المؤلفون: Marques, P, Caimari, F, Hernández-Ramírez, LC, Collier, D, Iacovazzo, D, Ronaldson, A, Magid, K, Lim, CT, Stals, K, Ellard, S, Grossman, AB, Korbonits, M, Abraham, P, Aflorei, E, Agha, A, Ahlquist, J, Akker, SA, Alexandraki, K, Alföldi, S, Anselmo, J, Arlt, W, Atkinson, B, Aulinas-Masó, A, Aylwin, SJ, Baborie, A, Backeljauw, PF, Badiu, C, Baldeweg, S, Ball, S, Bano, G, Barkan, A, Barton, J, Barwell, J, Bates, P, Bernal-González, C, Besser, M, Bevan, JS, Bickerton, A, Blair, J, Bolanowski, M, Bouloux, P, Bradley, L, Bradley, K, Brain, C, Brooke, A, Brown, R, Buchfelder, M, Burren, C, Cakir, M, Canham, N, Capraro, J, Carroll, P, Carter, P, Carty, D, Cavlan, D, Chahal, HS, Cheetham, T, Chentli, F, Choong, C, Christ-Crain, M, Chung, T-T, Clayton, P, Clayton, RN, Cohen, M, Courtney, H, Cove, D, Crowne, E, Cuthbertson, D, Dal, J, Dalantaeva, N, Damjanovic, S, Daousi, C, Darzy, K, Dattani, M, Davies, M, Davies, J, Davis, J, de Castro, M, de Marinis, L, Deal, C, Dénes, J, Dimitri, P, Dorward, N, Dow, G, Drake, W, Druce, M, Drummond, J, Dutta, P, Dzeranova, L, Edén-Engström, B, Eeles, R, Elfving, M, Ellis, K, Elston, M, Emmerson, L, Ezzat, S, Fersht, N, Fica, S, Fischli, S, Fleseriu, M, Forsythe, E, Foulkes, W, Freda, P, Friedman, T, Gadelha, M, Gainsborough, M, Gallacher, S, Gallego, P, Gan, H-W, Georgescu, C, Gevers, E, Gilkes, C, Glynn, N, Goldman, JE, Goldstone, AP, Góth, M, Green, A, Greenhalgh, L, Grieve, J, Griz, L, Guitelman, M, Gürlek, A, Gurnell, M, Hamblin, PS, Hana, V, Harding, P, Hay, E, Hilton, DA, Ho, W, Hong, G, Horváth, K, Howell, S, Howlett, TA, Höybye, C, Hunter, S, Idampitiya, C, Igaz, P, Imran, A, Inder, WJ, Iwata, T, Izatt, L, Jagadeesh, S, Johnston, C, Jose, B, Kaltsas, G, Kaplan, F, Karavitaki, N, Kastelan, D, Katz, M, Kearney, T, Kershaw, M, Khoo, B, Kiraly-Borri, C, Knispelis, R, Kovács, GL, Kumar, A, Kumar, AV, Kun, IZ, Kyriaku, A, Lambrescu, I, Lampe, AK, Laws, ER, Lebek-Szatanska, A, Lechan, RM, Leese, G, Levy, A, Levy, MJ, Lewandowski, K, Lin, E, Lo, J, Lyons, C, Maartens, N, Maghnie, M, Makaya, T, Marcus, H, Niedziela, M, Martin, N, Matsuno, A, McGowan, B, McQuaid, SE, Medic-Stojanoska, M, Mendoza, N, Mercado-Atri, M, Mettananda, S, Mezősi, E, Miljic, D, Miller, KK, Modenesi, S, Molitch, ME, Monson, J, Morris, DG, Morrison, PJ, Mosterman, B, Munir, A, Murray, RD, Musat, M, Musolino, N, Nachtigall, L, Nagi, D, Nair, R, Nelson, R, Newell-Price, J, Nikookam, K, Ogilivie, A, Orme, SM, O´Weickert, M, Pal, A, Pascanu, I, Patócs, A, Patterson, C, Pearce, SH, Giraldi, FP, Penney, L, Perez-Rivas, LG, Pfeifer, M, Pirie, F, Poplawski, N, Popovic, V, Powell, M, Pullan, P, Quinton, R, Radian, S, Randeva, H, Reddy, N, Rees, A, Renals, V, de Oliveira, AR, Richardson, T, Rodd, C, Ross, RJM, Roncaroli, F, Ryan, F, Salvatori, R, Schöfl, C, Shears, D, Shotliff, K, Skelly, R, Snape, K, Soares, BS, Somasundaram, N, Spada, A, Sperber, J, Spoudeas, H, Stelmachowska-Banas, M, Stewart, S, Storr, HL, Strasburger, C, Street, ME, Suter-Widmer, I, Suthers, G, Swords, F, Syro, LV, Swantje, B, Sze, C, Taylor, J, Thakker, RV, Tham, E, Thompson, C, Thorner, MO, Tóth, M, Trainer, PJ, Tsagarakis, S, Twine, G, Tzanela, M, Vadasz, J, Vaidya, B, Vaks, V, Vance, ML, Verkauskiene, R, Von Esch, H, Wass, JA, Waterhouse, M, Webb, S, Weber, A, Wernig, F, Widell, H, Yamada, S, Yap, P, Yarman, S, Yeoh, P, Yoshimoto, K, Yuen, K, Zammitt, NN

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::f1f85350074e75207a795cc47210556b

المؤلفون: Hernandez-Ramirez, L.C., Gabrovska, P., Denes, J., Stals, K., Trivellin, G., Tilley, D., Ferrau, F., Evanson, J., Ellard, S., Grossman, A.B., Roncaroli, F., Gadelha, M.R., Korbonits, M., Agha, A., Akker, S.A., Aflorei, E.D., Alföldi, S., Arlt, W., Atkinson, B., Aulinas-Masó, A., Aylwin, S.J., Backeljauw, P.F., Badiu, C., Baldeweg, S., Bano, G., Barkan, A., Barwell, J., Bernal-González, C., Besser, G., Bevan, J.S., Blair, J., Bouloux, P., Bradley, L., Buchfelder, M., Cakir, M., Canham N, ., Carroll, P., Chahal, H.S., Cheetham, T., Chentli, F., Clayton, R.N., Cohen, M., Cole, T., Courtney, H., Crowne, E., Cuthbertson, D., Dal J, ., Dalantaeva, N., Daousi, C., Darzy, K., Dattani, M., Davies, J.H., Davis, J., De Castro, M., De Marinis, L., Drake, W., Dutta, P., Dzeranova, L., Edén-Engström, B., Eeles, R., Elfving, M., Elston, M., Emmerson, L., Fersht, N., Fica, S., Fischli, S., Flanagan, D., Fleseriu, M., Freda, P.U., Friedman, T., Frohman, L.A., Gallego, P., Gevers, E., Gláz, E., Goldman, J.A., Goldstone, A.P., Goth, M., Greenhalgh, L., Grieve, J., Guitelman, M., Gürlek, A., Gurnell, M., Horvath, K., Howlett, T.A., Höybye, C., Hunter S, ., Iacovazzo D, ., Igaz, P., Inder, W.J., Iwata, T., Izatt, L., Jagadeesh, S., Kaltsas, G., Kaplan F, ., Karavitaki, N., Kastelan, D., Katz, M., Kearney, T., Khoo, B., Kiraly-Borri, C., Knispelis, R., Kovács, G.L., Kumar, A.V., Laws, E.R., Lechan, R.M., Levy, J., Lewandowski, K., Lo, J., Maartens, N., Matsuno, A., Mcgowan, B., Mcquaid, S.E., Medic-Stojanoska, M., Mercado-Atri, M., Mezősi, E., Miljic, D., Miller, K.K., Modenesi, S., Molitch, M.E., Monson, J., Morris, D.G., Morrison, P.J., Munir, A., Murray, R.D., Musat, M., Musolino, N., Nachtigall, L., Newell-Price, J., Ogilvie, A., Orme, S.M., Paşcanu, I., Patócs, A., Patterson, C., Pearce, S.H., Pecori Giraldi, F., Pfeifer, M., Popovic, V., Poplawski, N., Powell, M., Pullan, P., Quinton, R., Radian, S., Randeva, H., Ribeiro-Oliveira, A., Rodd, C., Ryan, F., Salvatori, R., Schöfl, C., Shears, D., Shotliff, K., Soares, B.S., Spada, A., Sperber, J., Spoudeas, H.A., Stewart, S., Storr, H., Strasburger, C., Street, M.E., Swords, F., Thakker, R.V., Tham, E., Thompson, C., Thorner, M.O., Tóth, M., Trainer, P.J., Tsagarakis, S., Tzanela, M., Vadász, J., Vaks, V., Verkauskiene, R., Wass, J.A., Webb, S.M., Weber, A., Yamada, S., Yarman, S., Yeoh, P., Yoshimoto, K., Zammitt, N.N.

المساهمون: İç hastalıkları

المصدر: Hernández-Ramírez, L C, Gabrovska, P, Dénes, J, Stals, K, Trivellin, G, Tilley, D, Ferrau, F, Evanson, J, Ellard, S, Grossman, A B, Roncaroli, F, Gadelha, M R, Korbonits, M & International FIPA Consortium 2015, ' Landscape of Familial Isolated and Young-Onset Pituitary Adenomas : Prospective Diagnosis in AIP Mutation Carriers ', J.Clin.Endocrinol.Metab., vol. 100, no. 9, pp. E1242-1254 . https://doi.org/10.1210/jc.2015-1869, https://doi.org/10.1210/jc.2015-1869
The Journal of Clinical Endocrinology and Metabolism

مصطلحات موضوعية: Adenoma, Adult, Male, Adolescent, Aged, Aged, 80 and over, Child, Child, Preschool, Female, Genetic Testing, Germ-Line Mutation, Growth Hormone-Secreting Pituitary Adenoma, Humans, Intracellular Signaling Peptides and Proteins, Longitudinal Studies, Middle Aged, Mutation, Pituitary Neoplasms, Prospective Studies, Young Adult, Endocrinology, Diabetes and Metabolism, Biochemistry, Endocrinology, Clinical Biochemistry, Biochemistry (medical), Observational Study, Settore MED/13 - Endocrinologia, Journal Article, 80 and over, Preschool, JCEM Online: Advances in Genetics, Research Support, Non-U.S. Gov't

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http://hdl.handle.net/2434/827436

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عنوان ترانسليتريتد: Alopecia androgénica prematura en un varón con déficit de 21-hidroxilasa no clásico. Nueva mutación grave (Y336X) del gen CYP21A2 en 2 hermanos afectados.

المؤلفون: Bernal González C; Servicio de Endocrinología y Laboratorio de Hormonas, Hospital Universitario 12 de Octubre, Madrid, España., Fernández Salas C, Martínez S, Ezquieta Zubicaray B

المصدر: Medicina clinica [Med Clin (Barc)] 2006 Oct 28; Vol. 127 (16), pp. 617-21.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier España Country of Publication: Spain NLM ID: 0376377 Publication Model: Print Cited Medium: Print ISSN: 0025-7753 (Print) Linking ISSN: 00257753 NLM ISO Abbreviation: Med Clin (Barc) Subsets: MEDLINE

مواضيع طبية MeSH: Adrenal Hyperplasia, Congenital/*genetics , Alopecia/*genetics , Steroid 21-Hydroxylase/*genetics, Adult ; Female ; Humans ; Male ; Mutation ; Pedigree ; Siblings