Search Results - "Yates, John R. W"

Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration by Cipriani, Valentina, Lorés-Motta, Laura, He, Fan, Fathalla, Dina, Tilakaratna, Viranga, McHarg, Selina, Bayatti, Nadhim, Acar, İlhan E., Hoyng, Carel B., Fauser, Sascha, Moore, Anthony T., Yates, John R. W., de Jong, Eiko K., Morgan, B. Paul, den Hollander, Anneke I., Bishop, Paul N., Clark, Simon J.

“…Age-related macular degeneration (AMD) is a leading cause of blindness. Genetic variants at the chromosome 1q31.3 encompassing the complement factor H ( CFH ,…”
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Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome) by Meyer, Esther, Lim, Derek, Pasha, Shanaz, Tee, Louise J, Rahman, Fatimah, Yates, John R W, Woods, C Geoffrey, Reik, Wolf, Maher, Eamonn R

“…Beckwith-Wiedemann syndrome (BWS) is a fetal overgrowth and human imprinting disorder resulting from the deregulation of a number of genes, including IGF2 and…”
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Complement C3 Variant and the Risk of Age-Related Macular Degeneration by Yates, John R.W, Sepp, Tiina, Matharu, Baljinder K, Khan, Jane C, Thurlby, Deborah A, Shahid, Humma, Clayton, David G, Hayward, Caroline, Morgan, Joanne, Wright, Alan F, Armbrecht, Ana Maria, Dhillon, Baljean, Deary, Ian J, Redmond, Elizabeth, Bird, Alan C, Moore, Anthony T

“…A variant on complement factor 3 is associated with age-related macular degeneration, with a population attributable risk of 22%. This finding underlines the…”
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The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management by Yates, John RW, MacLean, Cathy, Higgins, J Nicholas P, Humphrey, Ayla, le Maréchal, Kate, Clifford, Michelle, Carcani-Rathwell, Iris, Sampson, Julian R, Bolton, Patrick F

“…Aims The Tuberous Sclerosis 2000 Study is the first comprehensive longitudinal study of tuberous sclerosis (TS) and aims to identify factors that determine…”
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Biological markers of intellectual disability in tuberous sclerosis by Raznahan, Armin, Higgins, Nicholas P, Griffiths, Paul D, Humphrey, Ayla, Yates, John R W, Bolton, Patrick F

“…Intellectual disability (ID) is highly prevalent in tuberous sclerosis (TS). Putative neurobiological risk factors include indices of cortical tuber (CT) load…”
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Association of C-Reactive Protein Genetic Polymorphisms With Late Age-Related Macular Degeneration by Cipriani, Valentina, Hogg, Ruth E, Sofat, Reecha, Moore, Anthony T, Webster, Andrew R, Yates, John R W, Fletcher, Astrid E

“…C-reactive protein (CRP) is a circulating inflammatory marker associated with late age-related macular degeneration (AMD). It remains uncertain whether the…”
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Tuberous sclerosis by YATES, John R. W

“…Tuberous sclerosis is a serious inherited disease which poses major challenges for affected families and those caring for them. Identification of the genes…”
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Age-related macular degeneration: the importance of family history as a risk factor by Shahid, Humma, Khan, Jane C, Cipriani, Valentina, Sepp, Tiina, Matharu, Baljinder K, Bunce, Catey, Harding, Simon P, Clayton, David G, Moore, Anthony T, Yates, John R W

“…Family history is considered a risk factor for age-related macular degeneration (AMD). With the advent of effective therapy for the disease, the importance of…”
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Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration by Ansari, Morad, McKeigue, Paul M, Skerka, Christine, Hayward, Caroline, Rudan, Igor, Vitart, Veronique, Polasek, Ozren, Armbrecht, Ana-Maria, Yates, John R W, Vatavuk, Zoran, Bencic, Goran, Kolcic, Ivana, Oostra, Ben A, Van Duijn, Cornelia M, Campbell, Susan, Stanton, Chloe M, Huffman, Jennifer, Shu, Xinhua, Khan, Jane C, Shahid, Humma, Harding, Simon P, Bishop, Paul N, Deary, Ian J, Moore, Anthony T, Dhillon, Baljean, Rudan, Pavao, Zipfel, Peter F, Sim, Robert B, Hastie, Nicholas D, Campbell, Harry, Wright, Alan F

“…It is a longstanding puzzle why non-coding variants in the complement factor H (CFH) gene are more strongly associated with age-related macular degeneration…”
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Intellectual development before and after the onset of infantile spasms: A controlled prospective longitudinal study in tuberous sclerosis by Humphrey, Ayla, MacLean, Cathy, Ploubidis, George B., Granader, Yael, Clifford, Michelle, Haslop, Maisy, Neville, Brian G.R., Yates, John R.W., Bolton, Patrick F.

“…Summary Objective Infantile spasms (IS) have long been suspected to be a risk factor for impairment in intellectual development, but there are no controlled,…”
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Complement Factor H Variant Y402H Is a Major Risk Determinant for Geographic Atrophy and Choroidal Neovascularization in Smokers and Nonsmokers by Sepp, Tiina, Khan, Jane C, Thurlby, Deborah A, Shahid, Humma, Clayton, David G, Moore, Anthony T, Bird, Alan C, Yates, John R. W, Genetic Factors in AMD Study Group

“…The complement factor H (CFH) gene polymorphism Y402H (1277T-->C) has been associated with susceptibility to age-related macular degeneration (AMD). The…”
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Analysis of copy number variation at DMBT1 and age-related macular degeneration by Polley, Shamik, Cipriani, Valentina, Khan, Jane C, Shahid, Humma, Moore, Anthony T, Yates, John R W, Hollox, Edward J

“…DMBT1 is a gene that shows extensive copy number variation (CNV) that alters the number of bacteria-binding domains in the protein and has been shown to…”
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The Early Childhood Epilepsy Severity Scale (E-Chess) by Humphrey, Ayla, Ploubidis, George B, Yates, John R.W, Steinberg, Tami, Bolton, Patrick F

“…Summary Purpose We have developed the Early Childhood Epilepsy Severity Scale (E-Chess) to quantify the severity of epilepsy in infants and young children with…”
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Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations by Cipriani, Valentina, Tierney, Anna, Griffiths, John R., Zuber, Verena, Sergouniotis, Panagiotis I., Yates, John R.W., Moore, Anthony T., Bishop, Paul N., Clark, Simon J., Unwin, Richard D.

“…Age-related macular degeneration (AMD) is a leading cause of vision loss; there is strong genetic susceptibility at the complement factor H (CFH) locus. This…”
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Genetic variation in complement regulators and susceptibility to age-related macular degeneration by Cipriani, Valentina, Matharu, Baljinder K, Khan, Jane C, Shahid, Humma, Stanton, Chloe M, Hayward, Caroline, Wright, Alan F, Bunce, Catey, Clayton, David G, Moore, Anthony T, Yates, John R.W

“…Abstract Objectives Age-related macular degeneration (AMD) is the commonest cause of blindness in Western populations. Risk is influenced by age, genetic and…”
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No evidence of association between complement factor I genetic variant rs10033900 and age-related macular degeneration by Cipriani, Valentina, Matharu, Baljinder K, Khan, Jane C, Shahid, Humma, Hayward, Caroline, Wright, Alan F, Armbrecht, Ana Maria, Dhillon, Baljean, Harding, Simon P, Bishop, Paul N, Bunce, Catey, Clayton, David G, Moore, Anthony T, Yates, John R W

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Long‐term cognitive outcomes in tuberous sclerosis complex by Tye, Charlotte, Mcewen, Fiona S, Liang, Holan, Underwood, Lisa, Woodhouse, Emma, Barker, Edward D, Sheerin, Fintan, Yates, John R W, Bolton, Patrick F, Higgins, N, Attard, V, Clarke, A, Elmslie, FV, Saggar, AK, Baines, D, Kerr, BA, Brayne, C, Carcani‐Rathwell, I, Connolly, C, Clifford, M, Lydon, A, Oluwo, F, Rogers, H, Srivastava, C, Steenbruggen, J, Cook, JA, Falconer, C, Davies, DM, Sampson, JR, Fryer, AE, Haslop, M, Granader, Y, Griffiths, PD, Hunt, A, Lam, WWK, Kingswood, JC, Miedzybrodzka, ZH, Crawford, H, Morrison, PJ, O'Callaghan, FJK, Philip, SG, Seri, S, Sheehan‐Dare, R, Shepherd, CH

“…Aim To investigate the interdependence between risk factors associated with long‐term intellectual development in individuals with tuberous sclerosis complex…”
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Evidence of association of APOE with age-related macular degeneration - a pooled analysis of 15 studies by McKay, Gareth J., Patterson, Chris C., Chakravarthy, Usha, Dasari, Shilpa, Klaver, Caroline C., Vingerling, Johannes R., Ho, Lintje, de Jong, Paulus T.V.M., Fletcher, Astrid E., Young, Ian S., Seland, Johan H., Rahu, Mati, Soubrane, Gisele, Tomazzoli, Laura, Topouzis, Fotis, Vioque, Jesus, Hingorani, Aroon D., Sofat, Reecha, Dean, Michael, Sawitzke, Julie, Seddon, Johanna M., Peter, Inga, Webster, Andrew R., Moore, Anthony T., Yates, John R.W., Cipriani, Valentina, Fritsche, Lars G., Weber, Bernhard H.F., Keilhauer, Claudia N., Lotery, Andrew J., Ennis, Sarah, Klein, Michael L., Francis, Peter J., Stambolian, Dwight, Orlin, Anton, Gorin, Michael B., Weeks, Daniel E., Kuo, Chia-Ling, Swaroop, Anand, Othman, Mohammad, Kanda, Atsuhiro, Chen, Wei, Abecasis, Goncalo R., Wright, Alan F., Hayward, Caroline, Baird, Paul N., Guymer, Robyn H., Attia, John, Thakkinstian, Ammarin, Silvestri, Giuliana

“…Age‐related macular degeneration (AMD) is the most common cause of incurable visual impairment in high‐income countries. Previous studies report inconsistent…”
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Complement factor D in age-related macular degeneration by Stanton, Chloe M, Yates, John R W, den Hollander, Anneke I, Seddon, Johanna M, Swaroop, Anand, Stambolian, Dwight, Fauser, Sascha, Hoyng, Carel, Yu, Yi, Atsuhiro, Kanda, Branham, Kari, Othman, Mohammad, Chen, Wei, Kortvely, Elod, Chalmers, Kevin, Hayward, Caroline, Moore, Anthony T, Dhillon, Baljean, Ueffing, Marius, Wright, Alan F

“…To examine the role of complement factor D (CFD) in age-related macular degeneration (AMD) by analysis of genetic association, copy number variation, and…”
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Genetic variants within chromosome 4q28.3 are not reproducibly associated with Age‐related Macular Degeneration (AMD) by Gibson, Jane, Griffiths, Helen, Collins, Andrew, Yates, John RW, Folk, James C, East, Jade S, Lotery, Andrew J, Ennis, Sarah

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