Publications by authors named "Maria Isabel Melaragno"

62Publications

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

Authors:
Victória Cabral Silveira Monteiro de Godoy Fernanda Teixeira Bellucco Mileny Colovati Hélio Rodrigues de Oliveira-Junior Mariana Moysés-Oliveira Maria Isabel Melaragno

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.

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November 2020

Lymphoproliferative disorder with polyautoimmunity and hypogammaglobulinemia: An unusual presentation of 22q11.2 deletion syndrome.

Authors:
Diogo C Soares Anelisa G Dantas Marina C Matta Antonio C Pastorino Maria Isabel Melaragno Leslie Kulikowski Marilia Montenegro Chong A Kim Magda Carneiro-Sampaio Leuridan C Torres

Clin Immunol 2020 Nov 11;220:108590. Epub 2020 Sep 11.

Translational Research Laboratory, Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Recife, PE, Brazil.

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November 2020

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

Authors:
Adriana Di-Battista Mariana Moysés-Oliveira Maria Isabel Melaragno

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

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

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October 2020

The Natural History of a Man With Ovotesticular 46,XX DSD Caused by a Novel 3-Mb 15q26.2 Deletion Containing Gene.

Authors:
Gianna Carvalheira Andrea M Malinverni Mariana Moysés-Oliveira Renata Ueta Leonardo Cardili Patrícia Monteagudo Andreia L G Mathez Ieda T Verreschi Miguel A Maluf Márcia E F Shida Mila T C Leite Diego Mazzotti Maria Isabel Melaragno Magnus R Dias-da-Silva

J Endocr Soc 2019 Nov 28;3(11):2107-2113. Epub 2019 Aug 28.

Department of Medicine, Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.

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November 2019

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

Authors:
Fernanda T Bellucco Claudia B de Mello Vera A Meloni Maria Isabel Melaragno

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.

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December 2019

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

Authors:
Malú Zamariolli Mileny Colovati Mariana Moysés-Oliveira Natália Nunes Leonardo Caires Dos Santos Ana B Alvarez Perez Silvia Bragagnolo Maria Isabel Melaragno

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.

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October 2019

Search for appropriate reference genes for quantitative reverse transcription PCR studies in somite, prosencephalon and heart of early mouse embryo.

Authors:
Mariana Moysés-Oliveira Victória Cabral Carolina Oliveira Gigek Débora Cabral de Carvalho Corrêa Adriana Di-Battista Taiza Stumpp Maria Isabel Melaragno

Gene 2019 Aug 2;710:148-155. Epub 2019 Jun 2.

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

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August 2019

DGCR2 influences cortical thickness through a mechanism independent of schizophrenia pathogenesis.

Authors:
Sintia Iole Belangero Vanessa Kiyomi Ota Ary Gadelha Arthur Almeida Berberian Idaiane Batista de Assunção-Leme Cristiano Noto Denise Maria Christofolini Fernanda Teixeira Bellucco Marcos Leite Santoro Diego Robles Mazzotti André Zugman Maria Isabel Melaragno Marilia Arruda Cardoso Smith Renata Pellegrino Hakon Hakonarson Quirino Cordeiro Patricia Natalia Moretti Rodrigo Affonseca Bressan Jair de Jesus Mari Andrea Parolin Jackowski

Psychiatry Res 2019 04 27;274:391-394. Epub 2019 Feb 27.

Laboratório Interdisciplinar de Neurociências Clínicas (LiNC), Departamento de Psiquiatria, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil; Departamento de Psiquiatria, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.

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April 2019

Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes.

Authors:
Mariana Moysés-Oliveira Adriana Di-Battista Malú Zamariolli Vera Ayres Meloni Silvia Bragagnolo Denise Maria Christofolini Carlos Eduardo Steiner Nadezda Kosyakova Thomas Liehr Alexandre Reymond Maria Isabel Melaragno

Eur J Hum Genet 2019 05 30;27(5):760-771. Epub 2019 Jan 30.

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

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May 2019

Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome.

Authors:
Anelisa Gollo Dantas Marcos Leite Santoro Natalia Nunes Claudia Berlim de Mello Larissa Salustiano Evangelista Pimenta Vera Ayres Meloni Diogo Cordeiro Queiroz Soares Sintia Nogueira Belangero Gianna Carvalheira Chong Ae Kim Maria Isabel Melaragno

Hum Genet 2019 Jan 9;138(1):93-103. Epub 2019 Jan 9.

Genetics Division, Universidade Federal de São Paulo, São Paulo, Brazil.

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January 2019

Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and Café-au-Lait Macules and Review of the Literature.

Authors:
Andréa C M Malinverni Érika M Yamashiro Coelho Kelin Chen Mileny E Colovati Mirlene C Soares Pinho Cernach Silvia Bragagnolo Maria Isabel Melaragno

Cytogenet Genome Res 2017 20;153(2):81-85. Epub 2017 Dec 20.

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

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February 2018

Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.

Authors:
Mariana Moysés-Oliveira Giuliana Giannuzzi Richard J Fish Jill A Rosenfeld Florence Petit Maria de Fatima Soares Leslie Domenici Kulikowski Adriana Di-Battista Malú Zamariolli Fan Xia Thomas Liehr Nadezda Kosyakova Gianna Carvalheira Michael Parker Eleanor G Seaby Sarah Ennis Rodney D Gilbert R Tanner Hagelstrom Maria L Cremona Wenhui L Li Alka Malhotra Anjana Chandrasekhar Denise L Perry Ryan J Taft Julie McCarrier Donald G Basel Joris Andrieux Taiza Stumpp Fernanda Antunes Gustavo José Pereira Marguerite Neerman-Arbez Vera Ayres Meloni Margaret Drummond-Borg Maria Isabel Melaragno Alexandre Reymond

Hum Mutat 2018 02 14;39(2):281-291. Epub 2017 Dec 14.

Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.

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February 2018

Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience.

Authors:
Évelin Aline Zanardo Roberta Lelis Dutra Flavia Balbo Piazzon Alexandre Torchio Dias Gil Monteiro Novo-Filho Amom Mendes Nascimento Marília Moreira Montenegro Jullian Gabriel Damasceno Fabrícia Andreia Rosa Madia Thaís Virgínia Moura Machado da Costa Maria Isabel Melaragno Chong Ae Kim Leslie Domenici Kulikowski

Clinics (Sao Paulo) 2017 Oct;72(9):526-537

Laboratorio de Citogenomica, Departamento de Patologia, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, SP, BR.

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October 2017

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

Authors:
Danielle Queiroz Calcagno Sylvia Santomi Takeno Carolina Oliveira Gigek Mariana Ferreira Leal Fernanda Wisnieski Elizabeth Suchi Chen Taíssa Maíra Thomaz Araújo Eleonidas Moura Lima Maria Isabel Melaragno Samia Demachki Paulo Pimentel Assumpção Rommel Rodriguez Burbano Marília Cardoso Smith

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.

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November 2016

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

Authors:
Adriana Di-Battista Vera Ayres Meloni Magnus Dias da Silva Mariana Moysés-Oliveira Maria Isabel Melaragno

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.

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December 2016

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

Authors:
Anelisa Gollo Dantas Adriana Bortolai Mariana Moysés-Oliveira Sylvia Takeno Herrero Adriana Azoubel Antunes Beatriz Tavares Costa-Carvalho Vera Ayres Meloni Maria Isabel Melaragno

Mol Syndromol 2016 Feb 14;6(5):242-7. Epub 2015 Nov 14.

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

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February 2016

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.

Authors:
Luiza Sisdelli Angela Cristina Vidi Mariana Moysés-Oliveira Adriana Di Battista Adriana Bortolai Danilo Moretti-Ferreira Magnus R Dias da Silva Maria Isabel Melaragno Gianna Carvalheira

Hum Genet 2016 Feb 15;135(2):185-92. Epub 2015 Dec 15.

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

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February 2016

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

Authors:
Roberta Santos Guilherme Mariana Moysés-Oliveira Anelisa Gollo Dantas Vera Ayres Meloni Mileny Esbravatti Colovati Leslie Domenici Kulikowski Maria Isabel Melaragno

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.

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May 2016

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

Authors:
Mariana Moysés-Oliveira Roberta Santos Guilherme Vera Ayres Meloni Adriana Di Battista Claudia Berlim de Mello Silvia Bragagnolo Danilo Moretti-Ferreira Nadezda Kosyakova Thomas Liehr Gianna Maria Carvalheira Maria Isabel Melaragno

Am J Med Genet B Neuropsychiatr Genet 2015 Dec 20;168(8):669-77. Epub 2015 Aug 20.

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

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December 2015

Terminal 18q deletions are stabilized by neotelomeres.

Authors:
Roberta Santos Guilherme Karen E Hermetz Patrícia Teixeira Varela Ana Beatriz Alvarez Perez Vera Ayres Meloni M Katharine Rudd Leslie Domenici Kulikowski Maria Isabel Melaragno

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.

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May 2015

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

Authors:
Mariana Moysés-Oliveira Roberta Dos Santos Guilherme Anelisa Gollo Dantas Renata Ueta Ana Beatriz Perez Mauro Haidar Rosane Canonaco Vera Ayres Meloni Nadezda Kosyakova Thomas Liehr Gianna Maria Carvalheira Maria Isabel Melaragno

Fertil Steril 2015 May 4;103(5):1289-96.e2. Epub 2015 Mar 4.

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

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May 2015

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

Authors:
Gianna Carvalheira Mariana Moysés Oliveira Sylvia Takeno Fernanda Teresa de Lima Vera Ayres Meloni Maria Isabel Melaragno

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.

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December 2014

Duplication 9p and their implication to phenotype.

Authors:
Roberta Santos Guilherme Vera Ayres Meloni Ana Beatriz Alvarez Perez Ana Luiza Pilla Marco Antonio Paula de Ramos Anelisa Gollo Dantas Sylvia Satomi Takeno Leslie Domenici Kulikowski Maria Isabel Melaragno

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.

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December 2014

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

Authors:
Vera Ayres Meloni Sylvia Satomi Takeno Ana Luiza Pilla Claudia Berlim de Mello Maria Isabel Melaragno Leslie Domenici Kulikowski

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.

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September 2014

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

Authors:
Mariana Moysés Oliveira Vera Ayres Meloni Rosane Seidler Canonaco Sylvia Satomi Takeno Adriana Bortolai Claudia Berlim de Mello Fernanda Teresa de Lima Maria Isabel Melaragno

Am J Med Genet A 2014 Oct 31;164A(10):2685-8. Epub 2014 Jul 31.

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

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October 2014

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

Authors:
Marcos Leite Santoro Camila Maurício Santos Vanessa Kiyomi Ota Ary Gadelha Roberta Sessa Stilhano Mariana Cepollaro Diana Patrícia Natália Silva Letícia Maria Nery Spíndola Maria Isabel Melaragno Rodrigo Affonseca Bressan Sang Won Han Vanessa Costhek Abílio Sintia Iole Belangero

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:

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November 2014

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

Authors:
Mariana Moysés-Oliveira Tatiane I Mancini Sylvia S Takeno Andressa D S Rodrigues Tania A S S Bachega Debora Bertola Maria Isabel Melaragno

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.

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April 2015

Cytogenomic delineation and clinical follow-up of two siblings with an 8.5 Mb 6q24.2-q25.2 deletion inherited from a paternal insertion.

Authors:
Vera Ayres Meloni Roberta Santos Guilherme Mariana Moyses Oliveira Michele Migliavacca Sylvia Satomi Takeno Nara Lygia Macena Sobreira Maria de Fatima Faria Soares Claudia Berlim de Mello Maria Isabel Melaragno

Am J Med Genet A 2014 Sep 4;164A(9):2378-84. Epub 2014 Jun 4.

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

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September 2014

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

Authors:
Marcos Leite Santoro Vanessa Kiyomi Ota Roberta Sessa Stilhano Patrícia Natália Silva Camila Maurício Santos Mariana Cepollaro Diana Ary Gadelha Rodrigo Affonseca Bressan Maria Isabel Melaragno Sang Won Han Vanessa Costhek Abílio Sintia Iole Belangero

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:

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August 2014

Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.

Authors:
Roberta Santos Guilherme Karina Cunha Soares Milena Simioni Tarsis Paiva Vieira Vera Lúcia Gil-da-Silva-Lopes Chong Ae Kim Décio Brunoni Nancy Bettina Spinner Laura Kathleen Conlin Denise Maria Christofolini Leslie Domenici Kulikowski Carlos Eduardo Steiner Maria Isabel Melaragno

Am J Med Genet A 2014 Jul 3;164A(7):1659-65. Epub 2014 Apr 3.

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

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July 2014

Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion.

Authors:
Michele P Migliavacca Nara L M Sobreira Graziela P M Antonialli Mariana M Oliveira Maria Isabel S A Melaragno Ingele Casteels Thomy de Ravel Decio Brunoni David Valle Ana Beatriz A Perez

Am J Med Genet A 2014 May 29;164A(5):1170-4. Epub 2014 Jan 29.

Clinical Genetics, Department of Morphology and Genetics, UNIFESP, São Paulo, Brazil.

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May 2014

Complex small supernumerary marker chromosomes - an update.

Authors:
Thomas Liehr Sanja Cirkovic Tanja Lalic Marija Guc-Scekic Cynthia de Almeida Jörg Weimer Ivan Iourov Maria Isabel Melaragno Roberta S Guilherme Eunice-Georgia G Stefanou Dilek Aktas Katharina Kreskowski Elisabeth Klein Monika Ziegler Nadezda Kosyakova Marianne Volleth Ahmed B Hamid

Mol Cytogenet 2013 31;6:46. Epub 2013 Oct 31.

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

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September 2014

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

Authors:
Vanessa Kiyomi Ota Cristiano Noto Ary Gadelha Marcos Leite Santoro Patricia Natalia Silva Maria Isabel Melaragno Marília de Arruda Cardoso Smith Quirino Cordeiro Rodrigo Affonseca Bressan Sintia Iole Belangero

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:

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December 2013

Is there an association between cortical thickness, age of onset, and duration of illness in schizophrenia?

Authors:
Idaiane Batista Assunção Leme Ary Gadelha João Ricardo Sato Vanessa Kiyomi Ota Jair de Jesus Mari Maria Isabel Melaragno Marilia de Arruda Cardoso Smith Sintia Iole Nogueira Belangero Rodrigo Affonseca Bressan Andrea Parolin Jackowski

CNS Spectr 2013 Dec 6;18(6):315-21. Epub 2013 Jun 6.

1 Laboratório Interdisciplinar de Neurociências Clínicas (LiNC), Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.

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December 2013

Spinal muscular atrophy due to a "de novo" 1.3 Mb deletion: implication for genetic counseling.

Authors:
Luciana Rodrigues Jacy da Silva Mileny Esbravatti Stephano Colovati Bruno Coprerski Carlos Eugênio Fernandez de Andrade Edmar Zanoteli Salmo Raskin Mariana Moysés Oliveira Maria Isabel Melaragno Ana Beatriz Alvarez Perez

Neuromuscul Disord 2013 May 1;23(5):388-90. Epub 2013 Mar 1.

Medical Genetics Center, Department of Morphology and Genetics, Federal University of São Paulo, São Paulo, Brazil.

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May 2013

Candidate genes for schizophrenia in a mixed Brazilian population using pooled DNA.

Authors:
Vanessa Kiyomi Ota Ary Gadelha Renata Pellegrino Marcos Leite Santoro Fernanda Teixeira Bellucco Denise Maria Christofolini Gustavo Lima Ottoni Diogo Rizzato Lara Andrea Kely Ribeiro-Dos-Santos Sidney Santos Jair Jesus Mari Gerome Breen Marília Arruda Cardoso Smith Rodrigo Affonseca Bressan Maria Isabel Melaragno Sintia Iole Belangero

Psychiatry Res 2013 Jul 16;208(2):201-2. Epub 2013 Feb 16.

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July 2013

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

Authors:
Ary Gadelha Vanessa Kiyomi Ota Jose Paya Cano Maria Isabel Melaragno Marilia A C Smith Jair de Jesus Mari Rodrigo A Bressan Sintia Iole Belangero Gerome Breen

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.

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July 2013

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

Authors:
Roberta Santos Guilherme Chong Ae Kim Luis Garcia Alonso Rachel S Honjo Vera Ayres Meloni Denise Maria Christofolini Leslie Domenici Kulikowski Maria Isabel Melaragno

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.

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February 2013

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

Authors:
Roberta Santos Guilherme Elisabeth Klein Claudia Venner Ahmed B Hamid Samarth Bhatt Maria Isabel Melaragno Marianne Volleth Anna Polityko Anna Kulpanovich Nadezda Kosyakova Thomas Liehr

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.

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October 2012

DRD1 rs4532 polymorphism: a potential pharmacogenomic marker for treatment response to antipsychotic drugs.

Authors:
Vanessa Kiyomi Ota Letícia Nery Spíndola Ary Gadelha Airton Ferreira dos Santos Filho Marcos Leite Santoro Denise Maria Christofolini Fernanda Teixeira Bellucco Ândrea Kely Ribeiro-dos-Santos Sidney Santos Jair de Jesus Mari Maria Isabel Melaragno Rodrigo Affonseca Bressan Marilia de Arruda Cardoso Smith Sintia Iole Belangero

Schizophr Res 2012 Dec 1;142(1-3):206-8. Epub 2012 Oct 1.

Disciplina de Genética, Departamento de Morfologia e Genética, Universidade Federal de Sao Paulo (UNIFESP), São Paulo, Brazil.

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December 2012

Role of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5 Mb deletion in 22q11.2 region.

Authors:
Diogo Cordeiro de Queiroz Soares Roberta Lelis Dutra Caio Robledo D'angioli Costa Quaio Maria Isabel Melaragno Leslie Domenici Kulikowski Leuridan Cavalcante Torres Chong Ae Kim

Clin Immunol 2012 Oct 6;145(1):55-8. Epub 2012 Aug 6.

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October 2012

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

Authors:
Denise Maria Christofolini Vera Ayres Meloni Marco Antonio de Paula Ramos Mariana Moysés Oliveira Claudia Berlim de Mello Renata Pellegrino Sylvia Satomi Takeno Maria Isabel Melaragno

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.

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October 2012

Severe phenotype in MPS II patients associated with a large deletion including contiguous genes.

Authors:
Ana Carolina Brusius-Facchin Carolina Fischinger Moura De Souza Ida Vanessa D Schwartz Mariluce Riegel Maria Isabel Melaragno Patrícia Correia Lúcia Marques Moraes Juan Llerena Roberto Giugliani Sandra Leistner-Segal

Am J Med Genet A 2012 May 10;158A(5):1055-9. Epub 2012 Apr 10.

Medical Genetics Service, Hospital de Clínicas, Porto Alegre, RS, Brazil.

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May 2012

Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype.

Authors:
Vera de Freitas Ayres Meloni Flavia Balbo Piazzon Maria de Fátima de Faria Soares Sylvia Satomi Takeno Denise Maria Christofolini Leslie Domenici Kulikowski Decio Brunoni Maria Isabel Melaragno

Gene 2012 Mar 20;496(1):59-62. Epub 2012 Jan 20.

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

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March 2012

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

Authors:
Ana Rosa S Costa Sintia I Belangero Maria Isabel Melaragno Maria de Lourdes Chauffaille

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.

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September 2012

Cytogenetic instability of dental pulp stem cell lines.

Authors:
Monica Talarico Duailibi Leslie Domenici Kulikowski Silvio Eduardo Duailibi Monica Vannucci Nunes Lipay Maria Isabel Melaragno Lydia Masako Ferreira Joseph Phillip Vacanti Pamela Crotty Yelick

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.

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February 2012

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

Authors:
Roberta Santos Guilherme Vera de Freitas Ayres Meloni Claudete Palmer Sodré Denise Maria Christofolini Renata Pellegrino Claudia Berlim de Mello Laura Kathleen Conlin Anne Lawlor Hutchinson Nancy Bettina Spinner Decio Brunoni Leslie Domenici Kulikowski Maria Isabel Melaragno

Am J Med Genet A 2010 Nov;152A(11):2865-9

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

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November 2010

Investigating 22q11.2 deletion and other chromosomal aberrations in fetuses with heart defects detected by prenatal echocardiography.

Authors:
Fernanda Teixeira da Silva Bellucco Sintia Iole Nogueira Belangero Leila Montenegro Silveira Farah Maria Virgínia Lima Machado Adriano Pastor Cruz Lílian Maria Lopes Marco Antonio Borges Lopes Marcelo Zugaib Mirlene Cecília Cernach Maria Isabel Melaragno

Pediatr Cardiol 2010 Nov 17;31(8):1146-50. Epub 2010 Sep 17.

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

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November 2010

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

Authors:
Leslie Domenici Kulikowski Maisa Yoshimoto Fernanda Teixeira da Silva Bellucco Sintia Iole Nogueira Belangero Denise Maria Christofolini Ade Nubia Xavier Pacanaro Adriana Bortolai Marilia de Arruda Cardoso Smith Jeremy A Squire Maria Isabel Melaragno

Eur J Med Genet 2010 Nov-Dec;53(6):404-7. Epub 2010 Sep 15.

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

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June 2011

Trisomy 16q21 --> qter: Seven-year follow-up of a girl with unusually long survival.

Authors:
Acácia Fernandes Lacerda de Carvalho Fernanda Teixeira da Silva Bellucco Normeide Pedreira dos Santos Renata Pellegrino Lília Maria de Azevedo Moreira Maria Betania Pereira Toralles Leslie Domenici Kulikowski Maria Isabel Melaragno

Am J Med Genet A 2010 Aug;152A(8):2074-8

Laboratory of Human Genetics and Mutagenesis, Department of General Biology, Universidade Federal da Bahia, Salvador, Bahia, Brazil.

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August 2010

The UFD1L rs5992403 polymorphism is associated with age at onset of schizophrenia.

Authors:
Vanessa Kiyomi Ota Sintia Iole Belangero Ary Gadelha Fernanda Teixeira Bellucco Denise Maria Christofolini Tatiane Iris Mancini Andrea Kelly Ribeiro-dos-Santos Sidney Emanuel Santos Jair de Jesus Mari Rodrigo Affonseca Bressan Maria Isabel Melaragno Marilia de Arruda Cardoso Smith

J Psychiatr Res 2010 Nov 14;44(15):1113-5. Epub 2010 May 14.

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November 2010

A rare case of trisomy 15pter-q21.2 due to a de novo marker chromosome.

Authors:
Ade Nubia Xavier Pacanaro Denise Maria Christofolini Leslie Domenici Kulikowski Sintia Iole Nogueira Belangero Fernanda Teixeira da Silva Bellucco Monica C Varela Celia P Koiffmann Maisa Yoshimoto Jeremy A Squire Adriana V Schiavon Benjamin Heck Maria Isabel Melaragno

Am J Med Genet A 2010 Mar;152A(3):753-8

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

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March 2010

Evaluation of clinical checklists for fragile X syndrome screening in Brazilian intellectually disabled males: proposal for a new screening tool.

Authors:
Denise M Christofolini Eduardo M Abbud Monica V N Lipay Silvia S Costa Angela M Vianna-Morgante Fernanda T S Bellucco Sintia I Nogueira Leslie D Kulikowski Décio Brunoni Yára Juliano Marco A P Ramos Maria Isabel Melaragno

J Intellect Disabil 2009 Sep;13(3):239-48

Universidade Federal de São Paulo, São Paulo, Brazil.

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September 2009

Interrupted aortic arch type B in A patient with cat eye syndrome.

Authors:
Sintia Iole Nogueira Belangero Fernanda Teixeira da Silva Bellucco Mirlene C S P Cernach April M Hacker Beverly S Emanuel Maria Isabel Melaragno

Arq Bras Cardiol 2009 May;92(5):e29-31, e56-8

Universidade Federal de São Paulo, São Paulo, SP, Brasil.

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May 2009

22q11.2 deletion in patients with conotruncal heart defect and del22q syndrome phenotype.

Authors:
Sintia Iole Nogueira Belangero Fernanda T S Bellucco Leslie Domenici Kulikowski Denise M Christofolini Mirlene C S P Cernach Maria Isabel Melaragno

Arq Bras Cardiol 2009 Apr;92(4):307-11

Universidade Federal de São Paulo, Rua Botucatu 740, Vila Clementino, São Paulo, SP, Brazil.

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April 2009

Pure duplication 1q41-qter: further delineation of trisomy 1q syndromes.

Authors:
Leslie Domenici Kulikowski Fernanda T S Bellucco Sintia I Nogueira Denise M Christofolini Marilia de A C Smith Claudia B de Mello Decio Brunoni Maria Isabel Melaragno

Am J Med Genet A 2008 Oct;146A(20):2663-7

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

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October 2008

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

Authors:
Acácia Fernandes Lacerda de Carvalho Fernanda Teixeira da Silva Bellucco Leslie Domenici Kulikowski Maria Betânia Pereira Toralles Maria Isabel Melaragno

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.

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November 2008

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

Authors:
Sintia Iole Nogueira April M Hacker Fernanda T S Bellucco Denise M Christofolini Leslie Domenici Kulikowski Mirlene C S P Cernach Beverly S Emanuel Maria Isabel Melaragno

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.

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August 2008

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

Authors:
Sintia Iole Nogueira April M Hacker Fernanda T S Bellucco Leslie Domenici Kulikowski Denise Maria Christofolini Mirlene C Cernach Maria Isabel Melaragno Beverly S Emanuel

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.

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August 2007

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

Authors:
Bianca Bianco Mônica Vannucci Nunes Lipay Maria Isabel Melaragno Alexis Dourado Guedes Ieda T N Verreschi

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

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

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September 2006

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

Authors:
Denise Maria Christofolini Maisa Yoshimoto Jeremy A Squire Décio Brunoni Maria Isabel Melaragno Gianna Carvalheira

Am J Med Genet A 2006 Jun;140(12):1321-5

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

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June 2006

Identification of a neocentromere in a rearranged Y chromosome with no detectable DYZ3 centromeric sequence.

Authors:
Juliana Godoy Assumpção Windy Berkofsky-Fessler Nilma Viguetti Campos Andréa Trevas Maciel-Guerra Shulan Li Maria Isabel Melaragno Maricilda Palandi de Mello Peter E Warburton

Am J Med Genet 2002 Dec;113(3):263-7

Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Campinas, SP, Brazil.

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December 2002