Search Results - "Ferreira Bastos, Elenice"

Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption? by Bendas Feres Lima, Ingrid, Fátima Marques de Moraes, Lúcia de, Roberto da Fonseca, Carlos, Clinton Llerena Junior, Juan, Mehrjouy, Mana, Tommerup, Niels, Ferreira Bastos, Elenice

“…Mesomelia-Synostoses Syndrome (MSS)(OMIM 600,383) is a rare autosomal dominant disorder characterized by mesomelic limb shortening, acral synostoses and…”
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A rapid and accurate methylation‐sensitive high‐resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients by Ribeiro Ferreira, Igor, Darleans dos Santos Cunha, Wilton, Henrique Ferreira Gomes, Leonardo, Azevedo Cintra, Hiago, Lopes Cabral Guimarães Fonseca, Letícia, Ferreira Bastos, Elenice, Clinton Llerena, Juan, Farias Meira de Vasconcelos, Zilton, Cunha Guida, Letícia

“…Background Prader Willi (PWS) and Angelman (AS) syndromes are rare genetic disorders characterized by deletions, uniparental disomy, and imprinting defects at…”
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Complex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia: case report by Ornellas, Maria Helena Faria, Maioli, Maria Christina Paixão, Lucena, Stella Beatriz Sampaio Gonçalves de, Bastos, Elenice Ferreira, Chaves, Tatiana Silva, Melo, Karina Vieira de, Ribeiro-Carvalho, Marilza de Moura, Liehr, Thomas, Alves, Gilda

“…Complex karyotypes in acute myeloid leukemia (AML) are characterized by an overall low response rate with frequent relapses after clinical treatment. Here, we…”
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Trisomy 11 as an Additional Chromosome Alteration in a Child with Acute Promyelocytic Leukemia with Poor Prognosis by Bastos, Elenice Ferreira, Silva, Lidiane Alice, Ramos, Marcelo Coelho, Pimenta, Glicínia, Cortez, Paulo Ivo, de Lucena, Stella Beatriz Gonçalves, de Souza Fernandez, Teresa

“…The prognostic significance of the additional abnormalities to the t(15; 17) remains controversial. We report a case of promyelocytic leukemia (APL) in a…”
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Association of LRRK2 and GBA mutations in a Brazilian family with Parkinson's disease by Spitz, Mariana, Pereira, João Santos, Nicareta, Denise Hack, Abreu, Gabriella de Medeiros, Bastos, Elenice Ferreira, Seixas, Taís Leite, Pimentel, Márcia Mattos Gonçalves

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Screening of mutations in the additional sex combs like 1, transcriptional regulator, tumor protein p53, and KRAS proto-oncogene, GTPase/NRAS proto-oncogene, GTPase genes of patients with myelodysplastic syndrome by Leite, Carolina, Delmonico, Lucas, Alves, Gilda, Gomes, Romario José, Martino, Mariana Rodrigues, da Silva, Aline Rodrigues, Moreira, Aline Dos Santos, Maioli, Maria Christina, Scherrer, Luciano Rios, Bastos, Elenice Ferreira, Irineu, Roberto, Ornellas, Maria Helena

“…Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal bone marrow disorders characterized by ineffective hematopoiesis, different degrees of…”
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Myelodysplastic syndrome without ring sideroblasts and with Janus kinase 2 gene mutation: An unusual case report by Ornellas, Maria Helena, De França Silva, Monique, Solza, Cristiana, De Lucena Gonçalves, Stella Beatriz Sampaio, Silva De Almeida, Liliane, De Paula Ayres-Silva, Jackline, Seixas, Taís Leite, Bastos, Elenice Ferreira, Liehr, Thomas, Alves, Gilda

“…Myelodysplastic syndrome (MDS) cases comprise a heterogeneous group of hematological disorders that are characterized by impaired hematopoiesis, with…”
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Myelodysplastic syndrome without ring sideroblasts and with Janus kinase 2 gene mutation: An unusual case report by Ornellas, Maria Helena, De França Silva, Monique, Solza, Cristiana, De Lucena Gonçalves, Stella Beatriz Sampaio, Silva De Almeida, Liliane, De Paula Ayres-Silva, Jackline, Seixas, Taís Leite, Bastos, Elenice Ferreira, Liehr, Thomas, Alves, Gilda

“…Myelodysplastic syndrome (MDS) cases comprise a heterogeneous group of hematological disorders that are characterized by impaired hematopoiesis, with…”
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Translocação balanceada herdada t(8;19)(q12;q13)mat concomitante à deleção de 15q11.2 em um paciente com Síndrome de Angelman (SA) - A citogenética clássica não evanesce by Fonseca, Carlos Roberto, Fonseca, Letícia Lopes Cabral Guimarães da, Figueiredo, Kleber, Santos, Cristiane Queila Ebraim, Silva, Luana Luana, Moura, Vera Lúcia da Silva, Serrão, Anna Luiza Vaz, Moraes, Lúcia de Fátima Marques de, Correia, Patrícia Santana, Bastos, Elenice Ferreira, Llerena JR, Juan Clinton

“…Síndrome de Angelman (SA) é um transtorno neurocognitivo caracterizado por retardo motor e intelectual grave, distúrbio de movimento ou equilíbrio,…”
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Association of LRRK2 and GBA mutations in a Brazilian family with Parkinson's disease by Spitz, Mariana, Pereira, João Santos, Nicareta, Denise Hack, Abreu, Gabriella de Medeiros, Bastos, Elenice Ferreira, Seixas, Taís Leite, Pimentel, Márcia Mattos Gonçalves

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