Gillian Mellars
Royal Free Hospital
7 Papers
15 Citations
Gillian Mellars is an academic researcher from Royal Free Hospital. The author has contributed to research in topics: Von Willebrand disease & Type I collagen. The author has an hindex of 5, co-authored 7 publications.
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Papers
Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA.
Nancy B.Y. Tsui,Rezan A. Kadir,K.C. Allen Chan,Claudia Chi,Gillian Mellars,Edward G. D. Tuddenham,Tak Yeung Leung,Tze K. Lau,Rossa W.K. Chiu,Y.M. Dennis Lo +9 more
TL;DR: A noninvasive test to diagnose whether the fetus has inherited a causative mutation for hemophilia from its mother is developed, based on a relative mutation dosage approach, that would make the decision to undertake prenatal testing less traumatic and safer for at-risk families.
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Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von Willebrand factor.
Anne Riddell,Keith Gomez,Carolyn M. Millar,Gillian Mellars,Saher Gill,Simon A. Brown,Megan Sutherland,Michael Laffan,Thomas A. J. McKinnon +8 more
TL;DR: The findings demonstrate that mutations causing an abnormality in the binding of VWF to collagen may contribute to clinically significant bleeding symptoms and propose that isolated collagen-binding defects are classified as a distinct subtype of von Willebrand disease.
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Detection of known haemophilia B mutations and carrier testing by microarray.
Kaimin Chan,Werasak Sasanakul,Gillian Mellars,Ampaiwan Chuansumrit,David J. Perry,Christine A. Lee,Man-Sim Wong,Tai-Kwong Chan,Vivian Chan +8 more
TL;DR: A FIX array is designed to simultaneously analyse 69 mutations found in British, Thai and Chinese patients using the allele-specific arrayed primer extension (AS-APEX) technology and has a 100% accuracy in the detection of both affected subjects and carriers in families with known mutations.
Mutation detection by Southern blotting.
Gillian Mellars,Keith Gomez +1 more
TL;DR: The Southern blot was eponymously named after Edward Southern and that subsequent methods based loosely on similar principles were named using a play on his surname (western and northern blot).
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Characterisation of W1745C and S1783A, Two Novel Collagen Binding Defects in the A3 Domain of Von Willebrand Factor
Anne Riddell,Keith Gomez,Carolyn M. Millar,Gillian Mellars,Simon A. Brown,Saher Gill,Michael Laffan,Thomas A. J. McKinnon +7 more
TL;DR: The findings demonstrate that type 2 VWD may be arise from mutations in A3 causing abnormal collagen binding without other functional defects or abnormalities in multimer formation, and hypothesised that W1745 and Y1780 participate in an internal aromatic interaction that helps to maintain the structural configuration of A3.
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