Zobrazeno 1 - 10 of 32 pro vyhledávání: '"M. S. Enayat"'
2
Mutation Analysis in F9 Gene of 17 Families with Haemophilia B from Iran
Autor: Frank Hill, Mehran Karimi, M. S. Enayat, Bimal D. M. Theophilus, Shirin Farjadian, G. Chana
Publikováno v: Haemophilia. 10:751-755
Seventeen haemophilia B families from Iran were investigated to determine the causative mutation. All the essential regions of the F9 gene were initially screened by conformational sensitive gel electrophoresis and exons with band shift were sequence
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31cc449577a7fadeb34f0fdec7e85723
https://doi.org/10.1111/j.1365-2516.2004.01041.x
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4
A New Candidate Missense Mutation (Leu 1657 Ile) in an Apparently Asymptomatic Type 2A (Phenotype IIA) von Willebrand Disease Family
Autor: M. S. Enayat, Frank Hill, Andrea Guilliatt, Bimal D. M. Theophilus, G. K. Surdhar
Publikováno v: Thrombosis and Haemostasis. 84:369-373
SummaryType 2A von Willebrand disease (VWD) is mostly an autosomal dominantly inherited bleeding disorder characterised by a qualitative defect of von Willebrand factor (VWF). Mutation screening was used to screen the whole of VWF gene followed by di
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::509a414d88e2da428d777d451efa41c2
https://doi.org/10.1055/s-0037-1614030
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5
De novo mutation causing sporadic type 2A von Willebrancd's disease: report of three cases
Autor: F. G. H. Hill, M. S. Enayat, B. D. M. Theophilus, K. J. Pasi
Publikováno v: Haemophilia. 2:244-249
Summary. Chemical mismatch detection has been used to screen selectively part of the A2 domain of exon 28 of the von Willebrand factor gene of three unrelated patients with apparently sporadic type 2A von Willebrand disease (vWD) and their parents an
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7a746aaaec12248478724cf34f531049
https://doi.org/10.1111/j.1365-2516.1996.tb00145.x
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6
Multimeric analysis of von Willebrand factor
Autor: M S, Enayat
Publikováno v: Methods in molecular medicine. 31
Von Willebrand Factor (vWF) in normal plasma is composed of a series of high molecular multimers, ranging in size from 8×10(5) to over 15×10(6) Daltons (1). The multimeric structure of vWF was first investigated by two-dimensional crossed immunoele
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::93d49f0415053914d5c428d5d1dfa35c
https://pubmed.ncbi.nlm.nih.gov/21340995
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7
Use of Intron 40 VNTR I in vWD Gene Tracking
Autor: M S, Enayat, G K, Surdhar
Publikováno v: Methods in molecular medicine. 31
Common alleles or polymorphisms form the basis of human diversity, and some of these polymorphisms closely linked on the same chromosome with a defective gene have been used for gene tracking in many genetic disorders. The success of any linkage anal
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ab0a0e711fff01859a6693908d69e23d
https://pubmed.ncbi.nlm.nih.gov/21340994
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8
Congenital Microangiopathic Haemolytic Anemia: A Variant of Thrombotic Thrombocytopenic Purpura?
Autor: Philip Darbyshire, Patricia C. E. Sartori, M. S. Enayat
Publikováno v: Pediatric Hematology and Oncology. 10:271-277
We describe a child with recurrent microangiopathic haemolytic anemia (MAHA) and thrombocytopenia (TCP) who presented on the first day of life. Remission was maintained only by regular infusions of fresh frozen plasma (FFP). This case shows similarit
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::213913204fffddd74daba8bd30e3eb9f
https://doi.org/10.3109/08880019309029496
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