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المؤلفون: Fabio Sirchia, Cristina Molinatto, Andrea Gazzin, Simona Cardaropoli, Giovanni Battista Ferrero, Giuseppe Palumbo, Giuseppe Zampino, Alessandro Mussa, Diana Carli
المصدر: American Journal of Medical Genetics Part A.
مصطلحات موضوعية: Adult, Hepatoblastoma, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, adult phenotype, Beckwith-Wiedemann syndrome, cancer risk, Adolescent, Beckwith–Wiedemann syndrome, 030105 genetics & heredity, Malignancy, Wilms Tumor, Genomic Imprinting, Young Adult, 03 medical and health sciences, Neoplasms, Genetics, Macroglossia, Humans, Medicine, Adrenal adenoma, Genetics (clinical), Azoospermia, Asphyxia, business.industry, DNA Methylation, Middle Aged, Precursor Cell Lymphoblastic Leukemia-Lymphoma, medicine.disease, 030104 developmental biology, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Cohort, Sertoli Cell Tumor, Female, medicine.symptom, business
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المؤلفون: Diana Carli, Elisa Giorgio, Francesca Pantaleoni, Alessandro Bruselles, Sabina Barresi, Evelise Riberi, Francesco Licciardi, Andrea Gazzin, Giuseppina Baldassarre, Simone Pizzi, Marcello Niceta, Francesca C. Radio, Cristina Molinatto, Davide Montin, Pier L. Calvo, Andrea Ciolfi, Nicole Fleischer, Giovanni B. Ferrero, Alfredo Brusco, Marco Tartaglia
المصدر: Human Mutation. 40
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Marcello Niceta, Giovanni Battista Ferrero, Francesca Clementina Radio, Alessandro Bruselles, Giuseppina Baldassarre, Pier Luigi Calvo, Francesco Licciardi, Nicole Fleischer, Davide Montin, Evelise Riberi, Sabina Barresi, Cristina Molinatto, Marco Tartaglia, Alfredo Brusco, Andrea Ciolfi, Elisa Giorgio, Andrea Gazzin, Simone Pizzi, Diana Carli, Francesca Pantaleoni
مصطلحات موضوعية: Male, media_common.quotation_subject, Facial profile, Nonsense, Biology, genotype-phenotype correlation, 03 medical and health sciences, Protein Domains, Loss of Function Mutation, Hypotelorism, Clinical information, Exome Sequencing, Genetics, medicine, Humans, Abnormalities, Multiple, NBAS, Child, Genotype-Phenotype Correlations, Genetics (clinical), Immunodeficiency, Genetic Association Studies, Silent Mutation, 030304 developmental biology, media_common, 0303 health sciences, splicing variant, 030305 genetics & heredity, acute liver failure, medicine.disease, Phenotype, Neoplasm Proteins, Pedigree, Hepatic Involvement, Child, Preschool, facial recognition technology, Female, face2gene
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::852b46e0f73eb6375274ce5cf648a5f2
http://hdl.handle.net/2318/1694271 -
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المؤلفون: Cecilia Mancini, Elena Gaidolfi, Cristina Molinatto, Elisa Biamino, Marco Tartaglia, Andrea Ciolfi, Eleonora Di Gregorio, Elisa Giorgio, Simona Cavalieri, Viviana Caputo, Alessandro Bruselles, Alfredo Brusco, Margherita Silengo, Elga Fabia Belligni, Alessandro Calcia, Giovanni Battista Ferrero
المصدر: American Journal of Medical Genetics Part A. 170:1772-1779
مصطلحات موضوعية: 0301 basic medicine, Proband, Microcephaly, Ataxia, Cerebellar Ataxia, Developmental Disabilities, de novo CNV, intellectual disability, TRAPPC9, VLDRL, whole exome sequencing, Genetics, Genetics (clinical), Biology, Nervous System Malformations, Bioinformatics, 03 medical and health sciences, Cerebellum, medicine, Humans, Exome, Genetic Predisposition to Disease, Child, Cerebellar hypoplasia, Exome sequencing, Comparative Genomic Hybridization, Cerebellar ataxia, medicine.disease, Hypotonia, Pedigree, Phenotype, 030104 developmental biology, Receptors, LDL, Child, Preschool, Mutation, Intercellular Signaling Peptides and Proteins, Female, medicine.symptom, Carrier Proteins
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المؤلفون: Donatella Milani, Daniela Melis, Andrea Riccio, Marina Macchiaiolo, Cristina Molinatto, Silvia Russo, Milena Mariani, Giovanni Battista Ferrero, Lidia Larizza, Luigi Tarani, Angelo Selicorni, Maria Francesca Bedeschi, A. de Crescenzo, Luciano Calzari, Andrea Freschi, Maria Vittoria Cubellis, Silvia Maitz, Andrea Bartuli, Giuseppina Baldassarre, Margherita Silengo, Alessandro Mussa
المصدر: Clinical Genetics. 90:21-27
مصطلحات موضوعية: 0301 basic medicine, Fetus, medicine.medical_specialty, Beckwith–Wiedemann syndrome, Gestational age, 030105 genetics & heredity, Biology, Anthropometry, medicine.disease, Uniparental disomy, 03 medical and health sciences, Endocrinology, Premature birth, Internal medicine, Genotype, Genetics, medicine, Gestation, Genetics (clinical)
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المؤلفون: Alessandro Mussa, Cristina Molinatto, Simona Cardaropoli, Diana Carli, Giovanni Battista Ferrero
المصدر: Journal of assisted reproduction and genetics. 35(10)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Beckwith-Wiedemann Syndrome, Reproductive Techniques, Assisted, media_common.quotation_subject, Reproductive medicine, Prenatal diagnosis, 030105 genetics & heredity, Letter to Editor, 03 medical and health sciences, Pregnancy, Prenatal Diagnosis, Genetics, medicine, Humans, Cyclin-Dependent Kinase Inhibitor p57, Genetics (clinical), media_common, Beckwith wiedemann, Omphalocele, Obstetrics, business.industry, Obstetrics and Gynecology, General Medicine, medicine.disease, Human genetics, 030104 developmental biology, Reproductive Medicine, Mutation, Female, Reproduction, business, Hernia, Umbilical, Developmental Biology
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المؤلفون: Andrea Riccio, Flavia Cerrato, Giovanni Battista Ferrero, Alessandro Mussa, Cristina Molinatto, Orazio Palumbo, Clementina Peris, Giuseppina Baldassarre, Massimo Carella, Diana Carli
المساهمون: Mussa, Alessandro, Molinatto, Cristina, Cerrato, Flavia, Palumbo, Orazio, Carella, Massimo, Baldassarre, Giuseppina, Carli, Diana, Peris, Clementina, Riccio, Andrea, Ferrero, Giovanni Battista
المصدر: Pediatrics (Glendale Calif.) 140 (2017). doi:10.1542/peds.2016-4311
info:cnr-pdr/source/autori:Mussa, Alessandro; Molinatto, Cristina; Cerrato, Flavia; Palumbo, Orazio; Carella, Massimo; Baldassarre, Giuseppina; Carli, Diana; Peris, Clementina; Riccio, Andrea; Ferrero, Giovanni Battista/titolo:Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome./doi:10.1542%2Fpeds.2016-4311/rivista:Pediatrics (Glendale Calif.)/anno:2017/pagina_da:/pagina_a:/intervallo_pagine:/volume:140مصطلحات موضوعية: 0301 basic medicine, Infertility, Pediatrics, medicine.medical_specialty, Beckwith-Wiedemann Syndrome, Reproductive Techniques, Assisted, MEDLINE, Beckwith–Wiedemann syndrome, Risk Assessment, 03 medical and health sciences, Reproductive Techniques, 0302 clinical medicine, Retrospective Studie, Prevalence, medicine, Humans, Health risk, Retrospective Studies, 030219 obstetrics & reproductive medicine, business.industry, Infant, Newborn, Infant, Retrospective cohort study, Newborn, medicine.disease, 030104 developmental biology, Increased risk, Assisted, Relative risk, Pediatrics, Perinatology and Child Health, Risk assessment, business, Human
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c9f2eb95c74b07ecc3ee034759b72cb
https://doi.org/10.1542/peds.2016-4311 -
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المؤلفون: Giovanni Battista Ferrero, Alessandro Mussa, Severo Pagliardini, Giuseppina Baldassarre, Margherita Silengo, Cristina Molinatto, Andrea Corrias, Veronica Pagliardini
المصدر: Pediatric Research. 76:544-548
مصطلحات موضوعية: Hepatoblastoma, Male, Pathology, medicine.medical_specialty, Beckwith-Wiedemann Syndrome, Adolescent, Beckwith–Wiedemann syndrome, Predictive Value of Tests, Humans, Medicine, Genetic Predisposition to Disease, Child, Early Detection of Cancer, Dried Blood Spot Testing, Hyperplasia, business.industry, Cancer predisposition, Liver Neoplasms, Case-control study, Infant, Reproducibility of Results, medicine.disease, digestive system diseases, Dried blood spot, Case-Control Studies, Child, Preschool, Predictive value of tests, Pediatrics, Perinatology and Child Health, Feasibility Studies, Female, alpha-Fetoproteins, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17863de66f3504d490123aa7e366ca2e
https://doi.org/10.1038/pr.2014.126 -
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المؤلفون: Andrea Gazzin, Diana Carli, Fabio Sirchia, Cristina Molinatto, Simona Cardaropoli, Giuseppe Palumbo, Giuseppe Zampino, Giovanni Battista Ferrero, Alessandro Mussa
المصدر: American Journal of Medical Genetics Part A. 179:i-i
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Alessandro Mussa, Diana Carli, Giuseppina Baldassarre, Giovanni Battista Ferrero, Cristina Molinatto
المصدر: American journal of medical genetics. Part A. 173(3)
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Physical examination, 030105 genetics & heredity, Short stature, Bone and Bones, Bone remodeling, 03 medical and health sciences, Child Development, Internal medicine, Genetics, Medicine, Humans, bone metabolism, Noonan syndrome, QUS, Rasopathies, Genetics (clinical), Child, medicine.diagnostic_test, business.industry, Noonan Syndrome, Puberty, Autosomal dominant trait, Infant, Bone age, medicine.disease, 030104 developmental biology, Endocrinology, Phenotype, Child, Preschool, Cohort, Female, medicine.symptom, business, Body mass index, Biomarkers
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