Výsledky vyhledávání - "D. P. Lillicrap"

Cosegregation of von Willebrand factor gene polymorphisms and possible germinal mosaicism in type IIB von Willebrand disease

Autor: E W, Murray, A R, Giles, P J, Bridge, I R, Peake, D P, Lillicrap

Publikováno v: Blood. 77:1476-1483

Recent reports of the mutations resulting in von Willebrand disease (vWD) have indicated that some cases of type IIA vWD are caused by single nucleotide substitutions in the gene encoding von Willebrand factor (vWF). However, the molecular pathogenes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f21dcf262d3584f504e52666c736f0e
https://doi.org/10.1182/blood.v77.7.1476.bloodjournal7771476

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Premature stroke in a family with lupus anticoagulant and antiphospholipid antibodies

Autor: P M Ford, Ford Se, D P Lillicrap, D Brunet

Publikováno v: Stroke. 21:66-71

Lupus anticoagulant and antiphospholipid antibodies are associated with thromboembolic phenomena in individuals both with and without systemic lupus erythematosus. A 32-year-old woman (the index case) with lupus anticoagulant, multiple cerebrovascula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bc179a04cb7bd024d891f623e3e0596
https://doi.org/10.1161/01.str.21.1.66

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Multicentric warfarin-induced skin necrosis complicating heparin-induced thrombocytopenia

Autor: T E, Warkentin, W M, Sikov, D P, Lillicrap

Publikováno v: American journal of hematology. 62(1)

Two patients developed catastrophic multicentric skin necrosis while receiving warfarin to treat venous thromboembolism complicated by immune-mediated heparin-induced thrombocytopenia (HIT). Patient 1 developed skin necrosis involving the breasts, th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::cdcae845270d4308cc1fd2abfc7e6d87
https://pubmed.ncbi.nlm.nih.gov/10467275

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Sensitivity of PCR in detecting monoclonal B cell proliferations

Autor: F. C. Ling, C. E. Clarke, D. P. Lillicrap, W. E. N. Corbett

AIMS--To evaluate the rapid detection of various forms of monoclonal B cell proliferations by using the polymerase chain reaction (PCR) to identify clonal immunoglobulin heavy chain genomic rearrangements. METHODS--Thirty four B cell lymphomas define

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82534427f17dc22cb5aa2f4d335f19d8
https://europepmc.org/articles/PMC501390/

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Characterization of the original Christmas disease mutation (cysteine 206----serine): from clinical recognition to molecular pathogenesis

Autor: S A, Taylor, J, Duffin, C, Cameron, J, Teitel, B, Garvey, D P, Lillicrap

Publikováno v: Thrombosis and haemostasis. 67(1)

Christmas disease was first reported as a distinct clinical entity in two manuscripts published in 1952. The eponym associated with this disorder, is the surname of the first patient examined in detail and reported by Biggs and colleagues in a paper

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::da70a2419a7c550464b1f089b65c8d5b
https://pubmed.ncbi.nlm.nih.gov/1615485

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Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene

Autor: D D, Koeberl, C D, Bottema, R P, Ketterling, P J, Bridge, D P, Lillicrap, S S, Sommer

Publikováno v: American journal of human genetics. 47(2)

Spontaneous mutation provides the substrate for evolution on one hand and for genetic susceptibility to disease on the other hand. X-linked diseases such as hemophilia B offer an opportunity to examine recent germ-line mutations in humans. By utilizi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1bc15189b61cb309c9e3bea3f6d3146d
https://pubmed.ncbi.nlm.nih.gov/2198809

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Comparison of phenotypic assessment and the use of two restriction fragment length polymorphisms in the diagnosis of the carrier state in haemophilia B

Autor: R J Matthews, D. P. Lillicrap, A. L. Bloom, I. R. Peake, M. B. Liddell

Publikováno v: British Journal of Haematology. 62:557-565

Summary. Carrier detection in haemophilia B has previously involved pedigree analysis and assessment of the coagulation phenotype. At best using these methods, carrier evaluation may be made with about 80% certainty (Orstavik et al, 1981). With isola

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5b7f1c841f68dfa0c211f9789ed67c2
https://doi.org/10.1111/j.1365-2141.1986.tb02968.x

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