CASSINA, MATTEO

CASSINA, MATTEO  

Dipartimento di Salute della Donna e del Bambino - SDB  

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Risultati 1 - 20 di 77 (tempo di esecuzione: 0.046 secondi).
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
14q12 duplication including FOXG1: Is there a common age-dependent epileptic phenotype? 2014 CASSINA, MATTEOTOLDO, IRENEMURGIA, ALESSANDRAS. Sartori + BRAIN & DEVELOPMENT - -
A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus 2014 ZANETTI, ALESSANDRATOMANIN, ROSELLARAMPAZZO, ANGELICARIGON, CHIARAGASPAROTTO, NICOLETTACASSINA, MATTEOCLEMENTI, MAURIZIOSCARPA, MAURIZIO JIMD REPORTS - -
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes 2016 CASSINA, MATTEOCLEMENTI, MAURIZIO + CLINICAL EPIGENETICS - -
A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome. 2017 CASSINA, MATTEOCERQUA, CRISTINASALVIATI, LEONARDOMARTINI, ALESSANDROCLEMENTI, MAURIZIOTREVISSON, EVA + EUROPEAN JOURNAL OF HUMAN GENETICS - -
Analysis of p53 polymorphisms in individuals with multiple melanocytic nevi 2013 BRUSON, ALICEZATTRA, EDOARDOCASSINA, MATTEOBALDO, VINCENZOCLEMENTI, MAURIZIOALAIBAC, MAURO SALVATORE ALESSANDRO + EUROPEAN JOURNAL OF DERMATOLOGY - -
Associations Between Attention-Deficit/Hyperactivity Disorder and Various Eating Disorders: A Swedish Nationwide Population Study Using Multiple Genetically Informative Approaches 2019 Cassina M.Clementi M.Degortes D.Favaro A.Forzan M.Tenconi E. + BIOLOGICAL PSYCHIATRY - -
Auditory Outcome after Cochlear Implantation in Children with DFNB7/11 Caused by Pathogenic Variants in TMC1 Gene 2020 Gallo, SamantaTrevisi, PatriziaRigon, ChiaraSeif Ali, DarioBovo, RobertoMartini, AlessandroCassina, Matteo + AUDIOLOGY & NEURO-OTOLOGY - -
Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy 2020 Morbidoni V.Cassina M.Salviati L.Trevisson E. + JOURNAL OF MEDICAL GENETICS - -
Cantú syndrome: A new case and evolution of clinical conditions during first 2-year follow-up 2023 Cassina, Matteo + CLINICAL CASE REPORTS - -
Catechol-O-Methyltransferase (COMT) Val158Met Polymorphism and Eating Disorders: Data From a New Biobank and Meta-Analysis of Previously Published Studies 2017 Collantoni, EnricoSolmi, MarcoGallicchio, DavideSantonastaso, PaoloMENEGUZZO, PAOLOClementi, MaurizioPINATO, CLAUDIAForzan, MonicaCassina, MatteoSiani, RobertaTenconi, ElenaVeronese, NicolaFavaro, Angela + EUROPEAN EATING DISORDERS REVIEW - -
Catechol-O-Methyltransferase (COMT) Val158Met Polymorphism and Eating Disorders: Data From a New Biobank and Meta-Analysis of Previously Published Studies 2017 Collantoni E.Solmi M.Meneguzzo P.Cassina M.Tenconi E.Favaro A. + EUROPEAN EATING DISORDERS REVIEW - -
Clinical and genetic correlates of decision making in anorexia nervosa 2016 TENCONI, ELENADEGORTES, DANIELACLEMENTI, MAURIZIOCOLLANTONI, ENRICOCASSINA, MATTEOSANTONASTASO, PAOLOFAVARO, ANGELA + NEUROPSYCHOLOGY, DEVELOPMENT, AND COGNITION. SECTION A, JOURNAL OF CLINICAL AND EXPERIMENTAL NEUROPSYCHOLOGY - -
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations 2016 CAO, MICHELANGELODONA', MARTASEMPLICINI, CLAUDIOCASSINA, MATTEOSORARU', GIANNISTRAMARE, ROBERTOSALVIATI, LEONARDOPEGORARO, ELENA + NEUROGENETICS - -
Congenital anomalies in contaminated sites: A multisite study in Italy 2017 CASSINA, MATTEOCLEMENTI, MAURIZIO + INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH - -
Congenital pulmonary airway malformation (CPAM) [congenital cystic adenomatoid malformation] associated with tracheoesophageal fistula and agensesis of the corpus callosum. 2012 PIZZI, MARCOFASSAN, MATTEOLUDWIG, KATHRINCASSINA, MATTEOSALMASO, ROBERTO + FETAL AND PEDIATRIC PATHOLOGY - -
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations. 2012 CASARIN, ALBERTODOIMO, MARABASSO, GIUSEPPECASSINA, MATTEORIZZUTO, ROSARIOCLEMENTI, MAURIZIOTREVISSON, EVASALVIATI, LEONARDO + ORPHANET JOURNAL OF RARE DISEASES - -
Craniosynostosis is a feature of CHD7-related CHARGE syndrome 2021 Cassina M.Salviati L. + AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - -
DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature 2021 Sorrentino, UPiccolo, CRigon, CBrasson, VTrevisson, EMartini, ACassina, M + AUDIOLOGY RESEARCH - -
DNA-based methods for age estimation 2018 Cassina, MatteoClementi, Maurizio - - P5 Medicine and Justice: Innovation, Unitariness and Evidence
Dysfunctional coping is related to impaired skin-related QoL and psychological distress in patients with Neurofibromatosis type 1 2018 M CassinaG BottesiE TrevissonD ZuccarelloG VidottoA SpotoM Clementi - - Atti del 2018 Joint Global Neurofibromatosis Conference