Items where Division is "Current Faculties > Faculty of Medicine > Human Development and Health > Human Genetics and Genomic Medicine
Human Development and Health > Human Genetics and Genomic Medicine" and Year is 2024
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Number of items: 15.
A case of mosaic deletion of paternally‐inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under‐expression as a cause of growth restriction - Ahmed S.N. Alhendi, Gabriella Gazdagh, Derek Lim, Dominic McMullan, Michael Wright, I. Karen Temple, Justin H. Davies and Deborah J.G. Mackay
Type: Article
| 2024
| Item availability restricted.
Markers of adipose tissue fibrogenesis associate with clinically significant liver fibrosis and are unchanged by synbiotic treatment in patients with NAFLD - Josh Bilson, Carolina J. Oquendo, James Read, Eleonora Scorletti, Paul R. Afolabi, Jenny Lord, Laure B. Bindels, Giovanni Targher, Sumeet Mahajan, Diana Baralle, Philip C. Calder, Christopher D. Byrne and Jaswinder K. Sethi
Type: Article
| 2024
Pharmacogenomic assessment of genes implicated in thiopurine metabolism and toxicity in a UK cohort of paediatric patients with inflammatory bowel disease - Tracy Coelho, Guo Cheng and Sophie Lewis
Type: Article
| 2024
| Item availability restricted.
Identification of eczema clusters and their association with filaggrin and atopic comorbidities: analysis of five birth cohorts - Sadia Haider, Raquel Granell, John A. Curtin, John W. Holloway, Sara Fontanella, Syed Hasan Arshad, Clare S. Murray, Paul Cullinan, Stephen Turner, Graham Roberts, Angela Simpson and Adnan Custovic
Type: Article
| 2024
Type: Dataset
| 2024
| University of Southampton
A Pregnancy and Childhood Epigenetics Consortium (PACE) meta-analysis highlights potential relationships between birth order and neonatal blood DNA methylation - Shaobo Li, Natalia Spitz and Akram Ghantous
Type: Article
| 2024
Body composition and metabolism in adults with molecularly-confirmed Silver-Russell syndrome - Oluwakemi Lokulo-Sodipe, Hazel M. Inskip, Christopher D. Byrne, Jenny Child, Emma L. Wakeling, Deborah J.G. Mackay, I. Karen Temple and Justin H. Davies
Type: Article
| 2024
Predicting the impact of rare variants on RNA splicing in CAGI6 - Jenny Lord, Carolina Jaramillo Oquendo, Htoo A. Wai, Andrew G.L. Douglas, David J. Bunyan, Yaqiong Wang, Zhiqiang Hu, Zishuo Zeng, Daniel Danis, Panagiotis Katsonis, Amanda Williams, Oliver Lichtarge, Yuchen Chang, Richard D. Bagnall, Stephen M. Mount, Brynja Matthiasardottir, Chiaofeng Lin, Thomas van Overeem Hansen, Raphael Leman, Alexandra Martins, Claude Houdayer, Sophie Krieger, Constantina Bakolitsa, Yisu Peng, Akash Kamandula, Predrag Radivojac and Diana Baralle
Type: Article
| 2024
Diagnosis and evaluation of prognosis of myelofibrosis: a British Society for Haematology guideline - Donal P. Mclornan, Anna L. Godfrey, Anna Green, Rebecca Frewin, Siamak Arami, Jessica Brady, Nauman M. Butt, Catherine Cargo, Joanne Ewing, Sebastian Francis, Mamta Garg, Claire Harrison, Andrew Innes, Alesia Khan, Steve Knapper, Jonathan Lambert, Adam Mead, Andrew Mcgregor, Pratap Neelakantan, Bethan Psaila, Tim C.P. Somervaille, Claire Woodley, Jyoti Nangalia, Nicholas C.P. Cross and Mary Frances Mcmullin
Type: Article
| 2024
| Item availability restricted.
The management of myelofibrosis: a British Society for Haematology guideline - Donal P. Mclornan, Bethan Psaila, Joanne Ewing, Andrew Innes, Siamak Arami, Jessica Brady, Nauman M. Butt, Catherine Cargo, Nicholas C.P. Cross, Sebastian Francis, Rebecca Frewin, Mamta Garg, Anna L. Godfrey, Anna Green, Alesia Khan, Steve Knapper, Jonathan Lambert, Andrew McGregor, Mary Francis McMullin, Jyoti Nangalia, Pratap Neelakantan, Claire Woodley, Adam Mead, Tim C.P. Somervaille and Claire N. Harrison
Type: Article
| 2024
| Item availability restricted.
Poor applicability of currently available prognostic scoring systems for prediction of outcome in KIT D816V-negative advanced systemic mastocytosis - Nicole Naumann, Martina Rudelius, Johannes Lübke, Deborah Christen, Jakob Bresser, Karl Sotlar, Georgia Metzgeroth, Alice Fabarius, Wolf-Karsten Hofmann, Jens Panse, Hans-Peter Horny, Nicholas C.P. Cross, Andreas Reiter and Juliana Schwaab
Type: Article
| 2024
Membrane lipid composition of bronchial epithelial cells influences antiviral responses during rhinovirus infection - Madhuriben H. Panchal, Emily J. Swindle and Theresa J. Pell
Type: Article
| 2024
| Item availability restricted.
Capture-based targated sequencing using a T cell control in myeloid malignancies and idiopathic cytopenias - G. Pietka, C. De Lord, G. Matthias, B. Cheung, S. Atwal, M. Furtado, J.O. Cullis, E. Grey-Davies, S. Narayanan, A. McGregor, M. Kilner, J. Bosworth, M. McMullin, T. Coats, A. Parcharidou, J. Cavenagh, J. Byrne, S. Iyengar, K. Mohammed, N.C.P. Cross, M. Hubank, S. Ribeiro, J. Khorashad, D. Wren, S. O'Connor and D.C. Taussig
Type: Article
| 2024
| Item availability restricted.
A gene pathogenicity tool ‘GenePy’ identifies missed biallelic diagnoses in the 100,000 Genomes Project - Eleanor G. Seaby, Gary Leggatt, Guo Cheng, N. Simon Thomas, James J. Ashton, Imogen Stafford, Diana Baralle, Heidi L. Rehm, Anne O’Donnell-Luria and Sarah Ennis
Type: Article
| 2024
Obstructive and restrictive spirometry from school age to adulthood: three birth cohort studies - Anhar Ullah, Raquel Granell, Sadia Haider, Lesley Lowe, Sara Fontanella, Hasan Arshad, Clare S. Murray, Steve Turner, John W. Holloway, Angela Simpson, Graham Roberts and Adnan Custovic
Type: Article
| 2024