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Showing 8 out of a total of 158 results for community: Atlas of Genetics and Cytogenetics in Oncology and Haematology. (0.008 seconds)
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(ARMGHM - Atlas Génétique des Cancers, 2020)X-linked thrombocytopenia (XLT) is a rare bleeding disorder characterized by isolated thrombocytopenia with small-sized platelets. XLT is a milder clinical variant of Wiskott-Aldrich syndrome (WAS), which is characterized by the clinical triad of eczema, susceptibility to infection and thrombocytopenia, while patients with XLT only present with thrombocytopenia. XLT is caused by a mutation in the WAS gene....
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(ARMGHM - Atlas Génétique des Cancers, 2020)Review on FANCL, with data on DNA, on the protein encoded, and where the gene is implicated....
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(ARMGHM - Atlas Génétique des Cancers, 2020)We provide a survey of the disease entities associated with GATA1 mutations....
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(ARMGHM - Atlas Génétique des Cancers, 2020)Primary cutaneous B-cell lymphomas (PCBCL) are a heterogeneous group of mature B-cells neoplasms that present in the skin without evidence of nodal or systemic involvement. The clinical and pathologic features of PCBCL differ significantly from the equivalent nodal lymphomas. Three main subtypes of PCBCL are recognized by the 2016 revised WHO classification. Studies have shown that PCBCLs are characterized by distinct immunophenotypic features, chromosomal aberrations and gene rearrangements which provide further support for their classification as separate entities from their nodal types....
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(ARMGHM - Atlas Génétique des Cancers, 2020)De Sanctis-Cacchione syndrome is an extremely rare disorder characterized by the skin and eye symptoms of xeroderma pigmentosum that occur along with neurological abnormalities, microcephaly, progressive mental retardation, dwarfism, hypogonadism, deafness, ataxia and quadriparesis. This syndrome is the most severe form of XP. It has also been associated with mutations in the ERCC6, XPA, ERCC2 (XPD), and XPC genes, which play roles in the transcription coupled nucleotide excision repair system....
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(ARMGHM - Atlas Génétique des Cancers, 2020)Review on systemic EBV positive T-cell lymphoma of childhood, with data on clinical findings, pathology and genetic alterations....
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(ARMGHM - Atlas Génétique des Cancers, 2020)Review on Primary Cutaneous CD8 Aggressive Epidermotropic Cytotoxic T Cell Lymphoma, with data on clinics, and the genes involved....
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(ARMGHM - Atlas Génétique des Cancers, 2020)Review of histologic subtypes of mesothelioma, with associated clinical, pathologic, and molecular data....
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