Search Results - "Gallivan, Louise"

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

“…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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Factor XIII deficiency causing mutation, Ser295Arg, in exon 7 of the factor XIIIA gene by Anwar, R, Gallivan, L, Miloszewski, K J, Markham, A F

“…Inherited factor XIII (FXIII) deficiency is an autosomal recessive disorder which results in a serious bleeding diathesis, problems with wound healing and a…”
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The Leu564 factor XIIIA variant results in significantly lower plasma factor XIII levels than the Pro564 variant by Gallivan, L, Markham, A F, Anwar, R

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Genotype/Phenotype Correlations for Coagulation Factor XIII: Specific Normal Polymorphisms Are Associated With High or Low Factor XIII Specific Activity by Anwar, Rashida, Gallivan, Louise, Edmonds, Stuart D., Markham, Alexander F.

“…Factor XIII is a transglutaminase essential for normal hemostasis. We have studied the plasma FXIII levels and FXIII activity in 71 individuals and found these…”
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Genotype/Phenotype Correlations for Coagulation Factor XIII: Specific Normal Polymorphisms Are Associated With High or Low Factor XIII Specific Activity by Anwar, Rashida, Gallivan, Louise, Edmonds, Stuart D., Markham, Alexander F.

“…Factor XIII is a transglutaminase essential for normal hemostasis. We have studied the plasma FXIII levels and FXIII activity in 71 individuals and found these…”
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Total vitamin C, ascorbic acid, and dehydroascorbic acid concentrations in plasma of critically ill patients by Schorah, CJ, Downing, C, Piripitsi, A, Gallivan, L, Al-Hazaa, AH, Sanderson, MJ, Bodenham, A

“…Plasma concentrations of the antioxidant vitamin ascorbic acid were measured by high-performance liquid chromatography in critically ill patients in whom the…”
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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

“…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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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

“…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…”
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Identification of a new Leu354Pro mutation responsible for factor XIII deficiency by Anwar, Rashida, Gallivan, Louise, Trinh, Chi H., Hill, Frank G.H., Markham, Alexander F.

“…: We report a new homozygous CTG→CCG (Leu→Pro) mutation at codon 354 in the factor XIIIA gene of a patient suffering from FXIII deficiency. Leu354 lies in a…”
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Splicing and missense mutations in the human FXIIIA gene causing FXIII deficiency: effects of these mutations on FXIIIA RNA processing and protein structure by Anwar, Rashida, Gallivan, Louise, Miloszewski, Krzysztof J. A., Markham, Alexander F.

“…We have investigated the molecular basis of factor XIII (FXIII) deficiency in a family from the north‐west region of the U.K. and identified two sequence…”
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Identification of a new Leu354Pro mutation responsible for factor XIII deficiency by ANWAR, Rashida, GALLIVAN, Louise, TRINH, Chi H, HILL, Frank G. H, MARKHAM, Alexander F

“…We report a new homozygous CTG-->CCG (Leu-->Pro) mutation at codon 354 in the factor XIIIA gene of a patient suffering from FXIII deficiency. Leu354 lies in a…”
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Identification of a new Leu354Pro mutation responsible for factor XIII deficiency by Anwar, Rashida, Gallivan, Louise, Trinh, Chi H., Hill, Frank G.H., Markham, Alexander F.

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