Search Results - "Minford, Adrian"

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    Delayed Umbilical Bleeding--A Presenting Feature for Factor XIII Deficiency: Clinical Features, Genetics, and Management by Anwar, Rashida, Minford, Adrian, Gallivan, Louise, Trinh, Chi H, Markham, Alexander F

    Published in Pediatrics (Evanston) (01-02-2002)
    “…The objectives of this study were 1) to assess the importance of an early diagnosis for factor XIII (FXIII) deficiency, and 2) to investigate the molecular…”
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    Journal Article
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    Excluding medical and haematological conditions as a cause of bruising in suspected non-accidental injury by Minford, A M B, Richards, E M

    “…A mistaken diagnosis of child abuse can occur in a number of medical conditions, many of which can be readily diagnosed by experienced paediatricians. Bleeding…”
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    Journal Article
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    Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene by Anwar, R, Gallivan, L, Richards, M, Khair, K, Wright, M, Minford, A

    Published in Haematologica (Roma) (01-12-2005)
    “…We identified five disease-causing mutations in six factor XIII deficient patients from four unrelated families: two novel nonsense mutations (nucleotide…”
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    Journal Article
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    Delayed umbilical bleeding--a presenting feature for factor XIII deficiency: clinical features, genetics, and management by Anwar, Rashida, Minford, Adrian, Gallivan, Louise, Trinh, Chi H, Markham, Alexander F

    Published in Pediatrics (Evanston) (01-02-2002)
    “…Objectives. The objectives of this study were 1) to assess the importance of an early diagnosis for factor XIII (FXIII) deficiency, and 2) to investigate the…”
    Get full text
    Journal Article
  12. 12

    Molecular genetic analysis of severe protein C deficiency by Millar, David S., Johansen, Bent, Berntorp, Erik, Minford, Adrian, Bolton-Maggs, Paula, Wensley, Richard, Kakkar, Vijay, Schulman, Sam, Torres, Argimiro, Bosch, Norma, Cooper, David N.

    Published in Human genetics (2000)
    “…Severe protein C deficiency is a rare, early onset, venous thrombotic condition that is inherited as an autosomal recessive trait. The protein C (PROC) genes…”
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    Journal Article
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    Replacement therapy with a monoclonal antibody purified protein C concentrate in newborns with severe congenital protein C deficiency by Dreyfus, M, Masterson, M, David, M, Rivard, G E, Müller, F M, Kreuz, W, Beeg, T, Minford, A, Allgrove, J, Cohen, J D

    Published in Seminars in thrombosis and hemostasis (01-01-1995)
    “…Protein C replacement therapy with a monoclonal antibody purified, virus inactivated protein C concentrate was carried out in nine infants (three male, six…”
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    Clinical manifestations of protein C deficiency: a spectrum within one family by CHURCHILL, AMANDA J, GALLAGHER, MICHAEL J, BRADBURY, JOHN A, MINFORD, ADRIAN MA

    Published in British journal of ophthalmology (01-02-2001)
    “…COMMENT The clinical signs of homozygous protein C deficiency manifest from 2 hours to 2 weeks after birth. 2 Ocular features associated with this condition…”
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    Molecular genetic analysis of severe protein C deficiency by MILLAR, D. S, JOHANSEN, B, COOPER, D. N, BERNTORP, E, MINFORD, A, BOLTON-MAGGS, P, WENSLEY, R, KAKKAR, V, SCHULMAN, S, TORRES, A, BOSCH, N

    Published in Human genetics (01-06-2000)
    “…Severe protein C deficiency is a rare, early onset, venous thrombotic condition that is inherited as an autosomal recessive trait. The protein C (PROC) genes…”
    Get full text
    Journal Article