Search Results - Quarrell, Oliver

Primer of Genetic Analysis by Quarrell, Oliver

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The Prevalence of Juvenile Huntington's Disease: A Review of the Literature and Meta-Analysis by Quarrell, Oliver, O'Donovan, Kirsty L, Bandmann, Oliver, Strong, Mark

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Responding to the increased genetic risk associated with customary consanguineous marriage among minority ethnic populations: lessons from local innovations in England by Salway, Sarah, Ali, Parveen, Ratcliffe, Giles, Such, Elizabeth, Khan, Nasaim, Kingston, Helen, Quarrell, Oliver

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Managing juvenile Huntington’s disease by Quarrell, Oliver W. J., Nance, Martha A., Nopoulos, Peggy, Paulsen, Jane S., Smith, Jonathan A., Squitieri, Ferdinando

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Current Pharmacological Management in Juvenile Huntington’s Disease by Robertson, Lisa, Santini, Helen, O'Donovan, Kirsty L, Squitieri, Ferdinando, Barker, Roger A, Rakowicz, Maria, Landwehrmeyer, G. Bernhard, Quarrell, Oliver

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22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium by Baig, Sheharyar S, Strong, Mark, Rosser, Elisabeth, Taverner, Nicola V, Glew, Ruth, Miedzybrodzka, Zosia, Clarke, Angus, Craufurd, David, Quarrell, Oliver W

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A case-note review of continued pregnancies found to be at a high risk of Huntington’s disease: considerations for clinical practice by Wadrup, Felicity, Holden, Simon, MacLeod, Rhona, Miedzybrodzka, Zosia, Németh, Andrea H., Owens, Shan, Pasalodos, Sara, Quarrell, Oliver, Clarke, Angus J.

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Discrepancies in reporting the CAG repeat lengths for Huntington's disease by Quarrell, Oliver W, Handley, Olivia, O'Donovan, Kirsty, Dumoulin, Christine, Ramos-Arroyo, Maria, Biunno, Ida, Bauer, Peter, Kline, Margaret, Landwehrmeyer, G Bernhard

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Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis by Burkitt Wright, Emma MM, Sach, Emma, Sharif, Saba, Quarrell, Oliver, Carroll, Thomas, Whitehouse, Richard W, Upadhyaya, Meena, Huson, Susan M, Evans, D Gareth R

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22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium by Baig, Sheharyar S, Strong, Mark, Rosser, Elisabeth, Taverner, Nicola V, Glew, Ruth, Miedzybrodzka, Zosia, Clarke, Angus, Craufurd, David, Disease Prediction Consortium, UK Huntington's, Quarrell, Oliver W

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Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome by Hammond, Peter, Hannes, Femke, Suttie, Michael, Devriendt, Koen, Vermeesch, Joris Robert, Faravelli, Francesca, Forzano, Francesca, Parekh, Susan, Williams, Steve, McMullan, Dominic, South, Sarah T, Carey, John C, Quarrell, Oliver

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A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia by Rautengarten, Carsten, Quarrell, Oliver W, Stals, Karen, Caswell, Richard C, De Franco, Elisa, Baple, Emma, Burgess, Nadia, Jokhi, Roobin, Heazlewood, Joshua L, Offiah, Amaka C, Ebert, Berit, Ellard, Sian

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Opposite effects on facial morphology due to gene dosage sensitivity by Hammond, Peter, McKee, Shane, Suttie, Michael, Allanson, Judith, Cobben, Jan-Maarten, Maas, Saskia M., Quarrell, Oliver, Smith, Ann C. M., Lewis, Suzanne, Tassabehji, May, Sisodiya, Sanjay, Mattina, Teresa, Hennekam, Raoul

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Characterization of Gastric Mucosa Biopsies Reveals Alterations in Huntington's Disease by McCourt, Andrew C, O'Donovan, Kirsty L, Ekblad, Eva, Sand, Elin, Craufurd, David, Rosser, Anne, Sanders, David, Stoy, Nicholas, Rickards, Hugh, Wierup, Nils, Bates, Gillian P., Björkqvist, Maria, Quarrell, Oliver

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Predictive genetic testing for Motor neuron disease: time for a guideline? by McNeill, Alisdair, Amador, Maria-del-Mar, Bekker, Hilary, Clarke, Angus, Crook, Ashley, Cummings, Cathy, McEwen, Alison, McDermott, Christopher, Quarrell, Oliver, Renieri, Alessandra, Roggenbuck, Jennifer, Salmon, Kristiana, Volk, Alexander, Weishaupt, Jochen

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The personal experience of parenting a child with Juvenile Huntington's Disease: perceptions across Europe by Eatough, Virginia, Santini, Helen, Eiser, Christine, Goller, Marie-Louise, Krysa, Wioletta, de Nicola, ‘Annunziata', Paduanello, Matteo, Petrollini, Martina, Rakowicz, Maria, Squitieri, Ferdinando, Tibben, Aad, Lee Weille, Katie, Landwehrmeyer, Bernhard, Quarrell, Oliver, Smith, Jonathan A

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Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism by Matthews, Harold S., Palmer, Richard L., Baynam, Gareth S., Quarrell, Oliver W., Klein, Ophir D., Spritz, Richard A., Hennekam, Raoul C., Walsh, Susan, Shriver, Mark, Weinberg, Seth M., Hallgrimsson, Benedikt, Hammond, Peter, Penington, Anthony J., Peeters, Hilde, Claes, Peter D.

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Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT‐like” syndrome in children by Hodgson, Joshua, Ruiz‐Llorente, Lidia, McDonald, Jamie, Quarrell, Oliver, Ugonna, Kelechi, Bentham, James, Mason, Rebecca, Martin, Jennifer, Moore, David, Bergstrom, Katie, Bayrak‐Toydemir, Pinar, Wooderchak‐Donahue, Whitney, Morrell, Nicholas W., Condliffe, Robin, Bernabeu, Carmelo, Upton, Paul D.

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Reduced penetrance alleles for Huntington's disease: a multi‐centre direct observational study by Quarrell, Oliver W J, Rigby, Alan S, Barron, L, Crow, Y, Dalton, A, Dennis, N, Fryer, A E, Heydon, F, Kinning, E, Lashwood, A, Losekoot, M, Margerison, L, McDonnell, S, Morrison, P J, Norman, A, Peterson, M, Raymond, F L, Simpson, S, Thompson, E, Warner, J

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Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations by Jones, Gabriela E, Ostergaard, Pia, Moore, Anthony T, Connell, Fiona C, Williams, Denise, Quarrell, Oliver, Brady, Angela F, Spier, Isabel, Hazan, Filiz, Moldovan, Oana, Wieczorek, Dagmar, Mikat, Barbara, Petit, Florence, Coubes, Christine, Saul, Robert A, Brice, Glen, Gordon, Kristiana, Jeffery, Steve, Mortimer, Peter S, Vasudevan, Pradeep C, Mansour, Sahar

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