Moysés-Oliveira M - Search Results

1

Rare single-nucleotide variants in oculo-auriculo-vertebral spectrum (OAVS).

Zamariolli M, Colovati M, Moysés-Oliveira M, Nunes N, Caires Dos Santos L, Alvarez Perez AB, Bragagnolo S, Melaragno MI. Zamariolli M, et al. Mol Genet Genomic Med. 2019 Oct;7(10):e00959. doi: 10.1002/mgg3.959. Epub 2019 Aug 30. Mol Genet Genomic Med. 2019. PMID: 31469246 Free PMC article.

2

Different conformation of two supernumerary 18p isochromosomes, one with a concomitant partial 18q trisomy.

Noronha Dutra AR, Mancini TI, Satomi Takeno S, Moysés Oliveira M, Kim CA, Alvarez Perez AB, Domenici Kulikowski L, Melaragno MI. Noronha Dutra AR, et al. Cytogenet Genome Res. 2012;138(1):1-4. doi: 10.1159/000339566. Epub 2012 Jul 10. Cytogenet Genome Res. 2012. PMID: 22796746

3

Congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome due to a 6p deletion.

Moysés-Oliveira M, Mancini TI, Takeno SS, Rodrigues AD, Bachega TA, Bertola D, Melaragno MI. Moysés-Oliveira M, et al. Sex Dev. 2014;8(4):139-45. doi: 10.1159/000363779. Epub 2014 Jun 26. Sex Dev. 2014. PMID: 24970489

4

Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocations.

Moysés-Oliveira M, Guilherme Rdos S, Dantas AG, Ueta R, Perez AB, Haidar M, Canonaco R, Meloni VA, Kosyakova N, Liehr T, Carvalheira GM, Melaragno MI. Moysés-Oliveira M, et al. Fertil Steril. 2015 May;103(5):1289-96.e2. doi: 10.1016/j.fertnstert.2015.01.030. Epub 2015 Mar 4. Fertil Steril. 2015. PMID: 25747126 Free article.

5

Novel homozygous ALX4 mutation causing frontonasal dysplasia-2 in a patient with meningoencephalocele.

Meloni VA, Moysés-Oliveira M, Melo MC, Caneloi TP, Dantas AG, Soares MF, Fock R, Rodrigues de Nicola PD, Dias-da-Silva MR, Melaragno MI. Meloni VA, et al. Clin Genet. 2015 Dec;88(6):593-6. doi: 10.1111/cge.12595. Epub 2015 May 11. Clin Genet. 2015. PMID: 25963140 No abstract available.

6

X-linked intellectual disability related genes disrupted by balanced X-autosome translocations.

Moysés-Oliveira M, Guilherme RS, Meloni VA, Di Battista A, de Mello CB, Bragagnolo S, Moretti-Ferreira D, Kosyakova N, Liehr T, Carvalheira GM, Melaragno MI. Moysés-Oliveira M, et al. Am J Med Genet B Neuropsychiatr Genet. 2015 Dec;168(8):669-77. doi: 10.1002/ajmg.b.32355. Epub 2015 Aug 20. Am J Med Genet B Neuropsychiatr Genet. 2015. PMID: 26290131

7

Position effect modifying gene expression in a patient with ring chromosome 14.

Guilherme RS, Moysés-Oliveira M, Dantas AG, Meloni VA, Colovati ME, Kulikowski LD, Melaragno MI. Guilherme RS, et al. J Appl Genet. 2016 May;57(2):183-7. doi: 10.1007/s13353-015-0311-8. Epub 2015 Aug 28. J Appl Genet. 2016. PMID: 26315457

8

Incorporation of 5-ethynyl-2'-deoxyuridine (EdU) as a novel strategy for identification of the skewed X inactivation pattern in balanced and unbalanced X-rearrangements.

Sisdelli L, Vidi AC, Moysés-Oliveira M, Di Battista A, Bortolai A, Moretti-Ferreira D, da Silva MR, Melaragno MI, Carvalheira G. Sisdelli L, et al. Hum Genet. 2016 Feb;135(2):185-92. doi: 10.1007/s00439-015-1622-x. Epub 2015 Dec 15. Hum Genet. 2016. PMID: 26670424

9

22q11.2 Deletion Syndrome due to a Translocation t(6;22) in a Patient Conceived via in vitro Fertilization.

Gollo Dantas A, Bortolai A, Moysés-Oliveira M, Takeno Herrero S, Azoubel Antunes A, Tavares Costa-Carvalho B, Ayres Meloni V, Melaragno MI. Gollo Dantas A, et al. Mol Syndromol. 2016 Feb;6(5):242-7. doi: 10.1159/000441243. Epub 2015 Nov 14. Mol Syndromol. 2016. PMID: 26997945 Free PMC article.

10

Unusual X-chromosome inactivation pattern in patients with Xp11.23-p11.22 duplication: Report and review.

Di-Battista A, Meloni VA, da Silva MD, Moysés-Oliveira M, Melaragno MI. Di-Battista A, et al. Am J Med Genet A. 2016 Dec;170(12):3271-3275. doi: 10.1002/ajmg.a.37888. Epub 2016 Sep 8. Am J Med Genet A. 2016. PMID: 27605428 Review.

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