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PubMed 8863162 Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene. We describe two female monozygotic (MZ) twin 1.87 KB 2018-06-15 19 2
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PubMed 9619918 IL-2-induced growth of CD8+ T cell prolymphocytic leukemia cells mediated by NF-kappaB induction and IL-2 receptor alpha expression. The binding of interleukin-2 (IL-2) to its receptor on normal T cel 1.47 KB 2018-06-15 15 0
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PubMed 9734661 Establishment and characterization of EBV-positive and EBV-negative primary effusion lymphoma cell lines harbouring human herpesvirus type-8. In this study we report on the establishment and character 1.38 KB 2018-06-15 16 0
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PubMed 9737693 Models of lineage switching in hematopoietic development: a new myeloid-committed eosinophil cell line (YJ) demonstrates trilineage potential. A new human leukemia cell line with an eosinophilic pheno 2.25 KB 2018-06-15 16 2
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PubMed 9783712 Seminoma in a postmenopausal woman with a Y;15 translocation in peripheral blood lymphocytes and a t(Y;15)/45,X Turner mosaic pattern in skin fibroblasts. We report an unusual case of a 55 year old Ja 1.62 KB 2018-06-15 15 4
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PubMed 9920778 Imbalanced expression of the glucocorticoid receptor isoforms in cultured lymphocytes from a patient with systemic glucocorticoid resistance and chronic lymphocytic leukemia. The human glucocorticoid 1.64 KB 2018-06-15 18 1
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PubMed 10024668 Tissue specific expression and chromosomal mapping of a human UDP-N-acetylglucosamine: alpha1,3-d-mannoside beta1, 4-N-acetylglucosaminyltransferase. A human cDNA for UDP- N -acetylglucosamine:alpha1, 1.18 KB 2019-05-30 60 5
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PubMed 100562 Familial deficiency of the seventh component of complement associated with recurrent bacteremic infections due to Neisseria. The serum of a 29-year old woman with a recent episode of disseminated gono 1.43 KB 2015-11-02 16 4
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PubMed 10071193 Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-li 1.52 KB 2015-11-02 18 3
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PubMed 10078749 GCH1 mutation in a patient with adult-onset oromandibular dystonia. The authors report a mutation in exon 5 of GCH1 in a patient with adult-onset oromandibular dystonia and no obvious family history o 417 Bytes 2015-11-02 18 0
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