Masotti C - Search Results

1

Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity.

Masotti C, Oliveira KG, Poerner F, Splendore A, Souza J, Freitas Rda S, Zechi-Ceide R, Guion-Almeida ML, Passos-Bueno MR. Masotti C, et al. Eur J Hum Genet. 2008 Feb;16(2):145-52. doi: 10.1038/sj.ejhg.5201955. Epub 2007 Nov 14. Eur J Hum Genet. 2008. PMID: 18000524

2

TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature.

Splendore A, Fanganiello RD, Masotti C, Morganti LS, Passos-Bueno MR. Splendore A, et al. Among authors: masotti c. Hum Mutat. 2005 May;25(5):429-34. doi: 10.1002/humu.20159. Hum Mutat. 2005. PMID: 15832313

3

A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction.

Masotti C, Armelin-Correa LM, Splendore A, Lin CJ, Barbosa A, Sogayar MC, Passos-Bueno MR. Masotti C, et al. Gene. 2005 Oct 10;359:44-52. doi: 10.1016/j.gene.2005.06.004. Gene. 2005. PMID: 16102917

4

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.

Masotti C, Ornelas CC, Splendore-Gordonos A, Moura R, Félix TM, Alonso N, Camargo AA, Passos-Bueno MR. Masotti C, et al. BMC Med Genet. 2009 Dec 14;10:136. doi: 10.1186/1471-2350-10-136. BMC Med Genet. 2009. PMID: 20003452 Free PMC article.

5

Human stem cell cultures from cleft lip/palate patients show enrichment of transcripts involved in extracellular matrix modeling by comparison to controls.

Bueno DF, Sunaga DY, Kobayashi GS, Aguena M, Raposo-Amaral CE, Masotti C, Cruz LA, Pearson PL, Passos-Bueno MR. Bueno DF, et al. Among authors: masotti c. Stem Cell Rev Rep. 2011 Jun;7(2):446-57. doi: 10.1007/s12015-010-9197-3. Stem Cell Rev Rep. 2011. PMID: 21052871 Free PMC article.

6

Region 8q24 is a susceptibility locus for nonsyndromic oral clefting in Brazil.

Brito LA, Paranaiba LM, Bassi CF, Masotti C, Malcher C, Schlesinger D, Rocha KM, Cruz LA, Bárbara LK, Alonso N, Franco D, Bagordakis E, Martelli H Jr, Meyer D, Coletta RD, Passos-Bueno MR. Brito LA, et al. Among authors: masotti c. Birth Defects Res A Clin Mol Teratol. 2012 Jun;94(6):464-8. doi: 10.1002/bdra.23011. Epub 2012 Apr 18. Birth Defects Res A Clin Mol Teratol. 2012. PMID: 22511506

7

IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population.

Brito LA, Bassi CF, Masotti C, Malcher C, Rocha KM, Schlesinger D, Bueno DF, Cruz LA, Barbara LK, Bertola DR, Meyer D, Franco D, Alonso N, Passos-Bueno MR. Brito LA, et al. Among authors: masotti c. Am J Med Genet A. 2012 Sep;158A(9):2170-5. doi: 10.1002/ajmg.a.35526. Epub 2012 Aug 6. Am J Med Genet A. 2012. PMID: 22887868

8

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. Among authors: masotti c. 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.

9

Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?

Silva AG, Krepischi AC, Torrezan GT, Capelli LP, Carraro DM, D'Angelo CS, Koiffmann CP, Zatz M, Naslavsky MS, Masotti C, Otto PA, Achatz MI, Mills RE, Lee C, Pearson PL, Rosenberg C. Silva AG, et al. Among authors: masotti c. Eur J Hum Genet. 2014 Mar;22(3):307-9. doi: 10.1038/ejhg.2013.134. Epub 2013 Jun 19. Eur J Hum Genet. 2014. PMID: 23778870 Free PMC article. No abstract available.

10

MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach.

Masotti C, Brito LA, Nica AC, Ludwig KU, Nunes K, Savastano CP, Malcher C, Ferreira SG, Kobayashi GS, Bueno DF, Alonso N, Franco D, Rojas-Martinez A, Dos Santos SE, Galante PA, Meyer D, Hünemeier T, Mangold E, Dermitzakis ET, Passos-Bueno MR. Masotti C, et al. J Dent Res. 2018 Jan;97(1):33-40. doi: 10.1177/0022034517735805. Epub 2017 Oct 20. J Dent Res. 2018. PMID: 29053389

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