日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome

三位曾怀疑患有 22q11.2 缺失综合征的患者的 KMT2A 变异

Henrique Garcia Silveira, Carlos Eduardo Steiner, Giovana Toccoli, Luise Longo Angeloni, Júlia Lôndero Heleno, Samira Spineli-Silva, Ana Mondadori Dos Santos, Társis Paiva Vieira, Maria Isabel Melaragno, Vera Lúcia Gil-da-Silva-Lopes

Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome

22q11.2 缺失综合征患者表型异质性候选基因变异

Natalia Nunes, Beatriz Carvalho Nunes, Malú Zamariolli, Diogo Cordeiro de Queiroz Soares, Leonardo Caires Dos Santos, Anelisa Gollo Dantas, Vera Ayres Meloni, Sintia Iole Belangero, Vera Lúcia Gil-Da-Silva-Lopes, Chong Ae Kim, Maria Isabel Melaragno

Premature ovarian insufficiency is associated with global alterations in the regulatory landscape and gene expression in balanced X-autosome translocations

卵巢功能不全早期与平衡 X 常染色体易位中调控环境和基因表达的整体改变有关

Adriana Di-Battista #, Bianca Pereira Favilla #, Malú Zamariolli, Natália Nunes, Alexandre Defelicibus, Lucia Armelin-Correa, Israel Tojal da Silva, Alexandre Reymond #, Mariana Moyses-Oliveira #, Maria Isabel Melaragno #

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

与临床表型相关的X常染色体平衡易位中核苷酸分辨率的断点映射

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

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

眼耳椎谱(OAVS)中罕见的单核苷酸变异

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

Identification of IL11RA and MELK amplification in gastric cancer by comprehensive genomic profiling of gastric cancer cell lines

通过对胃癌细胞系进行全面基因组分析来鉴定胃癌中的 IL11RA 和 MELK 扩增

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 Sm

Terminal 18q deletions are stabilized by neotelomeres

18q 末端缺失由新端粒稳定

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