Tavares VL, Moisset H, Zechi-Ceide R, Kokitsu-Nakata NM, Kido Y, Marlin S, Gherbi Halem S, Meerschaut I, Callewaert B, Chung B, Revencu N, Lehalle D, Petit F, Propst EJ, Papsin BC, Phillips JH, Jakobsen L, Le Tanno P, Thévenon J, McGaughran J, Gerkes EH, Leoni C, Kroisel P, Tan TY, Henderson A, Terhal P, Basel-Salmon L, Alkindy A, White SM, Passos-Bueno MR, Pingault V, De Pontual L, Amiel J.
Vegas N, et al. Among authors: romanelli tavares vl.
Hum Mutat. 2022 May;43(5):582-594. doi: 10.1002/humu.24349. Epub 2022 Mar 7.
Hum Mutat. 2022.
PMID: 35170830
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Auriculo-condylar syndrome. Confronting a diagnostic challenge.
Kokitsu-Nakata NM, Zechi-Ceide RM, Vendramini-Pittoli S, Romanelli Tavares VL, Passos-Bueno MR, Guion-Almeida ML.
Kokitsu-Nakata NM, et al. Among authors: romanelli tavares vl.
Am J Med Genet A. 2012 Jan;158A(1):59-65. doi: 10.1002/ajmg.a.34337. Epub 2011 Nov 21.
Am J Med Genet A. 2012.
PMID: 22105959
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New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements.
Romanelli Tavares VL, Guimarães-Ramos SL, Zhou Y, Masotti C, Ezquina S, Moreira DP, Buermans H, Freitas RS, Den Dunnen JT, Twigg SRF, Passos-Bueno MR.
Romanelli Tavares VL, et al.
J Med Genet. 2022 Sep;59(9):895-905. doi: 10.1136/jmedgenet-2021-107825. Epub 2021 Nov 8.
J Med Genet. 2022.
PMID: 34750192
Free PMC article.
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Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5'UTR of EFNB1.
Romanelli Tavares VL, Kague E, Musso CM, Alegria TGP, Freitas RS, Bertola DR, Twigg SRF, Passos-Bueno MR.
Romanelli Tavares VL, et al.
Mol Syndromol. 2019 Feb;10(1-2):40-47. doi: 10.1159/000490635. Epub 2018 Jul 3.
Mol Syndromol. 2019.
PMID: 30976278
Free PMC article.
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IMPORTANCE trial: a provisional study-design of a single-center, phase II, double-blinded, placebo-controlled, randomized, 4-week study to compare the efficacy and safety of intranasal esketamine in chronic opioid refractory pain.
Fernandes M, Schelotto M, Doldi PM, Milani G, Ariza Manzano AA, Perera Valdivia D, Winter Matos AM, Hamdy Abdelrahim Y, Hamad Bek SA, Benitez BK, Romanelli Tavares VL, Basendwah AM, Albuquerque Sousa LH, Xavier NF, Zertuche Maldonado T, Toyomi de Oliveira S, Chaker M, Menon Miyake M, Uygur Kucukseymen E, Waqar K, Alkhozondar OMJ, Bernardo da Silva R, Droppelmann G, Vaz de Macedo A, Nakamura R, Fregni F.
Fernandes M, et al. Among authors: romanelli tavares vl.
F1000Res. 2021 Jan 22;10:42. doi: 10.12688/f1000research.27809.1. eCollection 2021.
F1000Res. 2021.
PMID: 33732434
Free PMC article.
Clinical Trial.
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