Publications by authors named "Maria Isabel Melaragno"

62Publications

Copy number variation (CNV) identification, interpretation, and database from Brazilian patients.

Genet Mol Biol 2020 13;43(4):e20190218. Epub 2020 Nov 13.

Universidade Federal de São Paulo, Departamento de Morfologia e Genética, Disciplina de Genética, São Paulo, SP, Brazil.

View Article and Find Full Text PDF
November 2020

Genetics of premature ovarian insufficiency and the association with X-autosome translocations.

Reproduction 2020 10;160(4):R55-R64

Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.

View Article and Find Full Text PDF
October 2020

Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature.

Mol Genet Genomic Med 2019 12 1;7(12):e997. Epub 2019 Oct 1.

Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.

View Article and Find Full Text PDF
December 2019

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

Mol Genet Genomic Med 2019 10 30;7(10):e00959. Epub 2019 Aug 30.

Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.

View Article and Find Full Text PDF
October 2019

Identification of and amplification in gastric cancer by comprehensive genomic profiling of gastric cancer cell lines.

World J Gastroenterol 2016 Nov;22(43):9506-9514

Danielle Queiroz Calcagno, Sylvia Santomi Takeno, Carolina Oliveira Gigek, Mariana Ferreira Leal, Fernanda Wisnieski, Elizabeth Suchi Chen, Maria Isabel Melaragno, Marília Cardoso Smith, Disciplina de Genética, Departamento de Morfologia e Genética, Universidade Federal de São Paulo, São Paulo, SP 04021-001, Brazil.

View Article and Find Full Text PDF
November 2016

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

Am J Med Genet A 2016 12 8;170(12):3271-3275. Epub 2016 Sep 8.

Division of Genetics, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.

View Article and Find Full Text PDF
December 2016

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

J Appl Genet 2016 May 28;57(2):183-7. Epub 2015 Aug 28.

Department of Morphology and Genetics, Universidade Federal de São Paulo, Rua Botucatu, 740, 04023-900, São Paulo, Brazil.

View Article and Find Full Text PDF
May 2016

Terminal 18q deletions are stabilized by neotelomeres.

Mol Cytogenet 2015 13;8:32. Epub 2015 May 13.

Department of Morphology and Genetics, Universidade Federal de São Paulo, Rua Botucatu 740, CEP 04023-900, São Paulo, Brazil.

View Article and Find Full Text PDF
May 2015

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

Meta Gene 2014 Dec 27;2:799-806. Epub 2014 Oct 27.

Universidade Federal de São Paulo - UNIFESP, Department of Morphology and Genetics, São Paulo, Brazil.

View Article and Find Full Text PDF
December 2014

Duplication 9p and their implication to phenotype.

BMC Med Genet 2014 Dec 20;15:142. Epub 2014 Dec 20.

Department of Morphology and Genetics, Universidade Federal de São Paulo, Rua Botucatu 740, CEP, 04023-900, São Paulo, Brazil.

View Article and Find Full Text PDF
December 2014

Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up.

Mol Cytogenet 2014 22;7:57. Epub 2014 Aug 22.

Department of Pathology, Cytogenomics Lab, LIM 03, Universidade de São Paulo, Av. Dr. Enéas de Carvalho Aguiar, 155, 2° andar, bloco 12, sala 7, São Paulo, SP, Brazil ; Human Reproduction and Genetics Center, Department of Collective Health, Faculdade de Medicina do ABC, Santo André, SP, Brazil.

View Article and Find Full Text PDF
September 2014

Expression profile of neurotransmitter receptor and regulatory genes in the prefrontal cortex of spontaneously hypertensive rats: relevance to neuropsychiatric disorders.

Psychiatry Res 2014 Nov 5;219(3):674-9. Epub 2014 Jun 5.

Genetics Division, Department of Morphology and Genetics, Federal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil; Interdisciplinary Laboratory of Clinical Neurosciences (LiNC), Sao Paulo, Brazil; Department of Psychiatry, Federal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. Electronic address:

View Article and Find Full Text PDF
November 2014

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

Sex Dev 2014 26;8(4):139-45. Epub 2014 Jun 26.

Disciplina de Genética, Departamento de Morfologia e Genética, Universidade Federal de São Paulo, São Paulo, Brazil.

View Article and Find Full Text PDF
April 2015

Effect of antipsychotic drugs on gene expression in the prefrontal cortex and nucleus accumbens in the spontaneously hypertensive rat (SHR).

Schizophr Res 2014 Aug 2;157(1-3):163-8. Epub 2014 Jun 2.

Genetics Division, Department of Morphology and Genetics, Universidade Federal de Sao Paulo (UNIFESP), Rua Botucatu, 740, Edifício Leitao da Cunha, 1° andar, CEP 04023-900 São Paulo, Brazil; LiNC - Interdisciplinary Lab of Clinical Neurosciences, Department of Psychiatry, UNIFESP, Rua Pedro de Toledo, 669, 3° floor, CEP 05039-032 São Paulo, Brazil. Electronic address:

View Article and Find Full Text PDF
August 2014

Neurotransmitter receptor and regulatory gene expression in peripheral blood of Brazilian drug-naïve first-episode psychosis patients before and after antipsychotic treatment.

Psychiatry Res 2013 Dec 7;210(3):1290-2. Epub 2013 Oct 7.

Disciplina de Genética, Departamento de Morfologia e Genética, Universidade Federal de Sao Paulo (UNIFESP), Rua Botucatu, 740, Edifício Leitao da Cunha, 1° andar, CEP 04023-900, São Paulo, Brazil; LiNC-Laboratório Interdisciplinar de Neurociências Clínicas, Departamento de Psiquiatria, Universidade Federal de Sao Paulo (UNIFESP), Rua Pedro de Toledo, 669, 3° andar fundos, CEP 05039-032, São Paulo, Brazil. Electronic address:

View Article and Find Full Text PDF
December 2013

Linkage replication for chromosomal region 13q32 in schizophrenia: evidence from a Brazilian pilot study on early onset schizophrenia families.

PLoS One 2012 31;7(12):e52262. Epub 2012 Dec 31.

Interdisciplinary Lab of Clinical Neurosciences (LiNC), and Schizophrenia Program (PROESQ), Department of Psychiatry, Universidade Federal de Sao Paulo (UNIFESP), São Paulo, Brazil.

View Article and Find Full Text PDF
July 2013

Ring chromosome 10: report on two patients and review of the literature.

J Appl Genet 2013 Feb 18;54(1):35-41. Epub 2012 Dec 18.

Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, Rua Botucatu 740, CEP 04023-900, São Paulo, Brazil.

View Article and Find Full Text PDF
February 2013

Human ring chromosomes and small supernumerary marker chromosomes-do they have telomeres?

Chromosome Res 2012 Oct 18;20(7):825-35. Epub 2012 Oct 18.

Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Kollegiengasse 10, 07743, Jena, Germany.

View Article and Find Full Text PDF
October 2012

Autistic disorder phenotype associated to a complex 15q intrachromosomal rearrangement.

Am J Med Genet B Neuropsychiatr Genet 2012 Oct 22;159B(7):823-8. Epub 2012 Aug 22.

Genetics Division, Department of Gynecology and Obstetrics, Faculdade de Medicina do ABC (1) (FMABC), São Paulo, Brazil.

View Article and Find Full Text PDF
October 2012

Additional chromosomal abnormalities detected by array comparative genomic hybridization in AML.

Med Oncol 2012 Sep 25;29(3):2083-7. Epub 2011 Nov 25.

Division of Hematology and Hemotherapy, UNIFESP/Escola Paulista de Medicina, Rua Botucatu740, 3º andar, São Paulo CEP: 04023-900, Brazil.

View Article and Find Full Text PDF
September 2012

Cytogenetic instability of dental pulp stem cell lines.

J Mol Histol 2012 Feb 23;43(1):89-94. Epub 2011 Nov 23.

Department of Plastic Surgery, Federal University of São Paulo, UNIFESP CTCMol, Center of Cellular and Molecular Therapy, São Paulo, Brazil.

View Article and Find Full Text PDF
February 2012

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

Hum Genet 2008 Nov 7;124(4):387-92. Epub 2008 Sep 7.

Department of Morphology and Genetics, Universidade Federal de São Paulo, Rua Botucatu 740, CEP 04023-900, São Paulo, SP, Brazil.

View Article and Find Full Text PDF
November 2008

Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum.

Eur J Med Genet 2008 May-Jun;51(3):226-30. Epub 2008 Feb 8.

Disciplina de Genética, Departamento de Morfologia e Genética, Universidade Federal de São Paulo, Rua Botucatu 740, São Paulo, SP 04023-900, Brazil.

View Article and Find Full Text PDF
August 2008

Deletion 22q11.2: report of a complex meiotic mechanism of origin.

Am J Med Genet A 2007 Aug;143A(15):1778-81

Disciplina de Genética, Departamento de Morfologia, Universidade Federal de São Paulo, São Paulo, SP, Brazil.

View Article and Find Full Text PDF
August 2007

Detection of hidden Y mosaicism in Turner's syndrome: importance in the prevention of gonadoblastoma.

J Pediatr Endocrinol Metab 2006 Sep;19(9):1113-7

Division of Endocrinology, Department of Medicine, Universidade Federal de São Paulo, São Paulo, Brazil.

View Article and Find Full Text PDF
September 2006