Megaloblastic anemia with homocystinuria type cblE: Atypical presentation in a pediatric patient with high transfusion requirement and autoimmune phenomena
Rossetti, Estefania, Pepe, Carolina, Eandi Eberle, Silvia, Bindi, Veronica, Fernandez, Diego, Nieto, Leandro, Gonzalez, Maria Magdalena, Avalos, Vanesa
Published in Pediatric blood & cancer (01.04.2024)
Published in Pediatric blood & cancer (01.04.2024)
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Journal Article
Lineage switch in childhood acute leukemia: An unusual event with poor outcome
Rossi, Jorge G., Bernasconi, Andrea R., Alonso, Cristina N., Rubio, Patricia L., Gallego, Marta S., Carrara, Carolina A., Guitter, Myriam R., Eberle, Silvia Eandi, Cocce, Mariela, Zubizarreta, Pedro A., Felice, María S.
Published in American journal of hematology (01.09.2012)
Published in American journal of hematology (01.09.2012)
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Journal Article
Experience with four consecutive BFM-based protocols for treatment of childhood with non-promyelocytic acute myeloblastic leukemia in Argentina
Felice, Maria S., Rossi, Jorge G., Alonso, Cristina N., Gallego, Marta S., Eberle, Silvia Eandi, Alfaro, Elizabeth M., Guitter, Myriam R., Bernasconi, Andrea R., Rubio, Patricia L., Coccé, Mariela C., Zubizarreta, Pedro A.
Published in Leukemia & lymphoma (01.09.2016)
Published in Leukemia & lymphoma (01.09.2016)
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Journal Article
Phenotypic and genotypic characterization of glucose-6-phosphate dehydrogenase deficiency in Argentina. Retrospective and descriptive study
Eandi Eberle, Silvia, Pepe, Carolina, Chaves, Alejandro, Aguirre, Fernando, Milanesio, Berenice, Fernández, Diego, Ávalos Gómez, Vanesa, Sciuccati, Gabriela, Díaz, Lilian A, Candas, Andrea, Cervio, Carolina, Bonduel, Mariana, Feliu Torres, Aurora
Published in Archivos argentinos de pediatría (01.08.2019)
Published in Archivos argentinos de pediatría (01.08.2019)
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Journal Article
Cytogenetic and Molecular Findings in Children with Acute Lymphoblastic Leukemia: Experience of a Single Institution in Argentina
Coccé, Mariela C., Alonso, Cristina N., Rossi, Jorge G., Bernasconi, Andrea R., Rampazzi, Maria A., Felice, Maria S., Rubio, Patricia L., Eandi Eberle, Silvia, Medina, Adriana, Gallego, Marta S.
Published in Molecular syndromology (01.10.2015)
Published in Molecular syndromology (01.10.2015)
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Journal Article
Erythrocyte indexes in hereditary spherocytosis
Eberle, Silvia Eandi, Sciuccati, Gabriela, Bonduel, Mariana, Díaz, Lilian, Staciuk, Raquel, Torres, Aurora Feliú
Published in Medicina (Buenos Aires) (2007)
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Published in Medicina (Buenos Aires) (2007)
Journal Article
A new β(0) frameshift mutation, HBB: c.44delT (p.Leu14ArgfsX5), identified in an Argentinean family associated with secondary genetic modifiers of β-thalassemia
Pepe, Carolina, Eberle, Silvia Eandi, Chaves, Alejandro, Milanesio, Berenice, Aguirre, Fernando M, Gómez, Vanesa Avalos, Diaz, Lilian, Mansini, Adrian P, Fernandez, Diego A, Sciuccati, Gabriela, Candas, Andrea, Cervio, Carolina, Bonduel, Mariana, Feliú-Torres, Aurora
Published in Hemoglobin (01.01.2014)
Published in Hemoglobin (01.01.2014)
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Journal Article
Hb S-San Martin: A New Sickling Hemoglobin With Two Amino Acid Substitutions [β6(A3)Glu→Val;β105(G7)Leu→Pro] In An Argentinean Family
Feliu-Torres, Aurora, Eberle, Silvia Eandi, Bragós, Irma M., Sciuccati, Gabriela, Ojeda, Mara J., Calvo, Karina L., Voss, María E., Pratti, Arianna F., Milani, Angela C., Bonduel, Mariana, Díaz, Lilian, Noguera, Nélida I.
Published in Hemoglobin (01.10.2010)
Published in Hemoglobin (01.10.2010)
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Journal Article
Beta talasemia intermedia: características clínicas y estudio molecular. Serie de casos clínicos
Eandi Eberle, Silvia, Pepe, Carolina, Aguirre, Fernando, Milanesio, Berenice, Fernández, Diego, Mansini, Adrián, Chávez, Alejandro, Sciuccati, Gabriela, Díaz, Lilian, Candás, Andrea, Avalos Gómez, Vanesa, Bonduel, Mariana, Feliú Torres, Aurora
Published in Archivos argentinos de pediatría (01.10.2015)
Published in Archivos argentinos de pediatría (01.10.2015)
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Journal Article
Hb Alesha [β67(E11)Val→Met, GTG→ATG] in an Argentinean Girl
Eandi Eberle, Silvia, Noguera, Nélida I., Sciuccati, Gabriela, Bonduel, Mariana, Díaz, Lilian, Staciuk, Raquel, Targovnik, Héctor M., Feliu-Torres, Aurora
Published in Hemoglobin (01.01.2007)
Published in Hemoglobin (01.01.2007)
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Journal Article
Anemia hemolítica grave causada por hemoglobina Southampton: Presentación de caso clínico
Avalos Gómez, Vanesa, Eandi Eberle, Silvia, Pepe, Carolina, Sciuccati, Gabriela, García Rosolen, Nerina, Cervio, Carolina, Díaz, Lilian, Candás, Andrea, Bonduel, Mariana, Piazza, Guillermo, Chaves, Darío, Feliú Torres, Aurora
Published in Archivos argentinos de pediatría (01.10.2012)
Published in Archivos argentinos de pediatría (01.10.2012)
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Journal Article
Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients
Chaves, Alejandro, Eberle, Silvia Eandi, Defelipe, Lucas, Pepe, Carolina, Milanesio, Berenice, Aguirre, Fernando, Fernandez, Diego, Turjanski, Adrian, Feliú-Torres, Aurora
Published in Clinical biochemistry (01.07.2016)
Published in Clinical biochemistry (01.07.2016)
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Journal Article
Deficiencia de glucosa-6-fosfato deshidrogenasa: Serie de casos clínicos
Eandi Eberle, Silvia, García Rosolen, Nerina, Urtasun, Carolina, Sciuccati, Gabriela, Díaz, Lilian, Savietto, Valeria, Candás, Andrea, Avalos Gómez, Vanesa, Cervio, Carolina, Bonduel, Mariana, Feliú Torres, Aurora
Published in Archivos argentinos de pediatría (01.08.2011)
Published in Archivos argentinos de pediatría (01.08.2011)
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Journal Article
Early T Acute Lymphoblastic Leukemia in Childhood: Prevalence and Clinical Characteristics
Rossi, Jorge Gabriel, Carrara, Carolina, Rubio, Patricia L., Alonso, Cristina N., Bernasconi, Andrea, Sajaroff, Elisa, Cocce, Mariela, Gallego, Marta, Eandi, Silvia, Ibarrola, Paz, Luna, Patricia, Vides, Marisol, Pedrini, Cesy Cristina, Felice, Maria Sara
Published in Blood (06.12.2014)
Published in Blood (06.12.2014)
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Journal Article
Severe hemolytic anemia due to hemoglobin Hammersmith
Eberle, Silvia J Eandi, Noguera, Nélida, Calvo, Karina, Ojeda, María, Bragós, Irma, Pratti, Arianna, Milani, Angela, Targovnik, Héctor, Sciuccati, Gabriela, Díaz, Lilian, Bonduel, Mariana, Torres, Aurora Feliú
Published in Archivos argentinos de pediatría (01.08.2009)
Published in Archivos argentinos de pediatría (01.08.2009)
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Journal Article
A New β 0 Frameshift Mutation, HBB : c.44delT (p.Leu14ArgfsX5), Identified in an Argentinean Family Associated with Secondary Genetic Modifiers of β-Thalassemia
Pepe, Carolina, Eberle, Silvia Eandi, Chaves, Alejandro, Milanesio, Berenice, Aguirre, Fernando M., Gómez, Vanesa Avalos, Diaz, Lilian, Mansini, Adrian P., Fernandez, Diego A., Sciuccati, Gabriela, Candas, Andrea, Cervio, Carolina, Bonduel, Mariana, Feliú-Torres, Aurora
Published in Hemoglobin (01.12.2014)
Published in Hemoglobin (01.12.2014)
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Journal Article
A New β0 Frameshift Mutation, HBB: c.44delT (p.Leu14ArgfsX5), Identified in an Argentinean Family Associated with Secondary Genetic Modifiers of β-Thalassemia
Pepe, Carolina, Eberle, Silvia Eandi, Chaves, Alejandro, Milanesio, Berenice, Aguirre, Fernando M., Gómez, Vanesa Avalos, Diaz, Lilian, Mansini, Adrian P., Fernandez, Diego A., Sciuccati, Gabriela, Candas, Andrea, Cervio, Carolina, Bonduel, Mariana, Feliú-Torres, Aurora
Published in Hemoglobin (01.12.2014)
Published in Hemoglobin (01.12.2014)
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Journal Article
Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argentinian patients
Milanesio, Berenice, Pepe, Carolina, Defelipe, Lucas A., Eandi Eberle, Silvia, Avalos Gomez, Vanesa, Chaves, Alejandro, Albero, Agustina, Aguirre, Fernando, Fernandez, Diego, Aizpurua, Luciana, Paula Dieuzeide, María, Turjanski, Adrián, Bianchi, Paola, Fermo, Elisa, Feliu-Torres, Aurora
Published in Clinical biochemistry (01.05.2021)
Published in Clinical biochemistry (01.05.2021)
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Journal Article