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Integrated genomic analysis to reduce chromosomal analysis for the diagnosis of pediatric hematologic malignancies: addressing the shortage of cytogenetic technologists.
Haematologica
January 2025
Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
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View Article and Find Full Text PDFA novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.
Hereditas
January 2025
Key Laboratory of Reproductive Health Diseases Research and Translation of Ministry of Education & Key Laboratory of Human Reproductive Medicine and Genetic Research of Hainan Provincie & Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China.
Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).
View Article and Find Full Text PDFHallmark discoveries in the biology of non-Wilms tumour childhood kidney cancers.
Nat Rev Urol
January 2025
Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.
Approximately 20% of paediatric and adolescent/young adult patients with renal tumours are diagnosed with non-Wilms tumour, a broad heterogeneous group of tumours that includes clear-cell sarcoma of the kidney, congenital mesoblastic nephroma, malignant rhabdoid tumour of the kidney, renal-cell carcinoma, renal medullary carcinoma and other rare histologies. The differential diagnosis of these tumours dates back many decades, when these pathologies were identified initially through clinicopathological observation of entities with outcomes that diverged from Wilms tumour, corroborated with immunohistochemistry and molecular cytogenetics and, subsequently, through next-generation sequencing. These advances enabled near-definitive recognition of different tumours and risk stratification of patients.
View Article and Find Full Text PDFIntroducing Diagnostic Testing for Chronic Myeloid Leukemia in a Public Hospital Setting in Western Kenya.
Arch Pathol Lab Med
January 2025
the Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis (Stohler, Vance).
Context.—: Chronic myeloid leukemia (CML) is a myeloproliferative disorder characterized by proliferation of the granulocytic cell line. The incidence of CML in Kenya is estimated at near 2000 cases annually.
View Article and Find Full Text PDFAssociation of Specific Gene Mutations with Immunoglobulin Heavy-Chain Variable Region and Chromosomal Alterations in Chronic Lymphocytic Leukemia Patients in India.
Asian Pac J Cancer Prev
January 2025
Principal Scientific Officer & Molecular Advisor, Rajiv Gandhi Cancer Institute & Research Centre, New Delhi, India.
Chronic lymphocytic leukemia (CLL) is a less common hematological malignancy in Indian people. It accounts for less than 5% of all leukemias. Information on genomic alteration in CLL is limited immunoglobulin heavy-chain variable region (IGHV) mutational status is considered the most reliable prognostic marker.
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