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1Academic JournalImpact of pubertal timing on growth progression and final height in subjects affected by RASopathies
المؤلفون: Federica Tamburrino, Laura Mazzanti, Dino Gibertoni, Concetta Schiavariello, Annamaria Perri, Eleonora Orlandini, Cesare Rossi, Marco Tartaglia, Marcello Lanari, Emanuela Scarano
المصدر: Frontiers in Endocrinology, Vol 15 (2025)
مصطلحات موضوعية: Noonan syndrome, Mazzanti syndrome, RASopathies, puberty, growth hormone, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Federica Tamburrino, Laura Mazzanti, Emanuela Scarano, Dino Gibertoni, Maria Sirolli, Maximiliano Zioutas, Concetta Schiavariello, Annamaria Perri, Alessio Mantovani, Cesare Rossi, Marco Tartaglia, Andrea Pession
المصدر: Frontiers in Endocrinology, Vol 14 (2023)
مصطلحات موضوعية: Noonan Syndrome, Mazzanti syndrome, RASopathies, cholesterol, tryglicerides, BMI, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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3
المؤلفون: Federica Tamburrino, Emanuela Scarano, Concetta Schiavariello, Annamaria Perri, Andrea Pession, Laura Mazzanti
المصدر: American journal of medical genetics. Part C, Seminars in medical geneticsREFERENCES. 190(4)
مصطلحات موضوعية: Male, Human Growth Hormone, Growth Hormone, Puberty, Genetics, Quality of Life, Humans, Genetics (clinical), Body Height
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4
المصدر: L'Endocrinologo. 20:257-260
مصطلحات موضوعية: business.industry, Medicine, business, Humanities
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5
المؤلفون: Annamaria Perri, Alessandra Gambineri, Uberto Pagotto, Claudia Oriolo, Emanuela Scarano, Paola Altieri, Carolina Cecchetti, Laura Mazzanti, Francesca Corzani
المصدر: Endocrine Abstracts.
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Turner syndrome, Medicine, Observational study, business, medicine.disease, Term (time)
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6
المؤلفون: Annamaria Perri, Francesca Romana Lepri, Martina Tassone, Giulia Severi, Dino Gibertoni, Laura Mazzanti, Maria Gnazzo, Claudio Graziano, Emanuela Scarano, Federica Tamburrino
المصدر: Molecular Syndromology. 10:130-138
مصطلحات موضوعية: 0303 health sciences, business.industry, Point mutation, 030305 genetics & heredity, KBG SYNDROME, medicine.disease, Bioinformatics, Genetic analysis, Short stature, Growth hormone treatment, 03 medical and health sciences, Macrodontia (tooth), Clinical diagnosis, Genetics, medicine, Original Article, medicine.symptom, business, Genetics (clinical), Exome sequencing, 030304 developmental biology
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7
المؤلفون: Emanuela Scarano, Giulia Severi, Annamaria Perri, Roberta Zuntini, Laura Mazzanti, Claudio Graziano, Soara Menabo, Elena Bonora, Federica Isidori
المصدر: Cytogenetic and Genome Research. 157:135-140
مصطلحات موضوعية: Genetics, 0303 health sciences, 030305 genetics & heredity, Brachydactyly, Chondrocyte hypertrophy, Biology, medicine.disease, Short stature, HDAC4, Frameshift mutation, 03 medical and health sciences, Short Stature Homeobox Protein, medicine, medicine.symptom, Haploinsufficiency, Molecular Biology, Genetics (clinical), Exome sequencing, 030304 developmental biology
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8Academic Journal
المؤلفون: Pamela Magini, Emanuela Scarano, Ilaria Donati, Alberto Sensi, Laura Mazzanti, Annamaria Perri, Federica Tamburrino, Patrizia Mongelli, Antonio Percesepe, Paola Visconti, Antonia Parmeggiani, Marco Seri, Claudio Graziano
المساهمون: Pamela Magini, Emanuela Scarano, Ilaria Donati, Alberto Sensi, Laura Mazzanti, Annamaria Perri, Federica Tamburrino, Patrizia Mongelli, Antonio Percesepe, Paola Visconti, Antonia Parmeggiani, Marco Seri, Claudio Graziano
مصطلحات موضوعية: Intellectual disability, Autism, SND1, DNMT3A, 17p13.1 duplication, Xq13.1 duplication
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/31085274; info:eu-repo/semantics/altIdentifier/wos/WOS:000472241500021; volume:706; firstpage:162; lastpage:171; numberofpages:10; journal:GENE; http://hdl.handle.net/11585/687495; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85065647984
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9
المؤلفون: Claudio Graziano, Patrizia Mongelli, Laura Mazzanti, Antonio Percesepe, Federica Tamburrino, Paola Visconti, Annamaria Perri, Alberto Sensi, Emanuela Scarano, Ilaria Donati, Antonia Parmeggiani, Pamela Magini, Marco Seri
المساهمون: Pamela Magini, Emanuela Scarano, Ilaria Donati, Alberto Sensi, Laura Mazzanti, Annamaria Perri, Federica Tamburrino, Patrizia Mongelli, Antonio Percesepe, Paola Visconti, Antonia Parmeggiani, Marco Seri, Claudio Graziano
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, DNA Copy Number Variations, Kinesins, Biology, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Intellectual disability, mental disorders, Genetics, medicine, Humans, In patient, Copy-number variation, Autistic Disorder, Child, Gene, Epilepsy, Infant, Nuclear Proteins, General Medicine, medicine.disease, Endonucleases, Intellectual disability, Autism, SND1, DNMT3A, 17p13.1 duplication, Xq13.1 duplication, 030104 developmental biology, Neurodevelopmental Disorders, 030220 oncology & carcinogenesis, Child, Preschool, Autism, Medical genetics, Identification (biology), Female, Transcription Factors
وصف الملف: ELETTRONICO
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10
المؤلفون: Federica Tamburrino, Antonia Parmeggiani, Patrizia Mongelli, Laura Mazzanti, Annamaria Perri, Pamela Magini, Emanuela Scarano, Paola Visconti, Ilaria Donati, Marco Seri, Claudio Graziano, Alberto Sensi, Antonio Percesepe
المصدر: Gene. 735
مصطلحات موضوعية: Interpretation (philosophy), Genetics, General Medicine, Copy-number variation, Computational biology, Biology, Gene
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11
المؤلفون: Malgorzata Wasniewska, Maria Chiara Pellegrin, Rita Fischetto, Francesca Macchi, Antonella Lonero, Sara Osimani, A. Crinò, Adriana Franzese, Sarah Bocchini, Gilda Cassano, Luana Nosetti, Annamaria Perri, Giuseppa Patti, Maria Rosaria Licenziati, Michele Sacco, Stefano Stagi, Alessandro Salvatoni, G. Trifirò, Rosanna Lia, Simona Filomena Madeo, Irene Rutigliano, Lorenzo Iughetti, Paola Giordano, Danilo Fintini, Gianluca Tornese, Alessio Convertino, Patrizia Matarazzo, Graziano Grugni, S. Ferraris, Emanuela Scarano, Domenico Corica, Valentina Fattorusso, Viviana Valeria Palmieri, Roberta Pajno, L. Ragusa, Maurizio Delvecchio
المساهمون: Palmieri, V. V., Lonero, A., Bocchini, S., Cassano, G., Convertino, A., Corica, D., Crino, A., Fattorusso, V., Ferraris, S., Fintini, D., Franzese, A., Grugni, G., Iughetti, L., Lia, R., Macchi, F., Madeo, S. F., Matarazzo, P., Nosetti, L., Osimani, S., Pajno, R., Patti, G., Pellegrin, M. C., Perri, A., Ragusa, L., Rutigliano, I., Sacco, M., Salvatoni, A., Scarano, E., Stagi, S., Tornese, G., Trifiro, G., Wasniewska, M., Fischetto, R., Giordano, P., Licenziati, M. R., Delvecchio, M.
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Growth hormone therapy, 030209 endocrinology & metabolism, Adverse effect, Gastroenterology, Growth velocity, 03 medical and health sciences, Adverse effects, IGF-1, Prader-Willi syndrome, Uniparental disomy, Child, Child, Preschool, Female, Human Growth Hormone, Humans, Infant, Insulin-Like Growth Factor I, Prader-Willi Syndrome, Prognosis, Uniparental Disomy, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Preschool, Normal range, business.industry, Human growth hormone, medicine.disease, Highly sensitive, 030104 developmental biology, Gh treatment, business
وصف الملف: STAMPA
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12
المؤلفون: Uberto Pagotto, Alessandra Gambineri, Emanuela Scarano, Laura Mazzanti, Daniela Ibarra-Gasparini, Annamaria Perri, Paola Altieri, Antonio Maria Morselli-Labate, Renato Pasquali
المساهمون: Ibarra-Gasparini, Daniela, Altieri, Paola, Scarano, Emanuela, Perri, Annamaria, Morselli-Labate, Antonio M, Pagotto, Uberto, Mazzanti, Laura, Pasquali, Renato, Gambineri, Alessandra
مصطلحات موضوعية: Adult, Blood Glucose, 0301 basic medicine, medicine.medical_specialty, Pediatrics, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Growth hormone therapy, Turner syndrome, 030209 endocrinology & metabolism, Physical examination, Diabete, Fasting glucose, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Hormone replacement therapy (female-to-male), Interquartile range, Diabetes mellitus, Internal medicine, Humans, Insulin, Medicine, Prospective Studies, Retrospective Studies, medicine.diagnostic_test, business.industry, Glucose Tolerance Test, Middle Aged, medicine.disease, 030104 developmental biology, Diabetes Mellitus, Type 2, Hormone replacement therapy, Female, Observational study, business, Blood sampling
وصف الملف: ELETTRONICO
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13
المؤلفون: Piero Pirazzoli, Annamaria Perri, Emanuela Scarano, Stefano Gualandi, Alessandro Cicognani, E Cacciari, Laura Mazzanti, S. Nanni, Stefano Zucchini, R. Bergamaschi
المصدر: Acta Paediatrica. 88:610-613
مصطلحات موضوعية: Male, medicine.medical_specialty, Down syndrome, X Chromosome, Gonad, Adolescent, Dopamine Agents, Radioimmunoassay, Turner Syndrome, Chromosome Disorders, Levodopa, Age Determination by Skeleton, Internal medicine, Blood plasma, Turner syndrome, medicine, Humans, Child, Growth Disorders, Chromosome Aberrations, Electronic Data Processing, Human Growth Hormone, business.industry, Bone age, General Medicine, medicine.disease, Growth hormone secretion, Pathophysiology, medicine.anatomical_structure, Endocrinology, Child, Preschool, Karyotyping, Pediatrics, Perinatology and Child Health, Female, Down Syndrome, business
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14
المؤلفون: Andrea Pession, Annamaria Perri, Maria Pia Fantini, Federica Tamburrino, Dino Gibertoni, Cesare Rossi, Emanuela Scarano, Francesca Montanari, Marco Tartaglia, Laura Mazzanti
المساهمون: Tamburrino, Federica, Gibertoni, Dino, Rossi, Cesare, Scarano, Emanuela, Perri, Annamaria, Montanari, Francesca, Fantini, Maria Pia, Pession, Andrea, Tartaglia, Marco, Mazzanti, Laura
المصدر: American journal of medical genetics. Part A. (11)
مصطلحات موضوعية: Male, medicine.medical_specialty, Time Factors, medicine.medical_treatment, Population, RASopathy, Growth hormone deficiency, Cohort Studies, Basal (phylogenetics), Final height, Internal medicine, RASopathie, Genetics, medicine, Noonan syndrome, Humans, education, Child, Growth hormone, Genetics (clinical), education.field_of_study, Body proportions, business.industry, Human Growth Hormone, Puberty, Infant, Newborn, Bone age, medicine.disease, Body Height, Endocrinology, Treatment Outcome, ras Proteins, Female, Hormone therapy, Growth and Development, business
وصف الملف: ELETTRONICO
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15
المؤلفون: R. Bergamaschi, Annamaria Perri, C. Magnani, Laura Mazzanti, Daniela Prandstraller, E Cacciari, E. Tsingos, Fernando M. Picchio
المصدر: Pediatric Cardiology. 20:108-112
مصطلحات موضوعية: Heart Defects, Congenital, Aortic valve disease, medicine.medical_specialty, X Chromosome, Adolescent, Heart malformation, Turner Syndrome, Bicuspid aortic valve, Internal medicine, Turner syndrome, medicine, Humans, Child, business.industry, Infant, Newborn, Infant, Vascular surgery, Prognosis, medicine.disease, Turner's syndrome, Cardiac surgery, Stenosis, Phenotype, Child, Preschool, Karyotyping, Pediatrics, Perinatology and Child Health, Cardiology, Female, Chromosome Deletion, Cardiology and Cardiovascular Medicine, business
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16
المؤلفون: Cristina Magnani, Emanuele Cacciari, R. Bergamaschi, Davide Tassinari, Laura Mazzanti, Annamaria Perri, Emanuela Scarano, Valeria Pluchinotta
المصدر: The Journal of Pediatrics. 131:135-140
مصطلحات موضوعية: Adult, medicine.medical_specialty, X Chromosome, Adolescent, medicine.drug_class, Uterus, Turner Syndrome, Ovary, Follicle-stimulating hormone, Age Determination by Skeleton, Turner syndrome, medicine, Humans, Breast, Longitudinal Studies, Sexual Maturation, Child, Sex Chromosome Aberrations, Ultrasonography, Menarche, Gynecology, Mosaicism, business.industry, Puberty, Age Factors, Infant, Bone age, Luteinizing Hormone, Prognosis, medicine.disease, Cross-Sectional Studies, medicine.anatomical_structure, In utero, Child, Preschool, Karyotyping, Pediatrics, Perinatology and Child Health, Female, Follicle Stimulating Hormone, Gonadotropin, business, Follow-Up Studies
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17
المؤلفون: Benedetta Vestrucci, Cesare Rossi, Annamaria Perri, Marco Tartaglia, Laura Mazzanti, Monica Guidetti, Emanuela Scarano, Federica Tamburrino
المساهمون: Mazzanti, L, Tamburrino, F, Scarano, E, Perri, A, Vestrucci, B, Guidetti, M, Rossi, C, Tartaglia, M
المصدر: American journal of medical genetics. Part A. (11)
مصطلحات موضوعية: Delayed puberty, Male, medicine.medical_specialty, Hormone Replacement Therapy, Population, Short stature, Growth hormone deficiency, rasopathie, Internal medicine, Genetics, medicine, Loose Anagen Hair Syndrome, Missense mutation, Humans, Allele, Growth Charts, education, Child, Genetics (clinical), education.field_of_study, SHOC2, business.industry, Human Growth Hormone, Noonan Syndrome, Puberty, Intracellular Signaling Peptides and Proteins, Infant, NS/LAH, medicine.disease, Body Height, Endocrinology, Phenotype, Child, Preschool, Cohort, growth hormone, Mutation, Noonan syndrome, Female, medicine.symptom, business
وصف الملف: ELETTRONICO
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18
المؤلفون: Laura Mazzanti, Antonino Forabosco, Annamaria Perri, Annalisa Patrizi, Isabella Neri, E Cacciari, R. Bergamaschi
مصطلحات موضوعية: Hypertrichosis, medicine.medical_specialty, Verbal learning, senile skin, redundant, Ablepharon macrostomia syndrome, Internal medicine, medicine, Humans, Abnormalities, Multiple, Language Development Disorders, Breast, Child, Genetics (clinical), lax, business.industry, Ectropion, Syndrome, Aplasia, Verbal Learning, medicine.disease, Dermatology, hypertrichosis, Macrostomia, ectropion, Endocrinology, Face, Redundant skin, Female, sense organs, Psychomotor Disorders, business, Psychomotor disorder
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