Search Results - "YATES, 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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Intellectual abilities in tuberous sclerosis complex: risk factors and correlates from the Tuberous Sclerosis 2000 Study by Bolton, P F, Clifford, M, Tye, C, Maclean, C, Humphrey, A, le Maréchal, K, Higgins, J N P, Neville, B G R, Rijsdjik, F, Yates, J R W

“…Tuberous sclerosis complex (TSC) is associated with intellectual disability, but the risk pathways are poorly understood. The Tuberous Sclerosis 2000 Study is…”
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Serum anti-Müllerian hormone and FSH: prediction of live birth and extremes of response in stimulated cycles—implications for individualization of therapy by Nelson, Scott M., Yates, Robin W., Fleming, Richard

“…BACKGROUND Serum concentrations of anti-Müllerian hormone (AMH) correlate with oocyte yield in assisted reproduction treatment (ART) cycles, however,…”
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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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Anti-Müllerian hormone-based approach to controlled ovarian stimulation for assisted conception by Nelson, Scott M., Yates, Robin W., Lyall, Helen, Jamieson, Maybeth, Traynor, Isabel, Gaudoin, Marco, Mitchell, Paul, Ambrose, Pat, Fleming, Richard

“…BACKGROUND Individualization of controlled ovarian stimulation (COS) for assisted conception is complicated by variable ovarian response to follicle…”
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X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits by Kent, L, Emerton, J, Bhadravathi, V, Weisblatt, E, Pasco, G, Willatt, L R, McMahon, R, Yates, J R W

“…X-linked ichthyosis (XLI) (steroid sulfatase deficiency) is caused by deletions or point mutations of the steroid sulfatase (STS) gene on chromosome Xp22.32…”
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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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Clinical and molecular genetics of Stickler syndrome by Snead, Martin P, Yates, John R W

“…Stickler syndrome is an autosomal dominant disorder with characteristic ophthalmological and orofacial features, deafness, and arthritis. Abnormalities 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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Psychosexual effects of three doses of testosterone cycling in normal men by Yates, William R, Perry, Paul J, MacIndoe, John, Holman, Tim, Ellingrod, Vicki

“…Background: Testosterone is receiving increased attention for contraceptive and therapeutic indications. The potential psychosexual side effects of…”
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Structured sedation programme for magnetic resonance imaging examination in children by Keengwe, I. N., Hegde, S., Dearlove, O., Wilson, B., Yates, R. W., Sharples, A.

“…One thousand, eight hundred and fifty‐seven patients underwent magnetic resonance imaging following the establishment of a structured sedation programme…”
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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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