نتائج البحث - "Marta Rojas-Vasquez"

المصدر: Raghuram, N, Nakashima, K, Ab Rahman, S, Antoniou, E, Skajaa, T, Merli, P, Verma, A, Rabin, K R, Aftandilian, C, Kotecha, R S, Cheuk, D K L, Jahnukainen, K, Kolenova, A, Balwierz, W, Norton, A, O'Brien, M M, Cellot, S, Chopek, A, Arad-Cohen, N, Goemans, B F, Rojas-Vasquez, M, Ariffin, H, Bartram, J, Kolb, E A, Locatelli, F, Hasegawa, D, Klusmann, J-H, Hasle, H, McGuire, B, Sung, L & Hitzler, J K 2023, ' Survival Outcomes of Children with Relapsed or Refractory Myeloid Leukemia Associated with Down syndrome ', Blood Advances . https://doi.org/10.1182/bloodadvances.2022009381

مصطلحات موضوعية: Hematology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31a0fcd1b97bcceef6f43bd5f4ef5a6f
https://doi.org/10.1182/bloodadvances.2022009381

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4

LNK/SH2B3 As a Novel Driver in Juvenile Myelomonocytic Leukemia

المؤلفون: Astrid Wintering, Anna Hecht, Julia Meyer, Eric Brandon Wong, Deborah L French, Jean Ann Maguire, Chintan Jobaliya, Marta Rojas Vasquez, Sunil J. Desai, Robin Yates Dulman, Eneida R. Nemecek, Farid F Chehab, Mignon L. Loh, Elliot Stieglitz

المصدر: Blood. 140:6863-6864

مصطلحات موضوعية: Immunology, Cell Biology, Hematology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4efd117cdb6b0bbdc107866c63b63b5a
https://doi.org/10.1182/blood-2022-164527

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Extensive Pelvic Plexiform Neurofibroma Presenting As Clitoromegaly in a 3-Year-Old Female: Presentation and Management with MEK Inhibitor

المؤلفون: Andrea M. Haqq, Marta Rojas-Vasquez, Peter Metcalfe, Richelle C. Waldner

المصدر: J Pediatr Genet

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46f1dae053658deda6f6a013f74f72fa
https://europepmc.org/articles/PMC9236748/

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Mechanistic understanding of the combined immunodeficiency in complete human CARD11 deficiency

المصدر: The Journal of allergy and clinical immunology. 148(6)

مصطلحات موضوعية: 0301 basic medicine, Male, Adolescent, Chronic lymphocytic leukemia, Primary Immunodeficiency Diseases, Immunology, B-cell receptor, Naive B cell, Biology, Immunophenotyping, 03 medical and health sciences, 0302 clinical medicine, medicine, Immunology and Allergy, Humans, Memory B cell, Child, Immunodeficiency, Gene Expression Profiling, Precursor Cells, B-Lymphoid, Hematopoietic Stem Cell Transplantation, NF-kappa B, Germinal center, High-Throughput Nucleotide Sequencing, Infant, T-Lymphocytes, Helper-Inducer, medicine.disease, B-Cell CLL-Lymphoma 10 Protein, Germinal Center, BCL10, 3. Good health, CARD Signaling Adaptor Proteins, MALT1, 030104 developmental biology, Guanylate Cyclase, Mutation, 030215 immunology, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7993a1f7b0ebf4194cd1ce2dfa3968ef
https://pubmed.ncbi.nlm.nih.gov/33872653

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7

Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1

المؤلفون: Bertrand Isidor, Irene Valenzuela, Cyril Mignot, Wendy K. Chung, Haluk Kavus, Arnold Munnich, Madison Garrity, Austin Larson, Gary A. Bellus, Sara Reed, Marta Rojas-Vasquez

المساهمون: Institut Català de la Salut, [Garrity M] Columbia University School of Dental Medicine, New York, New York 10032, USA. [Kavus H] Department of Pediatrics, Columbia University Medical Center, New York, New York 10032, USA. [Rojas-Vasquez M] Department of Pediatric Hematology-Oncology, Stollery Children's Hospital, Edmonton, Alberta T6G 2B7, Canada. [Valenzuela I] Servei de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. [Larson A] Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, Colorado 80045, USA. [Reed S] Clinical Genetics and Genomic Medicine, Geisinger Health System, Danville, Pennsylvania 17821, USA, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia
Cold Spring Harbor Molecular Case Studies

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Microcephaly, Adolescent, Chromosomal Proteins, Non-Histone, DNA Mutational Analysis, aminoácidos, péptidos y proteínas::proteínas::fosfoproteínas [COMPUESTOS QUÍMICOS Y DROGAS], severe microcephaly, Neuropsychological Tests, Young Adult, Neurodevelopmental disorder, Loss of Function Mutation, Intellectual disability, Other subheadings::Other subheadings::/genetics [Other subheadings], medicine, Humans, Medical history, Amino Acids, Peptides, and Proteins::Proteins::Phosphoproteins [CHEMICALS AND DRUGS], Child, severe global developmental delay, Exome sequencing, Leukemia, Fosfoproteïnes, Otros calificadores::Otros calificadores::/genética [Otros calificadores], business.industry, Neurobiologia del desenvolupament - Malalties, trastornos mentales::trastornos del desarrollo neurológico [PSIQUIATRÍA Y PSICOLOGÍA], General Medicine, Phosphoproteins, medicine.disease, Hypotonia, Phenotype, Follow-up Report, intellectual disability, Neurodevelopmental Disorders, Autism spectrum disorder, Child, Preschool, Failure to thrive, Female, medicine.symptom, Trastorns del desenvolupament - Aspectes genètics, business, Mental Disorders::Neurodevelopmental Disorders [PSYCHIATRY AND PSYCHOLOGY]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bfa795b518209cecc5aca0d055498de
https://doi.org/10.1101/mcs.a006092

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A case of pediatric anaplastic large cell lymphoma with hemophagocytic lymphohistiocytosis mimicking juvenile myelomonocytic leukemia

المؤلفون: Marta Rojas-Vasquez, Jonathan M. Loree, Artur J. Szkotak

المصدر: Journal of Hematopathology. 4:21-29

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7504c65b36ac0722ed59075433032f88
https://doi.org/10.1007/s12308-011-0082-z

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