يعرض 1 - 6 نتائج من 6 نتيجة بحث عن '"F. R. Faucz"', وقت الاستعلام: 0.42s تنقيح النتائج
  1. 1
    Academic Journal
    Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation

    المؤلفون: G. Trivellin, A. F. Daly, F. R. Faucz, B. Yuan, L. Rostomyan, D. O. Larco, M. H. Schernthaner Reiter, E. Szarek, L. F. Leal, J. H. Caberg, E. Castermans, C. Villa, A. Dimopoulos, P. Chittiboina, P. Xekouki, N. Shah, D. Metzger, P. A. Lysy, E. Ferrante, N. Strebkova, N. Mazerkina, M. Lodish, A. Horvath, R. B. de Alexandre, A. D. Manning, I. Levy, M. F. Keil, L. Sierra Mde, L. Palmeira, W. Coppieters, M. Georges, L. A. Naves, M. Jamar, V. Bours, T. J. Wu, C. S. Choong, J. Bertherat, P. Chanson, P. Kamenický, W. E. Farrell, A. Barlier, M. Quezado, I. Bjelobaba, S. S. Stojilkovic, J. Wess, S. Costanzi, P. Liu, J. R. Lupski, A. Beckers, C. A. Stratakis, ZATELLI, Maria Chiara

    المساهمون: G., Trivellin, A. F., Daly, F. R., Faucz, B., Yuan, L., Rostomyan, D. O., Larco, M. H., Schernthaner Reiter, E., Szarek, L. F., Leal, J. H., Caberg, E., Casterman, C., Villa, A., Dimopoulo, P., Chittiboina, P., Xekouki, N., Shah, D., Metzger, P. A., Lysy, E., Ferrante, N., Strebkova, N., Mazerkina, Zatelli, Maria Chiara, M., Lodish, A., Horvath, R. B., de Alexandre, A. D., Manning, I., Levy, M. F., Keil, L., Sierra Mde, L., Palmeira, W., Coppieter, M., George, L. A., Nave, M., Jamar, V., Bour, T. J., Wu, C. S., Choong, J., Bertherat, P., Chanson, P., Kamenický, W. E., Farrell, A., Barlier, M., Quezado, I., Bjelobaba, S. S., Stojilkovic, J., We, S., Costanzi, P., Liu, J. R., Lupski, A., Becker, C. A., Stratakis

    وصف الملف: STAMPA

    Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000346425800005; volume:371; issue:25; firstpage:2363; lastpage:2374; numberofpages:12; journal:NEW ENGLAND JOURNAL OF MEDICINE; http://hdl.handle.net/11392/2278014; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84919360657

    الاتاحة: http://hdl.handle.net/11392/2278014
    https://doi.org/10.1056/NEJMoa1408028

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  2. 2
    Academic Journal
    Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects

    المؤلفون: A. F. Daly, B. Yuan, F. Fina, J. Caberg, G. Trivellin, L. Rostomyan, W. W. De Herder, L. A. Naves, D. Metzger, T. Cuny, W. Rabl, N. Shah, M. Jaffrain Rea, M. Chiara Zatelli, F. R. Faucz, E. Castermans, I. Nanni Metellus, M. Lodish, A. Muhammad, L. Palmeira, I. Potorac, S. J. Neggers, M. Klein, A. Barlier, P. Liu, L. Ouafik, V. Bours, J. R. Lupski, C. A. Stratakis, A. Beckers, G. Mantovani

    المساهمون: A.F. Daly, B. Yuan, F. Fina, J. Caberg, G. Trivellin, L. Rostomyan, W.W. De Herder, L.A. Nave, D. Metzger, T. Cuny, W. Rabl, N. Shah, M. Jaffrain-Rea, M. Chiara Zatelli, F.R. Faucz, E. Casterman, I. Nanni-Metellu, M. Lodish, A. Muhammad, L. Palmeira, I. Potorac, G. Mantovani, S.J. Negger, M. Klein, A. Barlier, P. Liu, L. Ouafik, V. Bour, J.R. Lupski, C.A. Strataki, A. Beckers

    مصطلحات موضوعية: gigantism, molecular genetic, mosaicism, pituitary, X-LAG syndrome, endocrinology, diabetes and metabolism, oncology, cancer research, Settore MED/13 - Endocrinologia

    Relation: info:eu-repo/semantics/altIdentifier/pmid/26935837; info:eu-repo/semantics/altIdentifier/wos/WOS:000377691700005; volume:23; issue:4; firstpage:221; lastpage:233; numberofpages:13; journal:ENDOCRINE-RELATED CANCER; http://hdl.handle.net/2434/456343; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84976902872

    الاتاحة: http://hdl.handle.net/2434/456343
    https://doi.org/10.1530/ERC-16-0082

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  3. 3
    Academic Journal
    X-linked acrogigantism syndrome : clinical profile and therapeutic responses

    المؤلفون: A. Beckers, M. B. Lodish, G. Trivellin, L. Rostomyan, M. Lee, F. R. Faucz, B. Yuan, C. S. Choong, J. Caberg, L. A. Naves, T. D. Cheetham, J. Young, P. A. Lysy, P. Petrossians, A. Cotterill, N. S. Shah, D. Metzger, E. Castermans, M. R. Ambrosio, C. Villa, N. Strebkova, N. Mazerkina, S. Gaillard, G. B. Barra, L. A. Casulari, S. J. Neggers, R. Salvatori, M. Jaffrain Rea, M. Zacharin, B. L. Santamaria, S. Zacharieva, E. M. Lim, M. C. Zatelli, M. T. Collins, J. Bonneville, M. Quezado, P. Chittiboina, E. H. Oldfield, V. Bours, P. Liu, W. W. De Herder, N. Pellegata, J. R. Lupski, A. F. Daly, C. A. Stratakis, E. Verrua, G. Mantovani

    المساهمون: A. Becker, M.B. Lodish, G. Trivellin, L. Rostomyan, M. Lee, F.R. Faucz, B. Yuan, C.S. Choong, J. Caberg, E. Verrua, L.A. Nave, T.D. Cheetham, J. Young, P.A. Lysy, P. Petrossian, A. Cotterill, N.S. Shah, D. Metzger, E. Casterman, M.R. Ambrosio, C. Villa, N. Strebkova, N. Mazerkina, S. Gaillard, G.B. Barra, L.A. Casulari, S.J. Negger, R. Salvatori, M. Jaffrain Rea, M. Zacharin, B.L. Santamaria, S. Zacharieva, E.M. Lim, G. Mantovani, M.C. Zatelli, M.T. Collin, J. Bonneville, M. Quezado, P. Chittiboina, E.H. Oldfield, V. Bour, P. Liu, W.W. De Herder, N. Pellegata, J.R. Lupski, A.F. Daly, C.A. Stratakis

    مصطلحات موضوعية: Duplication, FIPA, Gigantism, GPR101, Pediatric, Pituitary adenoma, X chromosome, X-LAG syndrome, Acromegaly, Adenoma, Adolescent, Child, Preschool, Chromosomes, Human, Female, Infant, Male, Pituitary Neoplasm, Young Adult, Endocrinology, Diabetes and Metabolism, Oncology, Cancer Research, Settore MED/13 - Endocrinologia

    Relation: info:eu-repo/semantics/altIdentifier/pmid/25712922; info:eu-repo/semantics/altIdentifier/wos/WOS:000359003500018; volume:22; issue:3; firstpage:353; lastpage:367; numberofpages:15; journal:ENDOCRINE-RELATED CANCER; http://hdl.handle.net/2434/456353; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84935866275

    الاتاحة: http://hdl.handle.net/2434/456353
    https://doi.org/10.1530/ERC-15-0038

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  4. 4
    Academic Journal
    Cystic Fibrosis Gene Variability in Two Southern Brazilian Amerindian Populations: Analysis of the ΔF508 Mutation and the KM19 and XV2C Haplotypes

    المؤلفون: S. Raskin, M. L. Petzl-Erler, J. A. Phillips, L. Pereira-Ferrari, C. M. Probst, F. R. Faucz, V. Sotomaior, F. M. Salzano, L. Culpi

    المساهمون: S. Raskin, M. L. Petzl-Erler, J. A. Phillips, L. Pereira-Ferrari, C. M. Probst, F. R. Faucz, V. Sotomaior, F. M. Salzano, L. Culpi

    المصدر: https://doi.org/10.1353/hub.2007.0028.

    جغرافية الموضوع: world

    وصف الملف: text/HTML

    الاتاحة: https://doi.org/10.1353/hub.2007.0028

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  5. 5
    Polymorphism of LMP2, TAP1, LMP7 and TAP2 in Brazilian Amerindians and Caucasoids: implications for the evolution of allelic and haplotypic diversity

    المؤلفون: F R, Faucz, C M, Probst, M L, Petzl-Erler

    المصدر: European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics. 27(1)

    مصطلحات موضوعية: Proteasome Endopeptidase Complex, Polymorphism, Genetic, Genotype, Genetic Variation, Proteins, Linkage Disequilibrium, White People, Evolution, Molecular, Viral Matrix Proteins, Cysteine Endopeptidases, Genetics, Population, Asian People, Gene Frequency, Haplotypes, ATP Binding Cassette Transporter, Subfamily B, Member 3, Multienzyme Complexes, Humans, ATP-Binding Cassette Transporters, ATP Binding Cassette Transporter, Subfamily B, Member 2, Alleles, Brazil

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::cc38afa17689378372082d4211e1341d
    https://pubmed.ncbi.nlm.nih.gov/10651845

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  6. 6
    HLA-DQA1 and HLA-DQB1 alleles and haplotypes in two Brazilian Indian tribes: evidence of conservative evolution of HLA-DQ

    المؤلفون: V S, Sotomaior, F R, Faucz, C, Schafhauser, M, Janzen-Dück, A B, Boldt, M L, Petzl-Erler

    المصدر: Human biology. 70(4)

    مصطلحات موضوعية: Polymorphism, Genetic, Gene Frequency, Haplotypes, HLA-DQ Antigens, Indians, South American, Genetic Variation, HLA-DQ beta-Chains, Humans, Selection, Genetic, Biological Evolution, Alleles, Brazil, HLA-DQ alpha-Chains

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::a5a81309a0b5a1ce57a0d35b73debbef
    https://pubmed.ncbi.nlm.nih.gov/9686487

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