Search Results - "Roy, B. A."

A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias by Roy, Noémi B. A., Wilson, Edward A., Henderson, Shirley, Wray, Katherine, Babbs, Christian, Okoli, Steven, Atoyebi, Wale, Mixon, Avery, Cahill, Mary R., Carey, Peter, Cullis, Jonathan, Curtin, Julie, Dreau, Helene, Ferguson, David J. P., Gibson, Brenda, Hall, Georgina, Mason, Joanne, Morgan, Mary, Proven, Melanie, Qureshi, Amrana, Sanchez Garcia, Joaquin, Sirachainan, Nongnuch, Teo, Juliana, Tedgård, Ulf, Higgs, Doug, Roberts, David, Roberts, Irene, Schuh, Anna

“…Summary Accurate diagnosis of rare inherited anaemias is challenging, requiring a series of complex and expensive laboratory tests. Targeted…”
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Direct correction of haemoglobin E β-thalassaemia using base editors by Badat, Mohsin, Ejaz, Ayesha, Hua, Peng, Rice, Siobhan, Zhang, Weijiao, Hentges, Lance D., Fisher, Christopher A., Denny, Nicholas, Schwessinger, Ron, Yasara, Nirmani, Roy, Noemi B. A., Issa, Fadi, Roy, Andi, Telfer, Paul, Hughes, Jim, Mettananda, Sachith, Higgs, Douglas R., Davies, James O. J.

“…Haemoglobin E (HbE) β-thalassaemia causes approximately 50% of all severe thalassaemia worldwide; equating to around 30,000 births per year. HbE β-thalassaemia…”
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Richer than Gold: the fungal biodiversity of Reserva Los Cedros, a threatened Andean cloud forest by Vandegrift, R., Newman, D. S., Dentinger, B. T. M., Batallas-Molina, R., Dueñas, N., Flores, J., Goyes, P., Jenkinson, T. S., McAlpine, J., Navas, D., Policha, T., Thomas, D. C., Roy, B. A.

“…Background Globally, many undescribed fungal taxa reside in the hyperdiverse, yet undersampled, tropics. These species are under increasing threat from habitat…”
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Cardiac iron overload in transfusion‐dependent patients with myelodysplastic syndromes by Roy, Noémi B. A., Myerson, Saul, Schuh, Anna H., Bignell, Patricia, Patel, Roger, Wainscoat, Jim S., McGowan, Simon, Marchi, Emanuele, Atoyebi, Wale, Littlewood, Tim, Chacko, Joseph, Vyas, Paresh, Killick, Sally B.

“…Summary Transfusion‐dependent myelodysplastic (MDS) patients are prone to iron overload. We evaluated 43 transfused MDS patients with T2* magnetic resonance…”
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Bond Properties of GFRP Laminate with Heat-Damaged Concrete by Danie Roy, A. B, Sharma, U. K, Bhargava, P

“…AbstractConcrete, when exposed to elevated temperatures, undergoes deterioration and loses much of its strength. The strengthening of heat-damaged concrete is…”
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PATTERNS OF ASSOCIATION BETWEEN CRUCIFERS AND THEIR FLOWER-MIMIC PATHOGENS: HOST JUMPS ARE MORE COMMON THAN COEVOLUTION OR COSPECIATION by Roy, B. A

“…Morphological and molecular phylogenies of animal parasites have often shown parallel cladogenesis, supporting hypotheses of coevolution. Few studies of the…”
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The Use of Next‐generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper by Roy, Noémi B. A., Da Costa, Lydie, Russo, Roberta, Bianchi, Paola, Mar Mañú‐Pereira, Maria, Fermo, Elisa, Andolfo, Immacolata, Clark, Barnaby, Proven, Melanie, Sanchez, Mayka, Wijk, Richard, Zwaag, Bert, Layton, Mark, Rees, David, Iolascon, Achille

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Loss of mesenchymal bone morphogenetic protein signaling leads to development of reactive stroma and initiation of the gastric neoplastic cascade by Roy, Sébastien A. B., Allaire, Joannie M., Ouellet, Camille, Maloum-Rami, Faiza, Pomerleau, Véronique, Lemieux, Étienne, Babeu, Jean-Philippe, Rousseau, Jasmin, Paquet, Marilène, Garde-Granger, Perrine, Boudreau, François, Perreault, Nathalie

“…Bmps are morphogens involved in various gastric cellular functions. Studies in genetically-modified mice have shown that Bmp disruption in gastric epithelial…”
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EVOLUTIONARY DYNAMICS OF PATHOGEN RESISTANCE AND TOLERANCE by Roy, B. A., Kirchner, J. W.

“…— Host organisms can respond to the threat of disease either through resistance defenses (which inhibit or limit infection) or through tolerance strategies…”
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The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I by Roy, Noémi B. A., Babbs, Christian

“…Summary Congenital dyserythropoietic anaemia type I (CDA‐I) is one of a heterogeneous group of inherited anaemias characterised by ineffective erythropoiesis…”
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Medical science must address health disparities amongst different ethnic groups by Igbineweka, Norris E., Tshuma, Nomathamsanqa, Roy, Noémi B. A.

“…COVID-19 vaccine hesitancy amongst Black, Asian and minority ethnic (BAME) groups has recently been well observed, and is symptomatic of wider health…”
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Iron overload in inherited anaemias: why one size can't fit all by Roy, Noémi B. A.

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Evolution in stressful environments II: adaptive value and costs of plasticity in response to low light in Sinapis arvensis by Steinger, T., Roy, B. A., Stanton, M. L.

“…Plants possess a remarkable capacity to alter their phenotype in response to the highly heterogeneous light conditions they commonly encounter in natural…”
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Tectono-metamorphic and geochronologic studies from Sandmata complex, northwest Indian shield: Implications on exhumation of late-palaeoproterozoic granulites in an archaean-early palaeoproterozoic granite-gneiss terrane by Roy, A. B., Kröner, Alfred, Rathore, Sanjeev, Laul, Vivek, Purohit, Ritesh

“…Several bodies of granulites comprising charnockite, charno-enderbite, pelitic and calc-silicate rocks occur within an assemblage of granite gneiss/granitoid,…”
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Complex dynamics of a four neuron network model having a pair of short-cut connections with multiple delays by Kundu, Amitava, Das, Pritha, Roy, A. B.

“…This paper deals with dynamic behaviors on Hopfield type of ring neural network of four neurons having a pair of short-cut connections with multiple time…”
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Single-cell O₂ exchange imaging shows that cytoplasmic diffusion is a dominant barrier to efficient gas transport in red blood cells by Richardson, Sarah L., Hulikova, Alzbeta, Proven, Melanie, Hipkiss, Ria, Akanni, Magbor, Roy, Noémi B. A., Swietach, Pawel

“…Disorders of oxygen transport are commonly attributed to inadequate carrying capacity (anemia) but may also relate to inefficient gas exchange by red blood…”
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Significant haemoglobinopathies: A guideline for screening and diagnosis: A British Society for Haematology Guideline by Bain, Barbara J., Daniel, Yvonne, Henthorn, Joan, de la Salle, Barbara, Hogan, Amanda, Roy, Noémi B. A., Mooney, Ciaran, Langabeer, Lisa, Rees, David C.

“…Summary Antenatal screening/testing of pregnant women should be carried out according to the guidelines of the National Health Service (NHS) Sickle Cell and…”
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Analysis of hedge fund strategies using slack-based DEA models by Kumar, U D, Roy, A B, Saranga, H, Singal, K

“…Hedge funds have made a significant impact on the performance of world financial markets in recent times. Our objective in this paper is to develop a robust…”
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Protecting vulnerable patients with inherited anaemias from unnecessary death during the COVID‐19 pandemic by Roy, Noémi B. A., Telfer, Paul, Eleftheriou, Perla, de la Fuente, Josu, Drasar, Emma, Shah, Farrukh, Roberts, David, Atoyebi, Wale, Trompeter, Sara, Layton, D. Mark, Lugthart, Sanne, Stuart‐Smith, Sara, Chakravorty, Subarna, Wright, Josh, Porter, John, Inusa, Baba, Howard, Jo

“…Summary With the developing COVID‐19 pandemic, patients with inherited anaemias require specific advice regarding isolation and changes to usual treatment…”
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Epithelial phosphatase and tensin homolog regulates intestinal architecture and secretory cell commitment and acts as a modifier gene in neoplasia by Langlois, Marie-Josée, Roy, Sébastien A.B, Auclair, Benoit A, Jones, Christine, Boudreau, François, Carrier, Julie C, Rivard, Nathalie, Perreault, Nathalie

“…Phosphatase and tensin homolog (PTEN), a negative regulator of the phosphatidylinositol 3-kinase/Akt pathway, is one of the most frequently mutated/deleted…”
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