المؤلفون: Audi, Luciana Cristina da Costa

Thesis Advisors: Pietri, Emerson de

مصطلحات موضوعية: Aprendizagem, Collaborative teaching, Desenvolvimento, Development, Ensino colaborativo, Formação de professores, Learning, PIBID, Teacher education

وصف الملف: application/pdf

الاتاحة: http://www.teses.usp.br/teses/disponiveis/48/48134/tde-15042019-165510/

المؤلفون: Vargas, D.M., Audí, L., Carrascosa, A.

المصدر: Revista da Associação Médica Brasileira. December 1997 43(4)

مصطلحات موضوعية: Marcadores ósseos, Pró-colágeno, Metabolismo ósseo, Bone markers, Procollagen, Bone metabolism

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0104-42301997000400016

المؤلفون: Lucas-Herald, AK, Bryce, J, Kyriakou, A, Ljubicic, ML, Arlt, W, Audí, L, Balsamo, A, Baronio, F, Bertelloni, S, Bettendorf, M, Brooke, A, Claahsen-van der Grinten, HL, Davies, J, Hermann, G, de Vries, L, Hughes, IA, Tadokoro-Cuccaro, R, Darendeliler, F, Poyrazoglu, S, Ellaithi, M, Evliyaoglu, O, Fica, S, Stejereanu, L, Gawlik, A, Globa, E, Zelinska, N, Guran, T, Güven, A, Hannema, S, Hiort, O, Holterhus, P-M, Iotova, V, Mladenov, V, Jain, V, Sharma, R, Jennane, F, Johnston, C, Guerra-Junior, G, Konrad, D, Gaisl, O, Krone, NP, Krone, R, Lachlan, K, Li, D, Lichiardopol, C, Lisá, L, Markosyan, RL, Mazen, I, Mohnike, K, Niedziela, M, Nordenstrom, A, Rey, RA, Skae, M, Tack, LJW, Tomlinson, JW, Weintrob, N, Cools, M, Ahmed, SF

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/174582/1/%5B1479683X%20-%20European%20Journal%20of%20Endocrinology%5D%20Gonadectomy%20in%20conditions%20affecting%20sex%20development_%20a%20registry-based%20cohort%20study.pdf; Lucas-Herald, AK, Bryce, J, Kyriakou, A et al. (55 more authors) (2021) Gonadectomy in conditions affecting sex development: a registry-based cohort study. European Journal of Endocrinology, 184 (6). pp. 791-801. ISSN 0804-4643

الاتاحة: https://eprints.whiterose.ac.uk/174582/
https://eprints.whiterose.ac.uk/174582/1/%5B1479683X%20-%20European%20Journal%20of%20Endocrinology%5D%20Gonadectomy%20in%20conditions%20affecting%20sex%20development_%20a%20registry-based%20cohort%20study.pdf

المؤلفون: Lucas-Herald, A.K., Bryce, J., Kyriakou, A., Ljubicic, M.L., Arlt, W., Audi, L., Poyrazoglu, S.

وصف الملف: application/pdf

Relation: European Journal of Endocrinology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1530/EJE-20-1058; https://hdl.handle.net/20.500.12831/7012; 184; 791; 801; 2-s2.0-85105443791; PubMed: 33780351

الاتاحة: https://doi.org/10.1530/EJE-20-1058
https://hdl.handle.net/20.500.12831/7012

المؤلفون: Hiort O., Cools M., Springer A., McElreavey K., Greenfield A., Wudy S. A., Kulle A., Ahmed S. F., Dessens A., Balsamo A., Maghnie M., Bonomi M., Dattani M., Persani L., Audi L.

المساهمون: O. Hiort, M. Cool, A. Springer, K. Mcelreavey, A. Greenfield, S.A. Wudy, A. Kulle, S.F. Ahmed, A. Dessen, A. Balsamo, M. Maghnie, M. Bonomi, M. Dattani, L. Persani, L. Audi

مصطلحات موضوعية: Settore MED/13 - Endocrinologia

Relation: info:eu-repo/semantics/altIdentifier/pmid/31406344; info:eu-repo/semantics/altIdentifier/wos/WOS:000485654300011; volume:15; issue:10; firstpage:615; lastpage:622; numberofpages:8; journal:NATURE REVIEWS. ENDOCRINOLOGY; http://hdl.handle.net/2434/706232; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85071276722

الاتاحة: http://hdl.handle.net/2434/706232
https://doi.org/10.1038/s41574-019-0238-y

المؤلفون: Audí, L, Ahmed, S F, Krone, N, Cools, Martine, McElreavey, K, Holterhus, P M, Greenfield, A, Bashamboo, A, Hiort, O, Wudy, S A, McGowan, R

المصدر: EUROPEAN JOURNAL OF ENDOCRINOLOGY ; ISSN: 0804-4643 ; ISSN: 1479-683X

مصطلحات موضوعية: Medicine and Health Sciences, Endocrinology, Diabetes and Metabolism, General Medicine, GONADAL-DYSGENESIS, MEDICAL GENETICS, AMERICAN-COLLEGE, XY DISORDERS, MUTATIONS, IDENTIFICATION, PREVALENCE, ANOMALIES, EXOME, CGH

Time: 46

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/8695958; http://hdl.handle.net/1854/LU-8695958; http://dx.doi.org/10.1530/eje-18-0256; https://biblio.ugent.be/publication/8695958/file/8695960

الاتاحة: https://biblio.ugent.be/publication/8695958
http://hdl.handle.net/1854/LU-8695958
https://doi.org/10.1530/eje-18-0256
https://biblio.ugent.be/publication/8695958/file/8695960

المؤلفون: Martinez de LaPiscina, I, de Mingo, C, Riedl, S, Rodriguez, A, Pandey, AV, Fernandez-Cancio, M, Camats, N, Sinclair, A, Castano, L, Audi, L, Flueck, CE

Relation: Martinez de LaPiscina, I., de Mingo, C., Riedl, S., Rodriguez, A., Pandey, A. V., Fernandez-Cancio, M., Camats, N., Sinclair, A., Castano, L., Audi, L. & Flueck, C. E. (2018). GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes. FRONTIERS IN ENDOCRINOLOGY, 9 (APR), https://doi.org/10.3389/fendo.2018.00142.; http://hdl.handle.net/11343/254851

الاتاحة: http://hdl.handle.net/11343/254851

المؤلفون: Hornig, N C, Ukat, M, Schweikert, H U, Hiort, O, Werner, R, Drop, Sten, Cools, M, Hughes, IA, Audi, L, Ahmed, SF, Demiri, J, Rodens, P, Worch, L, Wehner, G, Kulle, A E, Dunstheimer, D, Muller-Rossberg, E, Reinehr, T, Hadidi, A T, Eckstein, A K, van der Horst, C, Seif, C, Siebert, R, Ammerpohl, O, Holterhus, PM

المصدر: Hornig , N C , Ukat , M , Schweikert , H U , Hiort , O , Werner , R , Drop , S , Cools , M , Hughes , IA , Audi , L , Ahmed , SF , Demiri , J , Rodens , P , Worch , L , Wehner , G , Kulle , A E , Dunstheimer , D , Muller-Rossberg , E , Reinehr , T , Hadidi , A T , Eckstein , A K , van der Horst , C , Seif , C , Siebert , R , ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM015401, name=EMC MM-01-54-01

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/4bca26be-d9e3-44f9-891e-2652b176130d
https://doi.org/10.1210/jc.2016-1990
https://pure.eur.nl/ws/files/47745699/REPUB_94260.pdf

المؤلفون: Hornig, N.C., DE BEAUFORT, Carine, Denzer, F., Cools, M., Wabitsch, Ukat, M., Kulle, A.E., Schweikert, H.U., Werner, R., Hiort, O., Audi, L., Siebert, R., Ammerpohl, O., Holterhus, P.M.

المصدر: PLoS ONE, 11 (4) (2016-04-25)

مصطلحات موضوعية: germline mutation, 5 UTR, androgen receptor, insensivity, uORF translation, Human health sciences, Sciences de la santé humaine

Relation: http://journals.plos.org/plosone/article?id=10.1371%2Fjournal.pone.0154158; urn:issn:1932-6203; https://orbilu.uni.lu/handle/10993/27172; info:hdl:10993/27172; https://orbilu.uni.lu/bitstream/10993/27172/1/hornig%20et%20al.%202016%20recurrent%20germline%20mutation.PDF; info:pmid:27110943; wos:000374970600040

الاتاحة: https://orbilu.uni.lu/handle/10993/27172
https://orbilu.uni.lu/bitstream/10993/27172/1/hornig%20et%20al.%202016%20recurrent%20germline%20mutation.PDF
https://doi.org/10.1371/journal.pone.0154158

المؤلفون: Hornig, N.C., Ukat, M., Schweikert, H.U., Hiort, O., Werner, R., Drop, S.L.S., Cools, M., Hughes, I.A., Audi, L., Ahmed, S.F., Demiri, J., Rodens, P., Worch, L., Wehner, G., Kulle, A.E., Dunstheimer, D., Müller-Roßberg, E., Reinehr, T., Hadidi, A.T., Eckstein, A.K., Van Der Horst, C., Seif, C., Siebert, R., Ammerpohl, O., Holterhus, P.-M.

وصف الملف: text

Relation: http://eprints.gla.ac.uk/123943/1/123943.pdf; Hornig, N.C. et al. (2016) Identification of an AR-mutation negative class of androgen insensitivity by determining endogenous AR-activity. Journal of Clinical Endocrinology and Metabolism , 101(11), pp. 4468-4477. (doi:10.1210/jc.2016-1990 ) (PMID:27583472) (PMCID:PMC5095254)

الاتاحة: http://eprints.gla.ac.uk/123943/
http://eprints.gla.ac.uk/123943/1/123943.pdf

المؤلفون: Tiosano, D, Audi, L, Climer, S, Zhang, W, Templeton, AR, Fernández-Cancio, M, Gershoni-Baruch, R, Sánchez-Muro, JM, El Kholy, M, Hochberg, Z

مصطلحات موضوعية: adaptation, epistasis, linkage disequilibrium, network analysis, skin color, vitamin D, Biological, Alleles, Altitude, Computational Biology, Genetic, Gene Frequency, Gene Regulatory Networks, Gene-Environment Interaction, Genetic Linkage, Genome, Human, Genomics, Genotype, Humans, Polymorphism, Single Nucleotide, Receptors, Calcitriol, Skin Pigmentation

وصف الملف: 1251-1266

Relation: Oxford University Press (OUP); G3: Genes, Genomes, Genetics; 26921301 (pubmed); http://hdl.handle.net/20.500.12613/5584

الاتاحة: https://hdl.handle.net/20.500.12613/5584

المؤلفون: Audi, L, Fernández-Cancio, M, Carrascosa, A, Andaluz, P, Torán, N, Piró, C, Vilaró, E, Vicens-Calvet, E, Gussinyé, M, Albisu, M A, Yeste, D, Clemente, M, Hernández de la Calle, I, Campo, M Del, Vendrell, T, Blanco, A, Martínez-Mora, J, Granada, M L, Salinas, I, Forn, J, Calaf, J, Angerri, O, Martínez-Sopena, M J, Valle, J Del, García, E, Gracia-Bouthelier, R, Lapunzina, P, Mayayo, E, Labarta, J I, Lledó, G, Sánchez Del Pozo, J, Arroyo, J, Pérez-Aytes, A, Beneyto, M, Segura, A, Borrás, V, Gabau, E, Caimarí, M, Rodríguez, A, Martínez-Aedo, M J, Carrera, M, Castaño, L, Andrade, M, Bermúdez de la Vega, J A

المساهمون: Grupo de Apoyo al Síndrome de Insensibilidad a los Andrógenos (GrApSIA), Audi,L, Fernández-Cancio,M, Carrascosa,A, Andaluz,P, Vilaró,E, Vicens-Calvet,E, Gussinyé,M, Albusi,MA, Yeste,D, Clemente,M Pediatric Endocrinology Research Unit, Research Institute, Hospital Vall d’Hebron, Autonomous University, CIBERER (Centre for Biomedical Research Network on Rare Diseases), Instituto de Salud Carlos III, Barcelona, Spain. Torán,N, Pirón,C, Hernandez de la Calle,I, Campo,M del, Vendrell,T Departments of Pathology, Pediatric Surgery, Gynecology, and Genetics, Hospital Vall d’Hebron, Barcelona, Spain. Blanco,A, Martínez-Mora,J, Granada,ML, Salinas,I Departments of Pediatric Surgery, Biochemistry, and Endocrinology, Hospital Germans Trias-Pujol, Badalona, Spain. Forn,J, Calaf,J Departments of Pediatrics and Gynecology, Hospital Santa Creu i Sant Pau, Barcelona, Spain. Angerri,O Department of Urology, Fundació Puigvert, Barcelona, Spain. Martínez-Sopena,MJ Department of Pediatrics, Hospital Clínico, Valladolid, Spain. Valle,J del, García,E Department of Pediatric Endocrinology, Hospital Virgen del Rocío, Sevilla, Spain. Gracia-Bouthelier,R, Lapunzina,P Departments of Pediatric Endocrinology and Genetics, Hospital La Paz, Madrid, Spain. Mayayo,E, Labarta,JI Department of Pediatric Endocrinology, Hospital Infantil Miguel Servet, Zaragoza, Spain. Lledó,G, Sánchez del Pozo,J Department of Pediatric Endocrinology, Hospital 12 de Octubre, Madrid, Spain. Arroyo,J Department of Pediatrics, Complejo Hospitalario de Cáceres, Cáceres, Spain. Pérez-Aytes,A Department of Pediatrics, Hospital Infantil La Fe, Valencia, Spain. Beneyto,M Department of Genetics, Hospital La Fe, Valencia, Spain. Segura,A Department of Urology, Hospital General Universitario de Alicante, Alicante, Spain. Borrás,V Department of Pediatrics, Hospital de Granollers, Granollers, Spain. Gabau,E Department of Genetics, Corporació Hospitalaria Parc Taulí, Sabadell, Spain. Caimarí,M Department of Pediatrics, Hospital Son Dureta, Palma de Mallorca, Spain. Rodríguez,A Department of Pediatrics, Hospital Txagorritxu, Vitoria, Spain. Martínez-Aedo,MJ Department of Pediatric Endocrinology, Hospital Carlos Haya, Málaga, Spain. Carrera,M Centro de Patología Celular CPC, Barcelona, Spain. Castaño,L Research Institute, CIBERER, Instituto de Salud Carlos III, Hospital de Cruces, Bilbao, Spain. Andrade,M Department of Biochemistry, Hospital Xeral CIES, Vigo, Spain. Bermúdez de la Vega,JA Department of Pediatric Endocrinology, Hospital Virgen de la Macarena,Sevilla, Spain., This work was supported by grants from Instituto de Salud Carlos III, Madrid, Spain PI06/0903 and CIBERER (Center for Biomedical Research on Rare Diseases) and from AGAUR (University and Research Management and Evaluation Agency), Barcelona, Spain (SGR02 00042 and SGR05 00908).

مصطلحات موضوعية: 3-oxo-5-alfa-esteroide 4-deshidrogenasa, Exonas, Disgenesia gonadal 46XY, Heterocigoto, Intrones, Mutación, Receptores de andrógenos, Reacción en cadena de la polimerasa por transcriptasa inversa, Medical Subject Headings::Named Groups::Persons::Age Groups::Adolescent, Medical Subject Headings::Named Groups::Persons::Age Groups::Child, Medical Subject Headings::Named Groups::Persons::Age Groups::Child::Child, Preschool, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Gene Components::Exons, Medical Subject Headings::Check Tags::Female, Medical Subject Headings::Anatomy::Cells::Connective Tissue Cells::Fibroblasts, Medical Subject Headings::Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Urogenital Abnormalities::Disorders of Sex Development::46, XY Disorders of Sex Development::Gonadal Dysgenesis, 46,XY, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype::Heterozygote, Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans, Medical Subject Headings::Named Groups::Persons::Age Groups::Infant, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Gene Components::Introns, Medical Subject Headings::Check Tags::Male, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Phenotype, Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Transcription Factors::Receptors

وصف الملف: application/pdf

Relation: http://jcem.endojournals.org/content/95/4/1876.abstract; Audi L, Fernández-Cancio M, Carrascosa A, Andaluz P, Torán N, Piró C, et al. Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development. J. Clin. Endocrinol. Metab. 2010; 95(4):1876-88; http://hdl.handle.net/10668/1323

الاتاحة: http://hdl.handle.net/10668/1323
https://doi.org/10.1210/jc.2009-2146

المؤلفون: Cox, K, Bryce, J, Jiang, J, Rodie, M, Sinnott, R, Alkhawari, M, Arlt, W, Audi, L, Balsamo, A, Bertelloni, S, Cools, M, Darendeliler, F, Drop, S, Ellaithi, M, Guran, T, Hiort, O, Holterhus, P-M, Hughes, I, Krone, N, Lisa, L, Morel, Y, Soder, O, Wieacker, P, Ahmed, SF

Relation: pii: jc.2013-2918; Cox, K., Bryce, J., Jiang, J., Rodie, M., Sinnott, R., Alkhawari, M., Arlt, W., Audi, L., Balsamo, A., Bertelloni, S., Cools, M., Darendeliler, F., Drop, S., Ellaithi, M., Guran, T., Hiort, O., Holterhus, P. -M., Hughes, I., Krone, N. ,. Ahmed, S. F. (2014). Novel Associations in Disorders of Sex Development: Findings From the I-DSD Registry. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 99 (2), pp.E348-E355. https://doi.org/10.1210/jc.2013-2918.; http://hdl.handle.net/11343/33380

الاتاحة: http://hdl.handle.net/11343/33380

المؤلفون: Wit, J.M., Ranke, M.B., Albertsson-Wikland, K., Carrascosa, A., Rosenfeld, R.G., Van Buuren, S., Kristrom, B., Schoenau, E., Audi, L., Hokken-Koelega, A.C.S., Bang, P., Jung, H., Blum, W.F., Silverman, L.A., Cohen, P., Cianfarani, S., Deal, C., Clayton, P.E., de Graaff, L., Dahlgren, J., Kleintjens, J., Roelants, M.

المصدر: Hormone Research in Paediatrics ; volume 79, issue 5, page 257-270 ; ISSN 1663-2818 1663-2826

الاتاحة: http://dx.doi.org/10.1159/000351025
https://www.karger.com/Article/Pdf/351025

المؤلفون: Fernández-Cancio, M., Andaluz, P., Torán, N., Esteban, C., Carrascosa, A., Audí, L.

المصدر: Hormone Research in Paediatrics ; volume 67, issue 1, page 204-205 ; ISSN 1663-2818 1663-2826

الاتاحة: https://doi.org/10.1159/000097582
https://www.karger.com/Article/Pdf/97582

المؤلفون: Audí, L., Gilabert, A., Lloveras, G., Martí-Henneberg, C., Rodríguez-Hierro, F., Vilardell, E., Webb, S., Canela, J., Sedano, E., Vicens-Calvet, E.

المصدر: Hormone Research in Paediatrics ; volume 57, issue 3-4, page 113-119 ; ISSN 1663-2818 1663-2826

الاتاحة: https://doi.org/10.1159/000057961
https://www.karger.com/Article/Pdf/57961

المؤلفون: Audi, L, Mantzoros, C S, Vidal-Puig, A, Vargas, D, Gussinye, M, Carrascosa, A

المصدر: Molecular Psychiatry ; volume 3, issue 6, page 544-547 ; ISSN 1359-4184 1476-5578

الاتاحة: http://dx.doi.org/10.1038/sj.mp.4000418
https://www.nature.com/articles/4000418.pdf
https://www.nature.com/articles/4000418

المؤلفون: Kyprianou, N, Blackburn, J, Tan, R, Korbonits, M, Dattani, M, Dutta, P, Bhansali, A, Rai, A, Ribalta, T, Bulfamante, GP, Massa, V, Roncaroli, F, Evanson, J, Skoric, T, Kastelan, D, Gnanalingham, K, Mitchell, R, Bulfamante, AM, Argente, J, Goycoolea, A, Torales, J, Biagetti, B, Audi, L, Resmini, E, Webb, SM, Kapoor, RR, Chandler, C, Sampron, N, Preda, C, Ahmad, A, Gevers, EFP, Gaston-Massuet, C

Relation: Endocrine Abstracts; https://qmro.qmul.ac.uk/xmlui/handle/123456789/66580

الاتاحة: https://qmro.qmul.ac.uk/xmlui/handle/123456789/66580
https://doi.org/10.1530/endoabs.66.oc4.4

المؤلفون: Burgos, R., Simó, R., Audí, L., Mateo, C., Mesa, J., García-Ramírez, M., Carrascosa, A.

المصدر: Diabetologia ; volume 40, issue 9, page 1107-1109 ; ISSN 0012-186X 1432-0428

الاتاحة: http://dx.doi.org/10.1007/s001250050794
http://link.springer.com/content/pdf/10.1007/s001250050794.pdf
http://link.springer.com/article/10.1007/s001250050794/fulltext.html
http://link.springer.com/content/pdf/10.1007/s001250050794

المؤلفون: Ferrández, M A, Carrascosa, A, Audi, L, Ballabriga, A

المصدر: Pediatric Research ; volume 32, issue 5, page 571-573 ; ISSN 0031-3998 1530-0447

الاتاحة: http://dx.doi.org/10.1203/00006450-199211000-00017