Maria Isabel Melaragno (M I Melaragno)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 19

Top Venues

American journal of medical genetics. Part A

Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology

Universidade Federal de São Paulo

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Universidade Federal de São Paulo

Brazil

Full Professor

Publications

Henrique Garcia Silveira, Carlos Eduardo Steiner, Giovana Toccoli, Luise Longo Angeloni, Júlia Lôndero Heleno, Samira Spineli-Silva, Ana Mondadori Dos Santos, Társis Antonio Paiva Vieira, Maria Isabel Melaragno, Vera Lúcia Gil-da-Silva-Lopes
Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome. Genes 15 (2) (2024)
Natalia Nunes, Beatriz Carvalho Nunes, Malú Zamariolli, Diogo Cordeiro de Queiroz Soares, Leonardo Caires Dos Santos, Anelisa Gollo Dantas, Vera Ayres Meloni, Sintia Nogueira Belangero, Vera Lúcia Gil-da-Silva-Lopes, Chong Ae Kim, Maria Isabel Melaragno
Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome. Genetics research 2024 (2024)
Henrique Garcia Silveira, Carlos Eduardo Steiner, Giovana Toccoli, Luise Longo Angeloni, Júlia Lôndero Heleno, Samira Spineli-Silva, Ana Mondadori Dos Santos, Társis Antonio Paiva Vieira, Maria Isabel Melaragno, Vera Lúcia Gil-da-Silva-Lopes
Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome. Genes 15 (2) (2024)
Henrique Garcia Silveira, Carlos Eduardo Steiner, Giovana Toccoli, Luise Longo Angeloni, Júlia Lôndero Heleno, Samira Spineli-Silva, Ana Mondadori Dos Santos, Társis Antonio Paiva Vieira, Maria Isabel Melaragno, Vera Lúcia Gil-da-Silva-Lopes
Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome. Genes 15 (2) (2024)
Natalia Nunes, Beatriz Carvalho Nunes, Malú Zamariolli, Diogo Cordeiro de Queiroz Soares, Leonardo Caires Dos Santos, Anelisa Gollo Dantas, Vera Ayres Meloni, Sintia Nogueira Belangero, Vera Lúcia Gil-da-Silva-Lopes, Chong Ae Kim, Maria Isabel Melaragno
Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome. Genetics research 2024 (2024)
Henrique Garcia Silveira, Carlos Eduardo Steiner, Giovana Toccoli, Luise Longo Angeloni, Júlia Lôndero Heleno, Samira Spineli-Silva, Ana Mondadori Dos Santos, Társis Antonio Paiva Vieira, Maria Isabel Melaragno, Vera Lúcia Gil-da-Silva-Lopes
Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome. Genes 15 (2) (2024)
Natalia Nunes, Beatriz Carvalho Nunes, Malú Zamariolli, Diogo Cordeiro de Queiroz Soares, Leonardo Caires Dos Santos, Anelisa Gollo Dantas, Vera Ayres Meloni, Sintia Nogueira Belangero, Vera Lúcia Gil-da-Silva-Lopes, Chong Ae Kim, Maria Isabel Melaragno
Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome. Genetics research 2024 (2024)
Henrique Garcia Silveira, Carlos Eduardo Steiner, Giovana Toccoli, Luise Longo Angeloni, Júlia Lôndero Heleno, Samira Spineli-Silva, Ana Mondadori Dos Santos, Társis Antonio Paiva Vieira, Maria Isabel Melaragno, Vera Lúcia Gil-da-Silva-Lopes
Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome. Genes 15 (2) (2024)
Bruna Burssed, Malú Zamariolli, Bianca Pereira Favilla, Vera Ayres Meloni, Eny Maria Goloni-Bertollo, Fernanda Teixeira Bellucco, Maria Isabel Melaragno
Fold-back mechanism originating inv-dup-del rearrangements in chromosomes 13 and 15. Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 31 (1) (2023)
Bruna Burssed, Malú Zamariolli, Bianca Pereira Favilla, Vera Ayres Meloni, Eny Maria Goloni-Bertollo, Fernanda Teixeira Bellucco, Maria Isabel Melaragno
Fold-back mechanism originating inv-dup-del rearrangements in chromosomes 13 and 15. Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 31 (1) (2023)
Bruna Burssed, Malú Zamariolli, Bianca Pereira Favilla, Vera Ayres Meloni, Eny Maria Goloni-Bertollo, Fernanda Teixeira Bellucco, Maria Isabel Melaragno
Fold-back mechanism originating inv-dup-del rearrangements in chromosomes 13 and 15. Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 31 (1) (2023)
M Zamariolli, A G Dantas, N Nunes, M Moysés-Oliveira, I C Sgardioli, D C Q Soares, V L Gil-Da-Silva-Lopes, C A Kim, Maria Isabel Melaragno
Phenotypic heterogeneity in 22q11.2 deletion syndrome: Copy Number Variants as genetic modifiers for congenital heart disease in a Brazilian cohort. American journal of medical genetics. Part A (2023)
Malú Zamariolli, Bruna Burssed, Mariana Moysés-Oliveira, Mileny Esbravatti Stephano Colovati, Fernanda Teixeira da Silva Bellucco, Leonardo Caires Dos Santos, Ana Beatriz Alvarez Perez, Silvia Bragagnolo, Maria Isabel Melaragno
Novel MYT1 variants expose the complexity of oculo-auriculo-vertebral spectrum genetic mechanisms. American journal of medical genetics. Part A 185 (7) (2021)
Bianca Pereira Favilla, Vera Ayres Meloni, Ana Beatriz Perez, Danilo Moretti-Ferreira, Deise Helena de Souza, Fernanda Teixeira Bellucco, Maria Isabel Melaragno
Spread of X-chromosome inactivation into autosomal regions in patients with unbalanced X-autosome translocations and its phenotypic effects. American journal of medical genetics. Part A 185 (8) (2021)
Victória Cabral Silveira Monteiro de Godoy, Fernanda Teixeira Bellucco, Mileny Colovati, Hélio Rodrigues de Oliveira-Junior, Mariana Moysés-Oliveira, Maria Isabel Melaragno
Copy number variation (CNV) identification, interpretation, and database from Brazilian patients. Genetics and molecular biology 43 (4) (2020)
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
Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome. Human genetics 138 (1) (2019)
Malú Zamariolli, Mileny Colovati, Mariana Moysés-Oliveira, Natália Nunes, Leonardo Caires Dos Santos, Ana B Alvarez Perez, Silvia Bragagnolo, Maria Isabel Melaragno
Rare single-nucleotide variants in oculo-auriculo-vertebral spectrum (OAVS). Molecular genetics & genomic medicine 7 (10) (2019)
Fernanda T Bellucco, Claudia B de Mello, Vera A Meloni, Maria Isabel Melaragno
Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature. Molecular genetics & genomic medicine 7 (12) (2019)
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
Inactivation of AMMECR1 is associated with growth, bone, and heart alterations. Human mutation 39 (2) (2017)

Maria Isabel Melaragno.css-eqlu8i{font-size:small;padding-left:4px;} (M I Melaragno)

Publication Activity (10 Years)

Top Topics

Top Venues

Maria Isabel Melaragno (M I Melaragno)