المؤلفون: El Messallamy, Haitham S.

المصدر: Biomedicine and Chemical Sciences; Vol. 2 No. 2 (2023) ; 2790-296X ; 2957-5826 ; 10.48112/bcs.v2i2

مصطلحات موضوعية: APS-1, PGA-Type I, AIRE gene mutation, hypoparathyroidism, chronic mucocutaneous candidiasis

وصف الملف: application/pdf

العلاقة: https://journals.irapa.org/index.php/BCS/article/view/452/221Test; https://journals.irapa.org/index.php/BCS/article/view/452Test

الإتاحة: https://doi.org/10.48112/bcs.v2i2.452Test
https://doi.org/10.48112/bcs.v2i2Test
https://journals.irapa.org/index.php/BCS/article/view/452Test

المؤلفون: Jing Ruan, Xuan Wang, Xianyong Jiang, Miao Chen

المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-5 (2021)

مصطلحات موضوعية: Pure red cell aplasia, Large granular lymphocytic leukaemia, Autoimmune polyendocrine syndrome type 1, AIRE gene mutation, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8794Test

الوصول الحر: https://doaj.org/article/815b9f4610094afe856b7899401de23eTest

المؤلفون: Garelli S., Dalla Costa M., Sabbadin C., Barollo S., Rubin B., Scarpa R., Masiero S., Fierabracci A., Bizzarri C., Crino A., Cappa M., Valenzise M., Meloni A., De Bellis A. M., Giordano C., Presotto F., Perniola R., Capalbo D., Salerno M. C., Stigliano A., Radetti G., Camozzi V., Greggio N. A., Bogazzi F., Chiodini I., Pagotto U., Black S. K., Chen S., Rees Smith B., Furmaniak J., Weber G., Pigliaru F., De Sanctis L., Scaroni C., Betterle C.

المساهمون: Garelli S., Dalla Costa M., Sabbadin C., Barollo S., Rubin B., Scarpa R., Masiero S., Fierabracci A., Bizzarri C., Crino A., Cappa M., Valenzise M., Meloni A., De Bellis A.M., Giordano C., Presotto F., Perniola R., Capalbo D., Salerno M.C., Stigliano A., Radetti G., Camozzi V., Greggio N.A., Bogazzi F., Chiodini I., Pagotto U., Black S.K., Chen S., Rees Smith B., Furmaniak J., Weber G., Pigliaru F., De Sanctis L., Scaroni C., Betterle C.

مصطلحات موضوعية: Addison’s disease, AIRE gene mutation, Autoimmune Polyglandular Syndrome type 1 (APS-1), Autoimmune-poly-endocrine-candidiasis-ectodermal-dystrophy (APECED), Chronic hypoparathyroidism, Chronic mucocutaneous candidiasi, Interferon autoantibodies

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34003463; info:eu-repo/semantics/altIdentifier/wos/WOS:000651689200002; firstpage:1; lastpage:18; numberofpages:18; journal:JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION; http://hdl.handle.net/2318/1798169Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85106226694

الإتاحة: https://doi.org/10.1007/s40618-021-01585-6Test
http://hdl.handle.net/2318/1798169Test

المؤلفون: Handan Akil, Ayse Derya Bulus, Nesibe Andiran, Pascale Saugier Veber, Soner Keskin

المصدر: Journal of Clinical Ophthalmology and Research, Vol 4, Iss 1, Pp 37-39 (2016)

مصطلحات موضوعية: AIRE gene mutation, autoimmune polyendocrine syndrome, cataract, Ophthalmology, RE1-994

وصف الملف: electronic resource

العلاقة: http://www.jcor.in/article.asp?issn=2320-3897;year=2016;volume=4;issue=1;spage=37;epage=39;aulast=AkilTest; https://doaj.org/toc/2320-3897Test

الوصول الحر: https://doaj.org/article/094486f39f3a43e78a4cf8430be5d686Test

المؤلفون: F. Bogazzi, Giorgio Radetti, Mariacarolina Salerno, B. Rees Smith, Stefano Masiero, L. de Sanctis, F. Presotto, Carla Giordano, Roberto Perniola, Valentina Camozzi, C. Betterle, Carla Scaroni, Antonella Meloni, Sarah Black, Francesca Pigliaru, Chiara Sabbadin, Alessandra Fierabracci, Carla Bizzarri, Marco Cappa, Garvin Weber, Donatella Capalbo, Susi Barollo, Jadwiga Furmaniak, Mariella Valenzise, Antonio Stigliano, A. Crinò, N. A. Greggio, Riccardo Scarpa, Silvia Garelli, Uberto Pagotto, M. Dalla Costa, A. De Bellis, Iacopo Chiodini, Shu Chen, Beatrice Rubin

المساهمون: Garelli, S., Dalla Costa, M., Sabbadin, C., Barollo, S., Rubin, B., Scarpa, R., Masiero, S., Fierabracci, A., Bizzarri, C., Crino, A., Cappa, M., Valenzise, M., Meloni, A., De Bellis, A. M., Giordano, C., Presotto, F., Perniola, R., Capalbo, D., Salerno, M., Stigliano, A., Radetti, G., Camozzi, V., Greggio, N. A., Bogazzi, F., Chiodini, I., Pagotto, U., Black, S. K., Chen, S., Rees Smith, B., Furmaniak, J., Weber, G., Pigliaru, F., De Sanctis, L., Scaroni, C., Betterle, C., Garelli S., Dalla Costa M., Sabbadin C., Barollo S., Rubin B., Scarpa R., Masiero S., Fierabracci A., Bizzarri C., Crino A., Cappa M., Valenzise M., Meloni A., De Bellis A.M., Giordano C., Presotto F., Perniola R., Capalbo D., Salerno M.C., Stigliano A., Radetti G., Camozzi V., Greggio N.A., Bogazzi F., Chiodini I., Pagotto U., Black S.K., Chen S., Rees Smith B., Furmaniak J., Weber G., Pigliaru F., De Sanctis L., Scaroni C., Betterle C., Garelli, S, Dalla Costa, M, Sabbadin, C, Barollo, S, Rubin, B, Scarpa, R, Masiero, S, Fierabracci, A, Bizzarri, C, Crinò, A, Cappa, M, Valenzise, M, Meloni, A, De Bellis, A M, Giordano, C, Presotto, F, Perniola, R, Capalbo, D, Salerno, M C, Stigliano, A, Radetti, G, Camozzi, V, Greggio, N A, Bogazzi, F, Chiodini, I, Pagotto, U, Black, S K, Chen, S, Rees Smith, B, Furmaniak, J, Weber, G, Pigliaru, F, De Sanctis, L, Scaroni, C, Betterle, C

المصدر: Journal of Endocrinological Investigation

مصطلحات موضوعية: Male, Transcription Factor, Endocrinology, Diabetes and Metabolism, Autoimmune hepatitis, Gene mutation, Gastroenterology, Chronic mucocutaneous candidiasis, Endocrinology, Addison Disease, Autoimmune Polyglandular Syndrome type 1 (APS-1), Prevalence, Medicine, Polyendocrinopathies, Autoimmune, Candidiasis, Chronic Mucocutaneou, Addison’s disease, AIRE gene mutations, Autoimmune Polyglandular Syndrome type 1 (APS-1), Autoimmune-poly-endocrine-candidiasis-ectodermal-dystrophy (APECED), Chronic hypoparathyroidism, Chronic mucocutaneous candidiasis, Interferon autoantibodies, Candidiasis, Chronic Mucocutaneous, AIRE gene mutations, Addison’s disease, autoimmune polyglandular syndrome type 1 (APS-1), autoimmune-poly-endocrine-candidiasis-ectodermal-dystrophy (APECED), chronic hypoparathyroidism, chronic mucocutaneous candidiasis, interferon autoantibodies, Autoimmune regulator, Autoantibodie, Italy, Interferon autoantibodie, Addison's disease, Interferon Type I, Original Article, Female, Chronic hypoparathyroidism, Human, Adult, medicine.medical_specialty, Autoimmune Gastritis, Hypoparathyroidism, Internal medicine, Interferon autoantibodies, Humans, Mortality, Autoantibodies, Autoimmune-poly-endocrine-candidiasis-ectodermal-dystrophy (APECED), business.industry, Chronic mucocutaneous candidiasi, AIRE gene mutation, Autoantibody, medicine.disease, Autoimmune polyendocrine syndrome type 1, Mutation, business, Transcription Factors

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b5fd2c7ee684fd4d65c71851e2fdb32Test
http://hdl.handle.net/11568/1123121Test

المؤلفون: Miao Chen, Jing Ruan, Xianyong Jiang, Xuan Wang

المصدر: BMC Medical Genomics
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-5 (2021)

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, lcsh:Internal medicine, lcsh:QH426-470, Acquired Pure Red Cell Aplasia, Pure red cell aplasia, Case Report, Red-Cell Aplasia, Pure, urologic and male genital diseases, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Large granular lymphocytic leukaemia, lcsh:RC31-1245, Genetics (clinical), Bronchiectasis, business.industry, AIRE gene mutation, medicine.disease, Premature ovarian failure, Leukemia, Large Granular Lymphocytic, lcsh:Genetics, 030104 developmental biology, Autoimmune polyendocrine syndrome type 1, Hypoparathyroidism, 030220 oncology & carcinogenesis, Mutation, Immunology, Female, business, Glucocorticoid, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56fc4aab097a98459b690e42ed378cb5Test
http://europepmc.org/articles/PMC7814426Test

المؤلفون: GIORDANO, Carla, Modica, R, ALLOTTA, Maria Luisa, GUARNOTTA, Valentina, Cervato, S, Masiero, S, Giordano, R, Garelli, S, Betterle, C.

المساهمون: Giordano, C, Modica, R, Allotta, ML, Guarnotta, V, Cervato, S, Masiero, S, Giordano, R, Garelli, S, Betterle, C

مصطلحات موضوعية: AIRE gene mutation, Addison’s disease, APECED, autoimmune polyendocrine syndrome type 1, chronic mucocutaneous candidiasis, chronic hypoparathyroidism

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22024611; info:eu-repo/semantics/altIdentifier/wos/WOS:000308045400007; volume:35; issue:4; firstpage:384; lastpage:388; numberofpages:5; journal:JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION; http://hdl.handle.net/10447/60577Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84860259364

الإتاحة: https://doi.org/10.3275/7965Test
http://hdl.handle.net/10447/60577Test

المؤلفون: Ayşe Derya Buluş, Pascale Saugier Veber, Handan Akil, Soner Keskin, Nesibe Andiran

المصدر: Journal of Clinical Ophthalmology and Research, Vol 4, Iss 1, Pp 37-39 (2016)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, genetic structures, 03 medical and health sciences, Atrophy, autoimmune polyendocrine syndrome, lcsh:Ophthalmology, Retinitis pigmentosa, Medicine, Chronic mucocutaneous candidiasis, Adrenocortical Insufficiency, business.industry, AIRE gene mutation, medicine.disease, Autoimmune regulator, Dermatology, eye diseases, 030104 developmental biology, Autoimmune polyendocrine syndrome type 1, Hypoparathyroidism, cataract, lcsh:RE1-994, Autoimmune polyendocrine syndrome, Immunology, sense organs, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc0a953085b819c205ebd84ed3480b56Test
https://doi.org/10.4103/2320-3897.174414Test

المؤلفون: Giordano, C, Modica, R, Allotta, Ml, Guarnotta, V, Cervato, S, Masiero, S, Giordano, R, Garelli, Silvia, Betterle, Corrado

المساهمون: Giordano, C, Modica, R, Allotta, ML, Guarnotta, V, Cervato, S, Masiero, S, Giordano, R, Garelli, S, Betterle, C, Giordano, C., Modica, R., Allotta, M. L., Guarnotta, V., Cervato, S., Masiero, S., Giordano, R., Garelli, S., Betterle, C.

مصطلحات موضوعية: Adult, Male, Chronic mucocutaneous candidiasis, Mutation, Autoimmune polyendocrine syndrome type 1, Humans, Female, Addison's disease, Polyendocrinopathies, Autoimmune, Sicily, Chronic hypoparathyroidism, AIRE gene mutation, Addison’s disease, APECED, autoimmune polyendocrine syndrome type 1, chronic mucocutaneous candidiasis, chronic hypoparathyroidism, APECED, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::9781ee3cf1ef05c55ad05a5d7ba715e2Test
http://hdl.handle.net/10447/60577Test

المصدر: Biomedicine and Chemical Sciences; Vol. 2 No. 2 (2023); 90-94; 2790-296X; 2957-5826; 10.48112/bcs.v2i2

مصطلحات الفهرس: APS-1, PGA-Type I, AIRE gene mutation, hypoparathyroidism, chronic mucocutaneous candidiasis, info:eu-repo/semantics/article, info:eu-repo/semantics/publishedVersion, Peer-reviewed Article

URL: https://journals.irapa.org/index.php/BCS/article/view/452Test
https://journals.irapa.org/index.php/BCS/article/view/452/221Test
https://journals.irapa.org/index.php/BCS/article/view/452/221Test