Search Results - "Flores Lagunes, Luis Leonardo"
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Dominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes
Published in Alzheimer's & dementia (01-04-2021)“…Introduction A growing number of dominantly inherited Alzheimer's disease (DIAD) cases have become known in Latin American (LatAm) in recent years. However,…”
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Correction to: Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations
Published in Journal of clinical immunology (01-10-2021)“…A Correction to this paper has been published: https://doi.org/10.1007/s10875-021-01075-7…”
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Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele
Published in Frontiers in genetics (30-09-2021)Get full text
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Mutational Landscape of CEBPA in Mexican Pediatric Acute Myeloid Leukemia Patients: Prognostic Implications
Published in Frontiers in pediatrics (11-07-2022)“…BackgroundIn Mexico, the incidence of acute myeloid leukemia (AML) has increased in the last few years. Mortality is higher than in developed countries, even…”
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Discovery and validation of dominantly Inherited Alzheimer’s Disease mutations in populations from Latin America
Published in Alzheimer's & dementia (01-12-2022)“…Background More than 300 variants in the presenilin 1 (PSEN1), presenilin 2 (PSEN2), or amyloid precursor protein (APP) genes have been reported to cause…”
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Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations
Published in Journal of clinical immunology (01-08-2021)“…Mutations in recombinase activating genes 1 and 2 ( RAG1/2 ) result in human severe combined immunodeficiency (SCID). The products of these genes are essential…”
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An Exploratory Survey on the Care for Ataxic Patients in the American Continents and the Caribbean
Published in Cerebellum (London, England) (01-08-2023)“…Little is known about access of rare disease carriers to health care. To increase this knowledge, the Pan American Hereditary Ataxia Network (PAHAN) conducted…”
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IKZF1plus is a frequent biomarker of adverse prognosis in Mexican pediatric patients with B-acute lymphoblastic leukemia
Published in Frontiers in oncology (03-04-2024)“…BackgroundRecurrent genetic alterations contributing to leukemogenesis have been identified in pediatric B-cell Acute Lymphoblastic Leukemia (B-ALL), and some…”
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IKZF1 plus is a frequent biomarker of adverse prognosis in Mexican pediatric patients with B-acute lymphoblastic leukemia
Published in Frontiers in oncology (2024)“…Recurrent genetic alterations contributing to leukemogenesis have been identified in pediatric B-cell Acute Lymphoblastic Leukemia (B-ALL), and some are useful…”
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Discovery and validation of dominantly inherited Alzheimer's disease mutations in populations from Latin America
Published in Alzheimer's research & therapy (05-08-2022)“…In fewer than 1% of patients, AD is caused by autosomal dominant mutations in either the presenilin 1 (PSEN1), presenilin 2 (PSEN2), or amyloid precursor…”
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ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele
Published in Frontiers in genetics (09-09-2021)“…This study reports on a Mexican mestizo patient with a multi-systemic syndrome including neurological involvement and a type I serum transferrin profile…”
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Profiling FLT3 Mutations in Mexican Acute Myeloid Leukemia Pediatric Patients: Impact on Overall Survival
Published in Frontiers in pediatrics (16-09-2020)“…Acute myeloid leukemia (AML) is the second most frequent leukemia in childhood. The gene participates in hematopoietic stem cell proliferation. mutations are…”
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