Melaragno MI - Search Results

1

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. Among authors: melaragno mi. Hum Genet. 2016 Feb;135(2):185-92. doi: 10.1007/s00439-015-1622-x. Epub 2015 Dec 15. Hum Genet. 2016. PMID: 26670424

2

Hydrocephaly, penoscrotal transposition, and digital anomalies associated with de novo pseudodicentric rearranged chromosome 13 characterized by classical cytogenetic methods and mBAND analysis.

Christofolini DM, Yoshimoto M, Squire JA, Brunoni D, Melaragno MI, Carvalheira G. Christofolini DM, et al. Among authors: melaragno mi. Am J Med Genet A. 2006 Jun 15;140(12):1321-5. doi: 10.1002/ajmg.a.31269. Am J Med Genet A. 2006. PMID: 16691582

3

Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation.

de Carvalho AF, da Silva Bellucco FT, Kulikowski LD, Toralles MB, Melaragno MI. de Carvalho AF, et al. Among authors: melaragno mi. Hum Genet. 2008 Nov;124(4):387-92. doi: 10.1007/s00439-008-0557-x. Epub 2008 Sep 7. Hum Genet. 2008. PMID: 18777129

4

Cytogenetic molecular delineation of a terminal 18q deletion suggesting neo-telomere formation.

Kulikowski LD, Yoshimoto M, da Silva Bellucco FT, Belangero SI, Christofolini DM, Pacanaro AN, Bortolai A, Smith Mde A, Squire JA, Melaragno MI. Kulikowski LD, et al. Among authors: melaragno mi. Eur J Med Genet. 2010 Nov-Dec;53(6):404-7. doi: 10.1016/j.ejmg.2010.08.007. Epub 2010 Sep 15. Eur J Med Genet. 2010. PMID: 20837174 Free article.

5

Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14.

Guilherme RS, de Freitas Ayres Meloni V, Sodré CP, Christofolini DM, Pellegrino R, de Mello CB, Conlin LK, Hutchinson AL, Spinner NB, Brunoni D, Kulikowski LD, Melaragno MI. Guilherme RS, et al. Among authors: melaragno mi. Am J Med Genet A. 2010 Nov;152A(11):2865-9. doi: 10.1002/ajmg.a.33689. Am J Med Genet A. 2010. PMID: 20979193

6

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. Among authors: melaragno mi. Sex Dev. 2014;8(4):139-45. doi: 10.1159/000363779. Epub 2014 Jun 26. Sex Dev. 2014. PMID: 24970489

7

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome in an adolescent with complex chromosomal rearrangement and intellectual disability.

Oliveira MM, Meloni VA, Canonaco RS, Takeno SS, Bortolai A, de Mello CB, de Lima FT, Melaragno MI. Oliveira MM, et al. Among authors: melaragno mi. Am J Med Genet A. 2014 Oct;164A(10):2685-8. doi: 10.1002/ajmg.a.36690. Epub 2014 Jul 31. Am J Med Genet A. 2014. PMID: 25081192 No abstract available.

8

Duplication 9p and their implication to phenotype.

Guilherme RS, Meloni VA, Perez AB, Pilla AL, de Ramos MA, Dantas AG, Takeno SS, Kulikowski LD, Melaragno MI. Guilherme RS, et al. Among authors: melaragno mi. BMC Med Genet. 2014 Dec 20;15:142. doi: 10.1186/s12881-014-0142-1. BMC Med Genet. 2014. PMID: 25526829 Free PMC article.

9

19q13.33→qter trisomy in a girl with intellectual impairment and seizures.

Carvalheira G, Oliveira MM, Takeno S, Lima FT, Meloni VA, Melaragno MI. Carvalheira G, et al. Among authors: melaragno mi. Meta Gene. 2014 Oct 27;2:799-806. doi: 10.1016/j.mgene.2014.09.004. eCollection 2014 Dec. Meta Gene. 2014. PMID: 25606462 Free PMC article.

10

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. Among authors: melaragno mi. 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.

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