Výsledky vyhledávání - "Oskar A, Haas"

Akademický článek

Retrospective identification of the first cord blood–transplanted severe aplastic anemia in a STAT1-associated chronic mucocutaneous candidiasis family: case report, review of literature and pathophysiologic background

Autor: Franz-Martin Fink, Reinhard Höpfl, Martina Witsch-Baumgartner, Gabriele Kropshofer, Sabine Martin, Valentin Fink, Maximilian Heeg, Christina Peters, Johannes Zschocke, Oskar A. Haas

Publikováno v: Frontiers in Immunology, Vol 15 (2024)

Severe aplastic anemia (SAA) is a life-threatening bone marrow failure syndrome whose development can be triggered by environmental, autoimmune, and/or genetic factors. The latter comprises germ line pathogenic variants in genes that bring about habi

Externí odkaz: https://doaj.org/article/eb09a0ad8bb944ac949507e6455df9f6

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Akademický článek

Optical Genome Mapping Identifies Novel Recurrent Structural Alterations in Childhood ETV6::RUNX1+ and High Hyperdiploid Acute Lymphoblastic Leukemia

Autor: Danielle Brandes, Layal Yasin, Karin Nebral, Jana Ebler, Dagmar Schinnerl, Daniel Picard, Anke K. Bergmann, Jubayer Alam, Stefan Köhrer, Oskar A. Haas, Andishe Attarbaschi, Tobias Marschall, Martin Stanulla, Arndt Borkhardt, Triantafyllia Brozou, Ute Fischer, Rabea Wagener

Publikováno v: HemaSphere, Vol 7, Iss 8, p e925 (2023)

The mutational landscape of B-cell precursor acute lymphoblastic leukemia (BCP-ALL), the most common pediatric cancer, is not fully described partially because commonly applied short-read next generation sequencing has a limited ability to identify s

Externí odkaz: https://doaj.org/article/2b7eb25f131c4839b43dc5acad546223

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Akademický článek

Genomic breakpoint-specific monitoring of measurable residual disease in pediatric non-standard-risk acute myeloid leukemia

Autor: Margarita Maurer-Granofszky, Stefan Kohrer, Susanna Fischer, Angela Schumich, Karin Nebral, Patrizia Larghero, Claus Meyer, Astrid Mecklenbrauker, Nora Muhlegger, Rolf Marschalek, Oskar A. Haas, Renate Panzer-Grumayer, Michael N. Dworzak

Publikováno v: Haematologica, Vol 109, Iss 3 (2023)

Pediatric acute myeloid leukemia (AML) is a highly heterogeneous disease making standardized measurable residual disease (MRD) assessment challenging. Currently, patient-specific DNA-based assays are only rarely applied for MRD assessment in pediatri

Externí odkaz: https://doaj.org/article/cc4a5ab1fc2d458abc0024d8047deb85

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Akademický článek

Resolving inherited and de novo germline predisposing sequence variants by means of whole exome trio analyses in childhood hematological malignancies

Autor: Triantafyllia Brozou, Layal Yasin, Danielle Brandes, Daniel Picard, Carolin Walter, Julian Varghese, Martin Dugas, Ute Fischer, Arndt Borkhardt, Oskar A. Haas

Publikováno v: Frontiers in Pediatrics, Vol 10 (2023)

Molecular screening tools have significantly eased the assessment of potential germline susceptibility factors that may underlie the development of pediatric malignancies. Most of the hitherto published studies utilize the comparative analyses of the

Externí odkaz: https://doaj.org/article/6708bfe8cbf947749a0cbf40b25fba82

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Akademický článek

Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in a NHEJ1-Deficient Long-term Survivor

Autor: Fiona Poyer, Raúl Jimenez Heredia, Wolfgang Novak, Petra Zeitlhofer, Karin Nebral, Michael N. Dworzak, Oskar A. Haas, Kaan Boztug, Leo Kager

Publikováno v: Frontiers in Immunology, Vol 13 (2022)

We report the case of a male Pakistani patient with a pathogenic homozygous loss of function variant in the non-homologous end-joining factor 1 (NHEJ1) gene. The growth retarded and microcephalic boy with clinodactyly of both hands and hyperpigmentat

Externí odkaz: https://doaj.org/article/31b1b085a0d24e99b3dd5720334df4c3

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Akademický článek

SARS-CoV-2 Infection and Active, Multiorgan, Severe cGVHD After HSCT for Adolescent ALL: More Luck Than Understanding? A Case Report

Autor: Natalia Zubarovskaya, Irene Hofer-Popow, Marco Idzko, Oskar A. Haas, Anita Lawitschka

Publikováno v: Frontiers in Pediatrics, Vol 9 (2022)

Graft-vs. -host disease (GvHD) is a serious and complex immunological complication of haematopoietic stem cell transplantation (HSCT) and is associated with prolonged immunodeficiency and non-relapse mortality. Standard treatment of chronic GvHD comp

Externí odkaz: https://doaj.org/article/4dd3f435da984725b1ad6e6794e7cc5d

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