المؤلفون: Chen, Jian-Hua, Segni, Maria, Payne, Felicity, Huang-Doran, Isabel, Sleigh, Alison, Adams, Claire, UK10K Consortium, Savage, David B, O'Rahilly, Stephen, Semple, Robert K, Barroso, Inês

مصطلحات موضوعية: POC1A, centriole, centrosome, diabetes, dyslipidaemia, insulin resistance, primary cilium, short stature, skeletal dysplasia, Adult, Amino Acid Sequence, Body Height, Cell Cycle, Cell Cycle Proteins, Centrioles, Cytoskeletal Proteins, Dwarfism, Facies, Fatty Liver, Female, Frameshift Mutation, Humans, Mitosis, Molecular Sequence Data, Protein Isoforms, Proteins, Sequence Alignment, Spindle Apparatus

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/250316Test

الإتاحة: https://www.repository.cam.ac.uk/handle/1810/250316Test

المؤلفون: Santaguida, Maria Giulia, Gatto, Ilenia, Mangino, Giorgio, Virili, Camilla, Stramazzo, Ilaria, Fallahi, Poupak, Antonelli, Alessandro, Segni, Maria, Romeo, Giovanna, Centanni, Marco

المساهمون: Santaguida, Maria Giulia, Gatto, Ilenia, Mangino, Giorgio, Virili, Camilla, Stramazzo, Ilaria, Fallahi, Poupak, Antonelli, Alessandro, Segni, Maria, Romeo, Giovanna, Centanni, Marco

مصطلحات موضوعية: Breg cell, Cellular immunity, Hashimoto's thyroiditi, Polyglandular autoimmune syndrome, Thyroid autoimmunity, ADP-ribosyl Cyclase 1, Adult, Antigens, CD19, Autoimmune Disease, B-Lymphocytes, Regulatory, CD24 Antigen, Case-Control Studie, Celiac Disease, Female, Gastritis, Atrophic, Hashimoto Disease, Human, Interleukin-10, Male, Membrane Glycoprotein, Middle Aged, Th17 Cell, Tumor Necrosis Factor Receptor Superfamily, Member 7, Vitiligo, Immunology and Allergy, Immunology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28461108; info:eu-repo/semantics/altIdentifier/wos/WOS:000414888300005; volume:184; firstpage:42; lastpage:47; numberofpages:6; journal:CLINICAL IMMUNOLOGY; http://hdl.handle.net/11568/920367Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85018985338; https://www.sciencedirect.com/science/article/pii/S152166161630568XTest

الإتاحة: https://doi.org/10.1016/j.clim.2017.04.012Test
http://hdl.handle.net/11568/920367Test
https://www.sciencedirect.com/science/article/pii/S152166161630568XTest

المؤلفون: Elli, Francesca Marta, Bordogna, Paolo, De Sanctis, Luisa, Giachero, Federica, Verrua, Elisa, Segni, Maria, Mazzanti, Laura, Boldrin, Valentina, Toromanovic, Alma, Spada, Anna, Mantovani, Giovanna

المساهمون: Elli, Francesca Marta, Bordogna, Paolo, De Sanctis, Luisa, Giachero, Federica, Verrua, Elisa, Segni, Maria, Mazzanti, Laura, Boldrin, Valentina, Toromanovic, Alma, Spada, Anna, Mantovani, Giovanna*

مصطلحات موضوعية: ACRODYSOSTOSIS, AHO, GNAS, PDE4D, PRKAR1A, Adolescent, Adult, Child, Preschool, Cyclic AMP-Dependent Protein Kinase RIalpha Subunit, Cyclic Nucleotide Phosphodiesterases, Type 4, Female, Human, Italy, Male, Pseudopseudohypoparathyroidism, Mutation, Missense, Endocrinology, Diabetes and Metabolism, Orthopedics and Sports Medicine

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26763073; info:eu-repo/semantics/altIdentifier/wos/WOS:000377269200012; volume:31; issue:6; firstpage:1215; lastpage:1224; numberofpages:10; journal:JOURNAL OF BONE AND MINERAL RESEARCH; http://hdl.handle.net/11585/628481Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84971553908; http://onlinelibrary.wiley.com/journal/10.1002Test/(ISSN)1523-4681

الإتاحة: https://doi.org/10.1002/jbmr.2785Test
http://hdl.handle.net/11585/628481Test

المؤلفون: Elli, Francesca Marta, Bordogna, Paolo, De Sanctis, Luisa, Giachero, Federica, Verrua, Elisa, Segni, Maria, Mazzanti, Laura, Boldrin, Valentina, Toromanovic, Alma, Spada, Anna, Mantovani, Giovanna

المساهمون: Elli, Francesca Marta, Bordogna, Paolo, De Sanctis, Luisa, Giachero, Federica, Verrua, Elisa, Segni, Maria, Mazzanti, Laura, Boldrin, Valentina, Toromanovic, Alma, Spada, Anna, Mantovani, Giovanna

المصدر: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 31(6)

مصطلحات موضوعية: musculoskeletal diseases, Adult, Male, Adolescent, Endocrinology, Diabetes and Metabolism, Cyclic AMP-Dependent Protein Kinase RIalpha Subunit, Mutation, Missense, PDE4D, GNAS, Endocrinology, Humans, Orthopedics and Sports Medicine, Child, ACRODYSOSTOSIS, AHO, PRKAR1A, Medicine (all), Cyclic Nucleotide Phosphodiesterases, Type 4, Diabetes and Metabolism, Italy, Child, Preschool, Pseudopseudohypoparathyroidism, Female, Human

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::870c35f26194fce3f3148110f29fbb61Test
https://pubmed.ncbi.nlm.nih.gov/26763073Test

المؤلفون: Chen, Jian Hua, Segni, Maria, Payne, Felicity, Huang-Doran, Isabel, Sleigh, Alison, Adams, Claire, Durbin, Richard, Muddyman, Dawn, Soranzo, Nicole, Timpson, Nic, Spector, Tim, Richards, Bren, Palotie, Aarno, Owen, Michael, Barrett, Jeff, Geschwind, Daniel, Hurles, Matt, Fitzpatrick, David, Barroso, Inês, Farooqi, Sadaf, Zeggini, Eleftheria, Kaye, Jane, Kennedy, Karen, McCarthy, Shane, Stalker, Jim, Langford, Cordelia, Keane, Thomas, Savage, David B., O’Rahilly, Stephen, Semple, Robert K.

المصدر: Chen, J H, Segni, M, Payne, F, Huang-Doran, I, Sleigh, A, Adams, C, Durbin, R, Muddyman, D, Soranzo, N, Timpson, N, Spector, T, Richards, B, Palotie, A, Owen, M, Barrett, J, Geschwind, D, Hurles, M, Fitzpatrick, D, Barroso, I, Farooqi, S, Zeggini, E, Kaye, J, Kennedy, K, McCarthy, S, Stalker, J, Langford, C, Keane, T, Savage, D B, O’Rahilly, S & Semple, R K 2015, ' Truncation of POC1A associated with short stature and extreme insulin resistance ', Journal of Molecular Endocrinology, vol. 55, no. 2, pp. 147-158 . https://doi.org/10.1530/JME-15-0090Test

مصطلحات موضوعية: Adult, Dyslipidaemia, Molecular Sequence Data, Mitosis, Cell Cycle Proteins, Dwarfism, Spindle Apparatus, Article, POC1A, Humans, Protein Isoforms, Amino Acid Sequence, Frameshift Mutation, Centrioles, Centrosome, Primary cilium, Diabetes, Cell Cycle, Facies, Proteins, Insulin resistance, Centriole, centriole, centrosome, diabetes, dyslipidaemia, insulin resistance, primary cilium, short stature, skeletal dysplasia, Body Height, Fatty Liver, Short stature, Cytoskeletal Proteins, Skeletal dysplasia, Female, Insulin Resistance, Sequence Alignment

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5372ee0fa257b487c0ac64b6506b693cTest
https://pubmed.ncbi.nlm.nih.gov/26336158Test

المؤلفون: Domenico Vladimiro Libri, Gunnar, Kleinau, Valeria, Vezzoli, Marta, Busnelli, Fabiana, Guizzardi, Antonio Agostino Sinisi, Angela Ida Pincelli, Antonio, Mancini, Gianni, Russo, Paolo Beck Peccoz, Sandro, Loche, Claudio, Crivellaro, Maghnie, Mohamad, Csilla, Krausz, Luca, Persani, Marco, Bonomi, Aimaretti, G., Altobelli, M., Arnaldi, G., Baldi, M., Bartalena, L., Beccaria, L., Bellastella, G., Bellizzi, M., Bona, G., Borretta, G., Buzi, F., Cannavo, S., Cappa, M., Cariboni, A., Ciampani, T., Cicognani, A., Cisternino, M., Corbetta, S., Corciulo, N., Corona, G., Cozzi, R., D'Elia, A. V., Degli Uberti, E., De Marchi, M., Forti, G., Di Iorgi, N., Isidori, Andrea, Fabbri, A., Ferlin, A., Foresta, C., Franceschi, R., Garolla, A., Gaudino, R., Giagulli, V., Grosso, E., Jannini, E., Lanfranco, F., Larizza, L., Lenzi, A., Lombardo, Francesco, Limone, P., Maggi, M., Maggi, R., Maggio, M. C., Mandrile, G., Marino, M., Mencarelli, M. A., Migone, N., Neri, G., Perroni, L., Pignatti, E., Pilotta, A., Pizzocaro, A., Pontecorvi, A., Pozzobon, G., Prodam, F., Radetti, G., Razzore, P., Salerno, M. C., Salvatoni, A., Salvini, F., Secco, A., Segni, Maria, Simoni, M., Vigneri, R., Weber, G.

المساهمون: Libri, Dv, Kleinau, G, Vezzoli, V, Busnelli, M, Guizzardi, F, Sinisi, Antonio Agostino, Pincelli, Ai, Mancini, A, Russo, G, Beck Peccoz, P, Loche, S, Crivellaro, C, Maghnie, M, Krausz, C, Persani, L, Bonomi, M., Libri DV, Kleinau G, Vezzoli V, Busnelli M, Guizzardi F, Sinisi AA, Pincelli AI, Mancini A, Russo G, Beck-Peccoz P, Loche S, Crivellaro C, Maghnie M, Krausz C, Persani L, Bonomi M, Maggio MC, et al, Libri, Domenico Vladimiro, Kleinau, Gunnar, Vezzoli, Valeria, Busnelli, Marta, Guizzardi, Fabiana, Pincelli, Angela Ida, Mancini, Antonio, Russo, Gianni, Beck Peccoz, Paolo, Loche, Sandro, Crivellaro, Claudio, Maghnie, Mohamad, Krausz, Csilla, Persani, Luca, Bonomi, Marco, Salerno, Mariacarolina

مصطلحات موضوعية: Male, Kallmann syndrome, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Inositol Phosphate, medicine.disease_cause, Biochemistry, Hypogonadotropic hypogonadism, Germline, Receptors, G-Protein-Coupled, Cohort Studies, Endocrinology, Settore MED/38 - Pediatria Generale E Specialistica, Adolescent, Adult, Child, Cyclic AMP, Female, Genetic Association Studies, Humans, Hypogonadism, Inositol Phosphates, Middle Aged, Mutation, Missense, Receptors, Peptide, Signal Transduction, Young Adult, Germ-Line Mutation, Receptors, mutations, septo-optic dysplasia, Missense mutation, Receptor, Mutation, Prokineticin, Peptide, Human, medicine.medical_specialty, Adolescent, Adult, Child, Cohort Studies, Cyclic AMP, metabolism, Female, Genetic Association Studies, Germ-Line Mutation, Humans, Hypogonadism, epidemiology/genetics, Inositol Phosphates, metabolism, Male, Middle Aged, Missense, Receptors, G-Protein-Coupled, genetics, Receptors, genetics, Signal Transduction, genetics, Young Adult, Genetic Association Studie, Biology, Germline mutation, Internal medicine, medicine, Biochemistry (medical), Prokineticin receptor 2, medicine.disease, PROKR2, hypogonadism, prokineticin, Missense, Cohort Studie

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87417b823a6d0021f0f7ba5c112778b1Test
http://hdl.handle.net/2318/151619Test