Výsledky vyhledávání - "Rosa Margarita Cruz-Osorio"

Akademický článek

Case Report: Characterization of known (c.607G>C) and novel (c.416C>G) ELANE mutations in two Mexican families with congenital neutropenia

Autor: María Enriqueta Núñez-Núñez, Juan Carlos Lona-Reyes, Brenda López-Barragán, Rosa Margarita Cruz-Osorio, Bricia Melissa Gutiérrez-Zepeda, Antonio Quintero-Ramos, Denisse Stephania Becerra-Loaiza

Publikováno v: Frontiers in Immunology, Vol 14 (2023)

The most common causes of congenital neutropenia are mutations in the ELANE (Elastase, Neutrophil Expressed) gene (19p13.3), mostly in exon 5 and the distal portion of exon 4, which result in different clinical phenotypes of neutropenia. Here, we rep

Externí odkaz: https://doaj.org/article/bdc4f7a3a02146dfa61961722576c363

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Complete blood count differences in a cohort of Down syndrome neonates with transient abnormal myelopoiesis screened for GATA1 pathogenic variants

Autor: Mireya Orozco-Vela, Jorge Román Corona-Rivera, Christian Peña-Padilla, Aurea Márquez-Mora, Rosa Margarita Cruz-Osorio, Alejandra Baldomero-López, Alfredo Corona-Rivera, Lucero Mendoza-Maldonado, Lucina Bobadilla-Morales, César Cenobio Barba-Barba

Publikováno v: American Journal of Medical Genetics Part A. 182:2085-2093

Transient abnormal myelopoiesis (TAM) raises the risk for acute myeloid leukemia of Down syndrome (DS) (ML-DS), and both are related to GATA1 pathogenic variants. Here, we analyzed which findings on complete blood count (CBC) are associated with TAM

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4512285ce4ad053e38a49e5dafde8f60
https://doi.org/10.1002/ajmg.a.61748

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A translocation t(5;15)(q15;q11-13) infant case with acute lymphoblastic leukemia and literature review: prognosis implications

Autor: Rosa Margarita Cruz-Osorio, Citlalli Ortega-de-la-Torre, Lucina Bobadilla-Morales, Fernando Sánchez-Zubieta, Sergio Gallegos-Castorena, Alfredo Corona-Rivera

Publikováno v: Journal of pediatric hematology/oncology. 34(5)

Infant acute lymphoblastic leukemia (ALL) represents poor prognosis despite intensive chemotherapy. Rearrangements of chromosome 11q23 are not observed in 34% of the cases. Infant ALL patients with t(5;15)(p15;q11-13) are rare and sporadic. In large

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::738f7908200a573bdaded2cea431e97b
https://pubmed.ncbi.nlm.nih.gov/23652870

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