Vianna-Morgante AM - Search Results

1

Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes.

Costa CIS, da Silva Montenegro EM, Zarrei M, de Sá Moreira E, Silva IMW, de Oliveira Scliar M, Wang JYT, Zachi EC, Branco EV, da Costa SS, Lourenço NCV, Vianna-Morgante AM, Rosenberg C, Krepischi ACV, Scherer SW, Passos-Bueno MR. Costa CIS, et al. Among authors: vianna morgante am. Clin Genet. 2022 Jan;101(1):134-141. doi: 10.1111/cge.14072. Epub 2021 Nov 15. Clin Genet. 2022. PMID: 34664255

2

FMR1 premutation in children with autism spectrum disorders: Should additional diagnostic tests be performed?

Girardi ACS, van Opstal Takahashi VN, Vadasz E, Costa CIS, Zachi EC, Vianna-Morgante AM, Passos-Bueno MR. Girardi ACS, et al. Among authors: vianna morgante am. Am J Med Genet A. 2022 Apr;188(4):1334-1337. doi: 10.1002/ajmg.a.62624. Epub 2022 Jan 3. Am J Med Genet A. 2022. PMID: 34981645 No abstract available.

3

10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly.

Oliveira D, Leal GF, Sertié AL, Caires LC Jr, Goulart E, Musso CM, Oliveira JRM, Krepischi ACV, Vianna-Morgante AM, Zatz M. Oliveira D, et al. J Med Genet. 2019 Aug;56(8):543-547. doi: 10.1136/jmedgenet-2018-105471. Epub 2018 Oct 9. J Med Genet. 2019. PMID: 30301738

4

Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing.

Villela D, de Barros JS, da Costa SS, Aguiar TFM, Campagnari F, Vianna-Morgante AM, Krepischi ACV, Rosenberg C. Villela D, et al. Ann Hum Genet. 2021 Jan;85(1):18-26. doi: 10.1111/ahg.12402. Epub 2020 Aug 6. Ann Hum Genet. 2021. PMID: 32761927

5

Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses.

Villela D, Mazzonetto PC, Migliavacca MP, Perrone E, Guida G, Milanezi MFG, Jorge AAL, Ribeiro-Bicudo LA, Kok F, Campagnari F, de Rosso-Giuliani L, da Costa SS, Vianna-Morgante AM, Pearson PL, Krepischi ACV, Rosenberg C. Villela D, et al. Among authors: vianna morgante am. Am J Med Genet A. 2021 Aug;185(8):2335-2344. doi: 10.1002/ajmg.a.62237. Epub 2021 May 14. Am J Med Genet A. 2021. PMID: 33988290

6

Investigating Genetic Factors Contributing to Variable Expressivity of Class I 17p13.3 Microduplication.

Tolezano GC, da Costa SS, Scliar MO, Fernandes WLM, Otto PA, Bertola DR, Rosenberg C, Vianna-Morgante AM, Krepischi ACV. Tolezano GC, et al. Among authors: vianna morgante am. Int J Mol Cell Med. 2020 Fall;9(4):296-306. doi: 10.22088/IJMCM.BUMS.9.4.296. Epub 2021 Jan 27. Int J Mol Cell Med. 2020. PMID: 33688487 Free PMC article.

7

An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome.

Jehee FS, Rosenberg C, Krepischi-Santos AC, Kok F, Knijnenburg J, Froyen G, Vianna-Morgante AM, Opitz JM, Passos-Bueno MR. Jehee FS, et al. Am J Med Genet A. 2005 Dec 15;139(3):221-6. doi: 10.1002/ajmg.a.30991. Am J Med Genet A. 2005. PMID: 16283679

8

An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses.

Jehee FS, Bertola DR, Yelavarthi KK, Krepischi-Santos AC, Kim C, Vianna-Morgante AM, Vermeesch JR, Passos-Bueno MR. Jehee FS, et al. Am J Med Genet A. 2007 Aug 15;143A(16):1912-8. doi: 10.1002/ajmg.a.31863. Am J Med Genet A. 2007. PMID: 17632770

9

Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting.

Villela D, Costa SS, Vianna-Morgante AM, Krepischi ACV, Rosenberg C. Villela D, et al. Eur J Med Genet. 2017 Dec;60(12):667-674. doi: 10.1016/j.ejmg.2017.08.020. Epub 2017 Sep 4. Eur J Med Genet. 2017. PMID: 28882788

10

Chromosome imbalances in syndromic hearing loss.

Catelani AL, Krepischi AC, Kim CA, Kok F, Otto PA, Auricchio MT, Mazzeu JF, Uehara DT, Costa SS, Knijnenburg J, Tabith A Jr, Vianna-Morgante AM, Mingroni-Netto RC, Rosenberg C. Catelani AL, et al. Clin Genet. 2009 Nov;76(5):458-64. doi: 10.1111/j.1399-0004.2009.01276.x. Epub 2009 Oct 6. Clin Genet. 2009. PMID: 19807740

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