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pro vyhledávání: '"Schoenmakers, N"'
Akademický článek
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Akademický článek
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Autor:
Nicholas, AK, Jaleel, S, Lyons, G, Schoenmakers, E, Dattani, MT, Crowne, E, Bernhard, B, Kirk, J, Roche, EF, Chatterjee, VK, Schoenmakers, N
Publikováno v:
Clinical Endocrinology
Summary Objective Homozygous mutations in the TSH beta subunit gene (TSHB) result in severe, isolated, central congenital hypothyroidism (CCH). This entity evades diagnosis in TSH‐based congenital hypothyroidism (CH) screening programmes in the UK
Autor:
Haworth, S, Shapland, CY, Hayward, C, Prins, BP, Felix, JF, Medina-Gomez, C, Rivadeneira, F, Wang, C, Ahluwalia, TS, Vrijheid, M, Guxens, M, Sunyer, J, Tachmazidou, I, Walter, K, Iotchkova, V, Jackson, A, Cleal, L, Huffmann, J, Min, JL, Sass, L, Timmers, PRHJ, Al Turki, S, Anderson, CA, Anney, R, Antony, D, Artigas, MS, Ayub, M, Bala, S, Barrett, JC, Barroso, I, Beales, P, Bentham, J, Bhattacharya, S, Birney, E, Blackwood, D, Bobrow, M, Bochukova, E, Bolton, PF, Bounds, R, Boustred, C, Breen, G, Calissano, M, Carss, K, Charlton, R, Chatterjee, K, Chen, L, Ciampi, A, Cirak, S, Clapham, P, Clement, G, Coates, G, Cocca, M, Collier, DA, Cosgrove, C, Cox, T, Craddock, N, Crooks, L, Curran, S, Curtis, D, Daly, A, Danecek, P, Day, INM, Day-Williams, A, Dominiczak, A, Down, T, Du, Y, Dunham, I, Durbin, R, Edkins, S, Ekong, R, Ellis, P, Evans, DM, Farooqi, IS, Fitzpatrick, DR, Flicek, P, Floyd, J, Foley, AR, Franklin, CS, Futema, M, Gallagher, L, Gaunt, TR, Geihs, M, Geschwind, D, Greenwood, CMT, Griffin, H, Grozeva, D, Guo, X, Gurling, H, Hart, D, Hendricks, AE, Holmans, P, Howie, B, Huang, J, Huang, L, Hubbard, T, Humphries, SE, Hurles, ME, Hysi, P, Jackson, DK, Jamshidi, Y, Joyce, C, Karczewski, KJ, Kaye, J, Keane, T, Kemp, JP, Kennedy, K, Kent, A, Keogh, J, Khawaja, F, van Kogelenberg, M, Kolb-Kokocinski, A, Lachance, G, Langford, C, Lawson, D, Lee, I, Lek, M, Li, R, Li, Y, Liang, J, Lin, H, Liu, R, Lonnqvist, J, Lopes, LR, Lopes, M, MacArthur, DG, Mangino, M, Marchini, J, Marenne, G, Maslen, J, Mathieson, I, McCarthy, S, McGuffin, P, McIntosh, AM, McKechanie, AG, McQuillin, A, Memari, Y, Metrustry, S, Migone, N, Mitchison, HM, Moayyeri, A, Morris, A, Morris, J, Muddyman, D, Muntoni, F, Northstone, K, O'Donovan, MC, O'Rahilly, S, Onoufriadis, A, Oualkacha, K, Owen, MJ, Palotie, A, Panoutsopoulou, K, Parker, V, Parr, JR, Paternoster, L, Paunio, T, Payne, F, Payne, SJ, Perry, JRB, Pietilainen, O, Plagnol, V, Pollitt, RC, Porteous, DJ, Povey, S, Quail, MA, Quaye, L, Raymond, FL, Rehnstrom, K, Richards, JB, Ridout, CK, Ring, S, Ritchie, GRS, Roberts, N, Robinson, RL, Savage, DB, Scambler, P, Schiffels, S, Schmidts, M, Schoenmakers, N, Scott, RH, Semple, RK, Serra, E, Sharp, SI, Shaw, A, Shihab, HA, Shin, S-Y, Skuse, D, Small, KS, Smee, C, Smith, BH, Soranzo, N, Southam, L, Spasic-Boskovic, O, Spector, TD, St Clair, D, Stalker, J, Stevens, E, Sun, J, Surdulescu, G, Suvisaari, J, Syrris, P, Taylor, R, Tian, J, Tobin, MD, Valdes, AM, Vandersteen, AM, Vijayarangakannan, P, Visscher, PM, Wain, LV, Walters, JTR, Wang, G, Wang, J, Wang, Y, Ward, K, Wheeler, E, Whyte, T, Williams, HJ, Williamson, KA, Wilson, C, Wilson, SG, Wong, K, Xu, C, Yang, J, Zhang, F, Zhang, P, Zheng, H-F, Smith, GD, Fisher, SE, Wilson, JF, Cole, TJ, Fernandez-Orth, D, Bonnelykke, K, Bisgaard, H, Pennell, CE, Jaddoe, VWV, Dedoussis, G, Timpson, N, Zeggini, E, Vitart, V, St Pourcain, B, UK10K Consortium
Publikováno v:
Nature Communications, 10:357. Nature Publishing Group
Cranial growth and development is a complex process which affects the closely related traits of head circumference (HC) and intracranial volume (ICV). The underlying genetic influences shaping these traits during the transition from childhood to adul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6520f507a01a43d0aeb27c426c74275b
https://orca.cardiff.ac.uk/id/eprint/128295/1/s41467-018-07863-x.pdf
https://orca.cardiff.ac.uk/id/eprint/128295/1/s41467-018-07863-x.pdf
Autor:
Koulouri, O, Nicholas, AK, Schoenmakers, E, Mokrosinski, J, Lane, F, Cole, T, Kirk, J, Farooqi, IS, Chatterjee, VK, Gurnell, M, Schoenmakers, N
Publikováno v:
The Journal of Clinical Endocrinology and Metabolism
CONTEXT: Isolated central congenital hypothyroidism (CCH) is rare and evades diagnosis on TSH-based congenital hypothyroidism (CH) screening programs in the United Kingdom. Accordingly, genetic ascertainment facilitates diagnosis and treatment of fam
Akademický článek
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Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity
Obesity is a genetically heterogeneous disorder. Using targeted and whole-exome sequencing, we studied 32 human and 87 rodent obesity genes in 2,548 severely obese children and 1,117 controls. We identified 52 variants contributing to obesity in 2% o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::7b08bb7b91876bf8fde80357fb02479e
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3056642
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3056642
Autor:
Joustra, S.D., Heinen, C.A., Schoenmakers, N., Bonomi, M., Ballieux, B.E.P.B., Turgeon, M.O., Bernard, D.J., Fliers, E., Trotsenburg, A.S.P. van, Losekoot, M., Persani, L., Wit, J.M., Biermasz, N.R., Pereira, A.M., Oostdijk, W., IGSF Clinical Care Grp
Publikováno v:
Journal of Clinical Endocrinology and Metabolism, 101(4), 1627-1636
CONTEXT: Mutations in the immunoglobulin superfamily, member 1 (IGSF1) gene cause the X-linked IGSF1 deficiency syndrome consisting of central hypothyroidism, delayed pubertal testosterone rise, adult macroorchidism, variable prolactin deficiency, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::512dc070173c5419f92fba7db9f83147
https://hdl.handle.net/1887/112563
https://hdl.handle.net/1887/112563
Autor:
IGSF1 Clinical Care Group, Joustra, S D, Heinen, C A, Schoenmakers, N, Bonomi, M, Ballieux, B E P B, Turgeon, M-O, Bernard, D J, Fliers, E, van Trotsenburg, A S P, Losekoot, M, Persani, L, Wit, J M, Biermasz, N R, Pereira, A M, Oostdijk, W, De Schepper, Jean
CONTEXT: Mutations in the immunoglobulin superfamily, member 1 (IGSF1) gene cause the X-linked IGSF1 deficiency syndrome consisting of central hypothyroidism, delayed pubertal testosterone rise, adult macroorchidism, variable prolactin deficiency, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3848::3d727dfbd910b6cd40e87018ce5ec031
https://doi.org/10.1210/jc.2015-3880
https://doi.org/10.1210/jc.2015-3880