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1دورية أكاديمية
المؤلفون: Lokulo-Sodipe, O, Ballard, L, Child, J, Inskip, HM, Byrne, CD, Ishida, M, Moore, GE, Wakeling, EL, Fenwick, A, Mackay, DJG, Davies, JH, Temple, IK
المصدر: Journal of Medical Genetics (2020) (In press).
مصطلحات موضوعية: Silver Russell syndrome, imprinting, short stature, uniparental disomy
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10092223/1/jmedgenet-2019-106561.full.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10092223Test/
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2دورية أكاديمية
المؤلفون: Jeffries, AR, Maroofian, R, Salter, CG, Chioza, BA, Cross, HE, Patton, MA, Dempster, E, Temple, IK, Mackay, DJG, Rezwan, FI, Aksglaede, L, Baralle, D, Dabir, T, Hunter, MF, Kamath, A, Kumar, A, Newbury-Ecob, R, Selicorni, A, Springer, A, Van Maldergem, L, Varghese, V, Yachelevich, N, Tatton-Brown, K, Mill, J, Crosby, AH, Baple, EL
وصف الملف: application/pdf
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/110920/6/Genome%20Res.-2019-Jeffries-1057-66.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/110920/1/Genome%20Res.-2019-Jeffries-gr.243584.118.pdfTest; Jeffries, AR; Maroofian, R; Salter, CG; Chioza, BA; Cross, HE; Patton, MA; Dempster, E; Temple, IK; Mackay, DJG; Rezwan, FI; et al. Jeffries, AR; Maroofian, R; Salter, CG; Chioza, BA; Cross, HE; Patton, MA; Dempster, E; Temple, IK; Mackay, DJG; Rezwan, FI; Aksglaede, L; Baralle, D; Dabir, T; Hunter, MF; Kamath, A; Kumar, A; Newbury-Ecob, R; Selicorni, A; Springer, A; Van Maldergem, L; Varghese, V; Yachelevich, N; Tatton-Brown, K; Mill, J; Crosby, AH; Baple, EL (2019) Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging. Genome Res, 29 (7). pp. 1057-1066. ISSN 1549-5469 https://doi.org/10.1101/gr.243584.118Test SGUL Authors: Maroofian, Reza
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3دورية أكاديمية
المؤلفون: Brioude, F, Kalish, JM, Mussa, A, Foster, AC, Bliek, J, Ferrero, GB, Boonen, SE, Cole, T, Baker, R, Bertoletti, M, Cocchi, G, Coze, C, De Pellegrin, M, Hussain, K, Ibrahim, A, Kilby, MD, Krajewska-Walasek, M, Kratz, CP, Ladusans, EJ, Lapunzina, P, Le Bouc, Y, Maas, SM, Macdonald, F, Õunap, K, Peruzzi, L, Rossignol, S, Russo, S, Shipster, C, Skórka, A, Tatton-Brown, K, Tenorio, J, Tortora, C, Grønskov, K, Netchine, I, Hennekam, RC, Prawitt, D, Tümer, Z, Eggermann, T, Mackay, DJG, Riccio, A, Maher, ER
وصف الملف: application/pdf
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/109710/1/nrendo.2017.166.pdfTest; Brioude, F; Kalish, JM; Mussa, A; Foster, AC; Bliek, J; Ferrero, GB; Boonen, SE; Cole, T; Baker, R; Bertoletti, M; et al. Brioude, F; Kalish, JM; Mussa, A; Foster, AC; Bliek, J; Ferrero, GB; Boonen, SE; Cole, T; Baker, R; Bertoletti, M; Cocchi, G; Coze, C; De Pellegrin, M; Hussain, K; Ibrahim, A; Kilby, MD; Krajewska-Walasek, M; Kratz, CP; Ladusans, EJ; Lapunzina, P; Le Bouc, Y; Maas, SM; Macdonald, F; Õunap, K; Peruzzi, L; Rossignol, S; Russo, S; Shipster, C; Skórka, A; Tatton-Brown, K; Tenorio, J; Tortora, C; Grønskov, K; Netchine, I; Hennekam, RC; Prawitt, D; Tümer, Z; Eggermann, T; Mackay, DJG; Riccio, A; Maher, ER (2018) Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. Nat Rev Endocrinol, 14 (4). pp. 229-249. ISSN 1759-5037 https://doi.org/10.1038/nrendo.2017.166Test SGUL Authors: Tatton-Brown, Katrina Louise
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4دورية أكاديمية
المؤلفون: Wakeling, EL, Brioude, F, Lokulo-Sodipe, O, O'Connell, SM, Salem, J, Bliek, J, Canton, APM, Chrzanowska, KH, Davies, JH, Dias, RP, Dubern, B, Elbracht, M, Giabicani, E, Grimberg, A, Gronskov, K, Koelega, Anita, Jorge, AA, Kagami, M, Linglart, A, Maghnie, M, Mohnike, K, Monk, D, Moore, GE, Murray, PG, Ogata, T, Petit, IO, Russo, S, Said, E, Toumba, M, Tumer, Z, Binder, G, Eggermann, T, Harbison, MD, Temple, IK, Mackay, DJG, Netchine, I
المصدر: Wakeling , EL , Brioude , F , Lokulo-Sodipe , O , O'Connell , SM , Salem , J , Bliek , J , Canton , APM , Chrzanowska , KH , Davies , JH , Dias , RP , Dubern , B , Elbracht , M , Giabicani , E , Grimberg , A , Gronskov , K , Koelega , A , Jorge , AA , Kagami , M , Linglart , A , Maghnie , M , Mohnike , K , Monk , D , Moore , GE , Murray , PG , Ogata , T ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1038/nrendo.2016.138Test
https://pure.eur.nl/en/publications/a32aa766-64f7-46f2-b8d8-e7d257cda93dTest
https://pure.eur.nl/ws/files/47776327/REPUB_108227_OA.pdfTest
http://hdl.handle.net/1765/108227Test -
5دورية أكاديمية
المؤلفون: Eggermann, K, Bliek, J, Brioude, F, Algar, E, Buiting, K, Russo, S, Tumer, Z, Monk, D, Moore, G, Antoniadi, T, Macdonald, F, Netchine, I, Lombardi, P, Soellner, L, Begemann, M, Prawitt, D, Maher, ER, Mannens, M, Riccio, A, Weksberg, R, Lapunzina, P, Gronskov, K, Mackay, DJG, Eggermann, T
العلاقة: pii: ejhg201645; Eggermann, K., Bliek, J., Brioude, F., Algar, E., Buiting, K., Russo, S., Tumer, Z., Monk, D., Moore, G., Antoniadi, T., Macdonald, F., Netchine, I., Lombardi, P., Soellner, L., Begemann, M., Prawitt, D., Maher, E. R., Mannens, M., Riccio, A. ,. Eggermann, T. (2016). EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome. EUROPEAN JOURNAL OF HUMAN GENETICS, 24 (10), pp.1377-1387. https://doi.org/10.1038/ejhg.2016.45Test.; http://hdl.handle.net/11343/304144Test
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6دورية أكاديمية
المؤلفون: Wakeling, EL, Brioude, F, Lokulo-Sodipe, O, O'Connell, SM, Salem, J, Bliek, J, Canton, APM, Chrzanowska, KH, Davies, JH, Dias, RP, Dubern, B, Elbracht, M, Giabicani, E, Grimberg, A, Gronskov, K, Hokken-Koelega, ACS, Jorge, AA, Kagami, M, Linglart, A, Maghnie, M, Mohnike, K, Monk, D, Moore, GE, Murray, PG, Ogata, T, Petit, IO, Russo, S, Said, E, Toumba, M, Tumer, Z, Binder, G, Eggermann, T, Harbison, MD, Temple, IK, Mackay, DJG, Netchine, I
المصدر: Nature Reviews Endocrinology , 13 (2) pp. 105-124. (2016)
مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Endocrinology & Metabolism, For-gestational-age, Children Born Small, Growth-hormone Treatment, Maternal Uniparental Disomy, Prader-willi-syndrome, 11p15-associated Imprinting Disorders, Methylation Analysis Reveals, Beckwith-wiedemann Syndromes, Randomized Controlled-trial, Clinical Scoring System
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1531436/1/Moore-G_Diagnosis%20and%20management%20Silver%20Russell%20syn_.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1531436Test/
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7دورية أكاديمية
المؤلفون: Mackay DJG, Bliek J, Lombardi MP, Russo S, Calzari L, Guzzetti S, Izzi C, Selicorni A, Melis D, Temple K, Maher E, Brioude F, Netchine I, Eggermann T
المساهمون: Mackay, Djg, Bliek, J, Lombardi, Mp, Russo, S, Calzari, L, Guzzetti, S, Izzi, C, Selicorni, A, Melis, D, Temple, K, Maher, E, Brioude, F, Netchine, I, Eggermann, T
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000460168100001; journal:GENETICAL RESEARCH; https://hdl.handle.net/11379/582616Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85062416209
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8دورية أكاديمية
المؤلفون: Boonen, SE, Mackay, DJG, Hahnemann, JMD, Docherty, L, Gronskov, K, Lehmann, A, Larsen, LG, Haemers, AP, Kockaerts, Y, Dooms, L, Dung, CV, Ngoc, CTB, Phuong, BN, Kordonouri, O, Sundberg, F, Dayanikli, P, Puthi, V, Acerini, C, Massoud, AF, Tumer, Z, Temple, IK
العلاقة: pii: dc12-0700; Boonen, S. E., Mackay, D. J. G., Hahnemann, J. M. D., Docherty, L., Gronskov, K., Lehmann, A., Larsen, L. G., Haemers, A. P., Kockaerts, Y., Dooms, L., Dung, C. V., Ngoc, C. T. B., Phuong, B. N., Kordonouri, O., Sundberg, F., Dayanikli, P., Puthi, V., Acerini, C., Massoud, A. F. ,. Temple, I. K. (2013). Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci A detailed follow-up. DIABETES CARE, 36 (3), pp.505-512. https://doi.org/10.2337/dc12-0700Test.; http://hdl.handle.net/11343/265412Test
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9دورية أكاديمية
المؤلفون: Kabwama, S, Docherty, LE, Cook, E, Harrison, L, Ellard, S, Ennis, S, Shield, JPH, Mackay, DJG, Temple, IK
مصطلحات موضوعية: British Association of General Paediatrics/British Society for Paediatric Endocrinology & Diabetes
وصف الملف: text/html
العلاقة: http://adc.bmj.com/cgi/content/short/97/Suppl_1/A102-bTest; http://dx.doi.org/10.1136/archdischild-2012-301885.241Test
الإتاحة: https://doi.org/10.1136/archdischild-2012-301885.241Test
http://adc.bmj.com/cgi/content/short/97/Suppl_1/A102-bTest -
10
المؤلفون: Oluwakemi Lokulo-Sodipe, Diana S Brightman, Mackay Djg, Searle B, I.K. Temple, Andrew Dauber, Justin H Davies
المصدر: Yearbook of Paediatric Endocrinology.
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, business.industry, Internal medicine, Medicine, In patient, Temple Syndrome, Short term growth, Growth hormone, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::248f52e55ec852e16de3992ad0bf8d55Test
https://doi.org/10.1530/ey.16.4.1Test
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