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المؤلفون: Marco Bonomi, Valeria Vezzoli, Csilla Krausz, Fabiana Guizzardi, Silvia Vezzani, Manuela Simoni, Ivan Bassi, Paolo Duminuco, Natascia Di Iorgi, Claudia Giavoli, Alessandro Pizzocaro, Gianni Russo, Mirella Moro, Letizia Fatti, Alberto Ferlin, Laura Mazzanti, Maria Chiara Zatelli, Salvo Cannavò, Andrea M Isidori, Angela Ida Pincelli, Flavia Prodam, Antonio Mancini, Paolo Limone, Maria Laura Tanda, Rossella Gaudino, Mariacarolina Salerno, Pregnolato Francesca, Mohamad Maghnie, Mario Maggi, Luca Persani, G Aimaretti, M Altobelli, M R Ambrosio, M Andrioli, G Angeletti, F Arecco, G Arnaldi, M Arosio, A Balsamo, M Baldassarri, L Bartalena, N Bazzoni, L Beccaria, P Beck-Peccoz, G Bellastella, M Bellizzi, F Benedicenti, S Bernasconi, C Bizzarri, G Bona, S Bonadonna, G Borretta, M Boschetti, A Brunani, V Brunelli, F Buzi, C Cacciatore, B Cangiano, M Cappa, R Casalone, A Cassio, P Cavarzere, V Cherubini, T Ciampani, D Cicognani, A Cignarelli, M Cisternino, P Colombo, S Corbetta, N Corciulo, G Corona, R Cozzi, C Crivellaro, I Dalle Mule, L Danesi, A V D’Elia, E degli Uberti, S De Leo, E Della Valle, M De Marchi, N Di Iorgi, A Di Mambro, A Fabbri, C Foresta, G Forti, A R Franceschi, A Garolla, M Ghezzi, C Giacomozzi, M Giusti, E Grosso, G Guabello, M P Guarneri, G Grugni, A M Isidori, F Lanfranco, A Lania, R Lanzi, L Larizza, A Lenzi, S Loche, P Loli, V Lombardi, M C Maggio, G Mandrile, C Manieri, G Mantovani, S Marelli, M Marzullo, M A Mencarelli, N Migone, G Motta, G Neri, G Padova, G Parenti, B Pasquino, A Pia, E Piantanida, E Pignatti, A Pilotta, B Pivetta, M Pollazzon, A Pontecorvi, P Porcelli, G B Pozzan, G Pozzobon, G Radetti, P Razzore, L Rocchetti, R Roncoroni, G Rossi, E Sala, A Salvatoni, F Salvini, A Secco, M Segni, R Selice, P Sgaramella, F Sileo, A A Sinisi, F Sirchia, A Spada, A Tresoldi, R Vigneri, G Weber, S Zucchini

المساهمون: Bonomi, Marco, Vezzoli, Valeria, Krausz, Csilla, Guizzardi, Fabiana, Vezzani, Silvia, Simoni, Manuela, Bassi, Ivan, Duminuco, Paolo, Di Iorgi, Natascia, Giavoli, Claudia, Pizzocaro, Alessandro, Russo, Gianni, Moro, Mirella, Fatti, Letizia, Ferlin, Alberto, Mazzanti, Laura, Zatelli Maria, Chiara, Cannavò, Salvo, Isidori Andrea, M., Pincelli Angela, Ida, Prodam, Flavia, Mancini, Antonio, Limone, Paolo, Tanda Maria, Laura, Gaudino, Rossella, Salerno, Mariacarolina, Francesca, Pregnolato, Maghnie, Mohamad, Maggi, Mario, Persani, Luca, Italian Network on Central, Hypogonadism., Zatelli, Maria Chiara, Cannavã², Salvo, Isidori, Andrea M., Pincelli, Angela Ida, Tanda, Maria Laura, Aimaretti, G., Altobell, M., Ambrosio, M. R., Andrioli, M., Angelett, G., Arecco, F., Arnald, G., Arosio, M., Balsamo, A., Baldassarr, M., Bartalena, L., Bazzon, N., Beccari, L., Beck-Peccoz, P., Bellastella, G., Bellizz, M., Benedicent, F., Bernasconi, S., Bizzarri, C., Bona, G., Bonadonna, S., Borrett, G., Boschetti, M., Brunani, A., Brunelli, V., Buz, F., Cacciatore, C., Cangiano, B., Cappa, M., Casalone, R., Cassio, A., Cavarzere, P., Cherubini, V., Ciampani, T., Cicognan, D., Cignarell, A., Cisternin, M., Colombo, P., Corbetta, S., Corciul, N., Corona, G., Cozzi, R., Crivellaro, C., Dalle Mule, I., Danesi, L., Eli, A. V. D., Degli Uberti, E., De Leo, S., Della Valle, E., De Marchi, M., Di Iorgi, N., Di Mambr, A., Fabbri, A., Foresta, C., Forti, G., Franceschi, A. R., Garolla, A., Ghezzi, M., Giacomozzi, C., Giusti, M., Grosso, E., Guabello, G., Guarneri, M. P., Grugni, G., Isidori, A. M., Lanfranco, F., Lania, A., Lanzi, R., Larizza, L., Lenzi, A., Loche, S., Loli, P., Lombardi, V., Maggi, M. C., Mandrile, G., Manieri, C., Mantovani, G., Marelli, S., Marzullo, M., Mencarelli, M. A., Migone, N., Motta, G., Neri, G., Padov, G., Parenti, G., Pasquino, B., Pia, A., Piantanida, E., Pignatti, E., Pilotta, A., Pivett, B., Pollazzon, M., Pontecorvi, A., Porcelli, P., Pozza, G. B., Pozzobon, G., Radetti, G., Razzore, P., Rocchett, L., Roncoron, R., Rossi, G., Sala, E., Salvatoni, A., Salvini, F., Secc, A., Segni, M., Selice, R., Sgaramella, P., Sileo, F., Sinisi, A. A., Sirchia, F., Spada, A., Tresoldi, A., Vigneri, R., Weber, G., Zucchini, S., Marco Bonomi, Valeria Vezzoli, Csilla Krausz, Fabiana Guizzardi, Silvia Vezzani, Manuela Simoni, Ivan Bassi, Paolo Duminuco, Natascia Di Iorgi, Claudia Giavoli, Alessandro Pizzocaro, Gianni Russo, Mirella Moro, Letizia Fatti, Alberto Ferlin, Laura Mazzanti, Maria Chiara Zatelli, Salvo Cannavò, Andrea M Isidori, Angela Ida Pincelli, Flavia Prodam, Antonio Mancini, Paolo Limone, Maria Laura Tanda, Rossella Gaudino, Mariacarolina Salerno, Pregnolato Francesca, Mohamad Maghnie, Mario Maggi, Luca Persani, Italian Network on Central Hypogonadism […, A. Cassio, …, S. Zucchini, ], Isidori, Andrea M, Weber, Giovanna, Italian Network on Central, Hypogonadism

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, Synkinesis, Kallmann syndrome, diagnosis, genotype, Endocrinology, Diabetes and Metabolism, Gonadal Steroid Hormone, Cohort Studies, Olfaction Disorders, 0302 clinical medicine, Endocrinology, Olfaction Disorder, Young adult, Age of Onset, Gonadal Steroid Hormones, Gonadotropin, Pituitary Hormone, Isolated hypogonadotropic hypogonadism, General Medicine, isolated hypogonadotropic hypogonadism, pubertal delay, genetic-basis, gonadotropin-deficiency, Diabetes and Metabolism, Phenotype, Italy, Cohort, Female, complex, Cohort study, Human, Adult, medicine.medical_specialty, Adolescent, Gonadotropins, Humans, Hypogonadism, Obesity, Overweight, Pituitary Hormones, Young Adult, 030209 endocrinology & metabolism, NO, 03 medical and health sciences, Hypogonadotropic hypogonadism, Adolescent, Adult, Age of Onset, Cohort Studies, Female, Gonadal Steroid Hormones, Gonadotropins, Humans, Hypogonadis, Italy, Male, Obesity, Olfaction Disorders, Overweight, Phenotype, Pituitary Hormones, Synkinesis, Young Adult, Endocrinology, Diabetes and Metabolism, Endocrinology, Internal medicine, medicine, Isolated hypogonadotropic hypogonadism, Kallmann syndrome, Observational cohort study, gnrh deficiency, disease, business.industry, Settore MED/13 - ENDOCRINOLOGIA, isolated Hypogonadotropic hypogonadism, kallmann syndrome, medicine.disease, body regions, 030104 developmental biology, Sex steroid, linked kallmann-syndrome, heterogeneity, phenotype, Observational cohort study, Synkinesi, Age of onset, Cohort Studie, business

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f800b3107977776e40dbca2a965ea877
http://hdl.handle.net/11383/2066625

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المؤلفون: A, Mussa, S, Russo, A, de Crescenzo, A, Freschi, L, Calzari, S, Maitz, M, Macchiaiolo, C, Molinatto, G, Baldassarre, M, Mariani, L, Tarani, M F, Bedeschi, D, Milani, D, Melis, A, Bartuli, M V, Cubellis, A, Selicorni, M C, Silengo, L, Larizza, A, Riccio, G B, Ferrero

المساهمون: Mussa, A, Russo, S, de Crescenzo, A, Freschi, A, Calzari, L, Maitz, S, Macchiaiolo, M, Molinatto, C, Baldassarre, G, Mariani, M, Tarani, L, Bedeschi, M. F, Milani, D, Melis, D, Bartuli, A, Cubellis, MARIA VITTORIA, Selicorni, A, Silengo, M. C, Larizza, L, Riccio, A, Ferrero, G. B., Russo, S., de Crescenzo, A., Freschi, A., Calzari, L., Maitz, S., Macchiaiolo, M., Molinatto, C., Baldassarre, G., Mariani, M., Tarani, L., Bedeschi, M. F., Milani, D., Melis, D., Bartuli, A., Cubellis, M. V., Selicorni, A., Silengo, M. C., Larizza, L., Riccio, Andrea

المصدر: Clinical genetics 90 (2016): 21–27. doi:10.1111/cge.12759
info:cnr-pdr/source/autori:Mussa, A.; Russo, S.; de Crescenzo, A.; Freschi, A.; Calzari, L.; Maitz, S.; Macchiaiolo, M.; Molinatto, C.; Baldassarre, G.; Mariani, M.; Tarani, L.; Bedeschi, M. F.; Milani, D.; Melis, D.; Bartuli, A.; Cubellis, M. V.; Selicorni, A.; Silengo, M. C.; Larizza, L.; Riccio, A.; Ferrero, G. B./titolo:Fetal growth patterns in Beckwith-Wiedemann syndrome/doi:10.1111%2Fcge.12759/rivista:Clinical genetics/anno:2016/pagina_da:21/pagina_a:27/intervallo_pagine:21–27/volume:90

مصطلحات موضوعية: Beckwith-Wiedemann Syndrome, phenotype, genotype, Beckwith–Wiedemann, Gene Expression, Gestational Age, fetal growth, overgrowth, Anthropometry, Chromosomes, Human, Pair 11, Cyclin-Dependent Kinase Inhibitor p57, Fetal Development, Fetus, Genotype, Humans, Infant, Newborn, Mutation, Phenotype, Premature Birth, DNA Methylation, Genomic Imprinting, Uniparental Disomy, Chromosomes, Beckwith-Wiedemann, Fetal growth, Overgrowth, Genetics (clinical), Genetics, Pair 11, Infant, Newborn, Human

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6af8394faf64ca02aff665df96205ba2
http://hdl.handle.net/11588/667487

المؤلفون: I, Parenti, C, Gervasini, J, Pozojevic, K S, Wendt, E, Watrin, J, Azzollini, D, Braunholz, K, Buiting, A, Cereda, H, Engels, L, Garavelli, R, Glazar, B, Graffmann, L, Larizza, H J, Lüdecke, M, Mariani, M, Masciadri, J, Pié, F J, Ramos, S, Russo, A, Selicorni, M, Stefanova, T M, Strom, R, Werner, J, Wierzba, G, Zampino, G, Gillessen-Kaesbach, D, Wieczorek, F J, Kaiser

المساهمون: Cell biology, Università degli Studi di Milano [Milano] (UNIMI), Institut für Humangenetik Lübeck, Universität zu Lübeck [Lübeck], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Università degli Studi di Milano-Bicocca [Milano] (UNIMIB), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione 'Istituto Neurologico Nazionale C. Mondino', Institute of Human Genetics - Institut für Humangenetik [Essen], Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen)-Universitat Duisberg-Essen, IRCCS Istituto Auxologico Italiano, Clinica Pediatrica, Università cattolica del Sacro Cuore [Milano] (Unicatt), Bundesministerium für Bildung und Forschung, ZonMw, Agence Nationale de la Recherche, Society of Pediatric Psychology, FIS PI12-01318, Spain's Ministry of Health-ISCIII, B20, Gobierno de Aragón, SAL31-ID 17292, Accordo Quadro Università-Regione Lombardia, Università degli Studi di Milano = University of Milan (UNIMI), Universität zu Lübeck = University of Lübeck [Lübeck], Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Università degli Studi di Milano-Bicocca = University of Milano-Bicocca (UNIMIB)

المصدر: Clinical Genetics, 89(5), 564-573. Wiley-Blackwell Publishing Ltd
Clinical Genetics
Clinical Genetics, Wiley, 2016, 89 (5), pp.564-573. ⟨10.1111/cge.12717⟩
Clinical Genetics, 2016, 89 (5), pp.564-573. ⟨10.1111/cge.12717⟩

مصطلحات موضوعية: Male, Genotype, [SDV]Life Sciences [q-bio], Medizin, Sequence Homology, Genetic Counseling, Severity of Illness Index, Histone Deacetylases, Risk Factors, X Chromosome Inactivation, De Lange Syndrome, Genetics, Humans, Amino Acid Sequence, Child, Genetics (clinical), Cohesin, Sequence Homology, Amino Acid, Base Sequence, Mosaicism, Facies, Sequence Analysis, DNA, DNA, Cornelia de Lange syndrome, Repressor Proteins, Amino Acid, Phenotype, Facial Asymmetry, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, HDAC8, Face, Mutation, X-inactivation, Female, Sequence Analysis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e59bb9753566cf4c587bcbcc9e5a3167
http://hdl.handle.net/10807/115198

المؤلفون: L, Basel-Vanagaite, L, Wolf, M, Orin, L, Larizza, C, Gervasini, I D, Krantz, M A, Deardoff

المصدر: Clinical genetics. 89(5)

مصطلحات موضوعية: Male, Chromosomal Proteins, Non-Histone, Facies, Proteins, Reproducibility of Results, Cell Cycle Proteins, Sensitivity and Specificity, Diagnosis, Differential, Phenotype, Facial Asymmetry, De Lange Syndrome, Face, Mutation, Image Processing, Computer-Assisted, Humans, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::6ba16a01b2573133c043dac7b0f5307e
https://pubmed.ncbi.nlm.nih.gov/26663098

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