Publications by authors named "Milena Simioni"

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Demographic history differences between Hispanics and Brazilians imprint haplotype features.
Pedro Rodrigues Sousa da Cruz, Galina Ananina, Rodrigo Secolin, Vera Lúcia Gil-da-Silva-Lopes, Carmen Silvia Passos Lima, Milena Simioni

G3 (Bethesda)· July 2022

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Genetic comparison of sickle cell anaemia cohorts from Brazil and the United States reveals high levels of divergence.
Pedro R S Cruz, Galina Ananina, Vera Lucia Gil-da-Silva-Lopes, Milena Simioni, Farid Menaa

Sci Rep· July 2019

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Copy number variation in the susceptibility to systemic lupus erythematosus.
Fernanda Bueno Barbosa, Milena Simioni, Cláudia Emília Vieira Wiezel, Fábio Rossi Torres, Miriam Coelho Molck

PLoS One· April 2019

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A Pure 2-Mb 3q26.2 Duplication Proximal to the Critical Region of 3q Duplication Syndrome.
Miriam Coelho Molck, Milena Simioni, Társis Paiva Vieira, Fabíola Paoli Monteiro, Vera L Gil-da-Silva-Lopes

Mol Syndromol· July 2018

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A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis.
Milena Simioni, Isabella Lopes Monlleó, Camila M Costa de Queiroz, Ilanna Fragoso Peixoto Gazzaneo, Diogo L Lima do Nascimento

Sex Dev· November 2017

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Genomic imbalances in syndromic congenital heart disease.
Miriam Coelho Molck, Milena Simioni, Társis Paiva Vieira, Ilária Cristina Sgardioli, Fabíola Paoli Monteiro

J Pediatr (Rio J)· November 2017

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Ancestry Informative Marker Panel to Estimate Population Stratification Using Genome-wide Human Array.
Fernanda B Barbosa, Natalia F Cagnin, Milena Simioni, Allysson A Farias, Fábio R Torres

Ann Hum Genet· November 2017

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Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes.
Milena Simioni, François Artiguenave, Vincent Meyer, Ilária C Sgardioli, Nilma L Viguetti-Campos

Mol Syndromol· June 2017

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A New Case of the Rare 10q22.3q23.2 Microdeletion Flanked by Low-Copy Repeats 3/4.
Miriam Coelho Molck, Milena Simioni, Társis Paiva Vieira, Fabíola Paoli Monteiro, Vera L Gil-da-Silva-Lopes

Mol Syndromol· May 2017

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Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature.
Marshall I B Fontes, Ana P Santos, Miriam C Molck, Milena Simioni, Diogo L L Nascimento

Am J Med Genet A· March 2016

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Tetrasomy 3q26.32-q29 due to a supernumerary marker chromosome in a child with pigmentary mosaicism of Ito.
Karina S Cunha, Milena Simioni, Tarsis P Vieira, Vera L Gil-da-Silva-Lopes, Maria B Puzzi

Genet Mol Biol· March 2016

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A multicentric association study between 39 genes and nonsyndromic cleft lip and palate in a Brazilian population.
Tânia Kawasaki de Araujo, Rodrigo Secolin, Têmis Maria Félix, Liliane Todeschini de Souza, Marshall Ítalo Barros Fontes, Milena Simioni

J Craniomaxillofac Surg· January 2016

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De novo double reciprocal translocations in addition to partial monosomy at another chromosome: A very rare case.
Milena Simioni, Carlos Eduardo Steiner, Vera Lúcia Gil-da-Silva-Lopes

Gene· November 2015

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8p23.1 Interstitial Deletion in a Patient with Congenital Cardiopathy, Neurobehavioral Disorders, and Minor Signs Suggesting 22q11.2 Deletion Syndrome.
Miriam C Molck, Fabíola P Monteiro, Milena Simioni, Vera L Gil-da-Silva-Lopes

J Dev Behav Pediatr· September 2015

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22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening.
Ilária C Sgardioli, Társis P Vieira, Milena Simioni, Fabíola P Monteiro, Vera L Gil-da-Silva-Lopes

J Pediatr Genet· March 2015

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Distal 22q11.2 microduplication combined with typical 22q11.2 proximal deletion: a case report.
Miriam Coelho Molck, Társis Paiva Vieira, Milena Simioni, Ilária Cristina Sgardioli, Ana Paula dos Santos

Am J Med Genet A· January 2015

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Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation.
Milena Simioni, Tânia Kawasaki Araujo, Isabella Lopes Monlleo, Cláudia Vianna Maurer-Morelli, Vera Lúcia Gil-da-Silva-Lopes

J Hum Genet· January 2015

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Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.
Roberta Santos Guilherme, Karina Cunha Soares, Milena Simioni, Tarsis Paiva Vieira, Vera Lúcia Gil-da-Silva-Lopes

Am J Med Genet A· July 2014

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Atypical copy number abnormalities in 22q11.2 region: report of three cases.
Miriam Coelho Molck, Társis Paiva Vieira, Ilária Cristina Sgardioli, Milena Simioni, Ana Paula Dos Santos

Eur J Med Genet· September 2013

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A new case of partial 14q31.3-qter trisomy due to maternal pericentric inversion.
Ilária Cristina Sgardioli, Milena Simioni, Nilma Lúcia Viguetti-Campos, Joana Rosa Prota, Vera Lúcia Gil-da-Silva-Lopes

Gene· July 2013

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Partial monosomy 21 (q11.2→q21.3) combined with 3p25.3→pter monosomy due to an unbalanced translocation in a patient presenting dysmorphic features and developmental delay.
Ana Paula dos Santos, Társis Paiva Vieira, Milena Simioni, Fabíola Paoli Monteiro, Vera Lúcia Gil-da-Silva-Lopes

Gene· January 2013

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Preliminary Analysis of the Nonsynonymous Polymorphism rs17563 in BMP4 Gene in Brazilian Population Suggests Protection for Nonsyndromic Cleft Lip and Palate.
Tânia Kawasaki Araújo, Milena Simioni, Têmis Maria Félix, Liliane Todeschini de Souza, Marshall Ítalo Barros Fontes

Plast Surg Int· December 2012

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A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state.
Érika L Freitas, Susan M Gribble, Milena Simioni, Társis P Vieira, Elena Prigmore

Eur J Med Genet· November 2012

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Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia.
Milena Simioni, Társis Paiva Vieira, Ilária Cristina Sgardioli, Erika Lopes Freitas, Carla Rosenberg

Am J Med Genet A· November 2012

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Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization.
Érika L Freitas, Susan M Gribble, Milena Simioni, Társis P Vieira, Roseane L Silva-Grecco

Am J Med Genet A· November 2011

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