Francesca Novara University of Pavia Biography Publications Institution JoVE Articles Francesca Novara has not added a biography. If you are Francesca Novara and would like to personalize this page please email our Author Liaison for assistance. Publications Haploinsufficiency for ANKRD11-flanking Genes Makes the Difference Between KBG and 16q24.3 Microdeletion Syndromes: 12 New Cases European Journal of Human Genetics : EJHG. Jun, 2017 | Pubmed ID: 28422132 Guideline Recommendations for Diagnosis and Clinical Management of Ring14 Syndrome-first Report of an Ad Hoc Task Force Orphanet Journal of Rare Diseases. Apr, 2017 | Pubmed ID: 28399932 Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome Human Mutation. Mar, 2017 | Pubmed ID: 27805744 Dissection of Partial 21q Monosomy in Different Phenotypes: Clinical and Molecular Characterization of Five Cases and Review of the Literature Molecular Cytogenetics. 2016 | Pubmed ID: 27625702 Comprehensive Characterization of Mesenchymal Stromal Cells from Patients with Fanconi Anaemia British Journal of Haematology. Sep, 2015 | Pubmed ID: 26010568 Refinement of the Critical 2p25.3 Deletion Region: the Role of MYT1L in Intellectual Disability and Obesity Genetics in Medicine : Official Journal of the American College of Medical Genetics. Jun, 2015 | Pubmed ID: 25232846 A Therapeutic Challenge: Liddle's Syndrome Managed with Amiloride During Pregnancy Case Reports in Obstetrics and Gynecology. 2014 | Pubmed ID: 25210634 Genome-wide Copy Number Analysis in Pediatric Glioblastoma Multiforme American Journal of Cancer Research. 2014 | Pubmed ID: 24959384 Defining the Phenotype Associated with Microduplication Reciprocal to Sotos Syndrome Microdeletion American Journal of Medical Genetics. Part A. Aug, 2014 | Pubmed ID: 24819041 In Vitro Biosafety Profile Evaluation of Multipotent Mesenchymal Stem Cells Derived from the Bone Marrow of Sarcoma Patients Journal of Translational Medicine. Apr, 2014 | Pubmed ID: 24716831 Hyper IgE Syndrome: Anaphylaxis in a Patient Carrying the N567D STAT3 Mutation Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology. Aug, 2014 | Pubmed ID: 24628715 MECP2 Duplication Phenotype in Symptomatic Females: Report of Three Further Cases Molecular Cytogenetics. Jan, 2014 | Pubmed ID: 24472397 Disruption of the ASTN2/TRIM32 Locus at 9q33.1 is a Risk Factor in Males for Autism Spectrum Disorders, ADHD and Other Neurodevelopmental Phenotypes Human Molecular Genetics. May, 2014 | Pubmed ID: 24381304 MEF2C Deletions and Mutations Versus Duplications: a Clinical Comparison European Journal of Medical Genetics. May, 2013 | Pubmed ID: 23402836 5p13 Microduplication Syndrome: a New Case and Better Clinical Definition of the Syndrome European Journal of Medical Genetics. Jan, 2013 | Pubmed ID: 23085304 MCT8 Deficiency: Extrapyramidal Symptoms and Delayed Myelination As Prominent Features Journal of Child Neurology. Jun, 2013 | Pubmed ID: 22805248 Twenty-one Cases of Blastic Plasmacytoid Dendritic Cell Neoplasm: Focus on Biallelic Locus 9p21.3 Deletion Blood. Oct, 2011 | Pubmed ID: 21900200 Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome PLoS Genetics. Jul, 2011 | Pubmed ID: 21779178 Severe X-linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-inducing Factor American Journal of Human Genetics. Apr, 2010 | Pubmed ID: 20362274 The 2q23.1 Microdeletion Syndrome: Clinical and Behavioural Phenotype European Journal of Human Genetics : EJHG. Feb, 2010 | Pubmed ID: 19809484 High-resolution Genome-wide Array Comparative Genomic Hybridization in Splenic Marginal Zone B-cell Lymphoma Human Pathology. Nov, 2009 | Pubmed ID: 19647853 배열 CGH, 전체 exome 시퀀싱과 설치류에 Utero에서 Electroporation 뇌 기형에 대 한 원인 유전자를 식별 하는 새로운 전략 Valerio Conti*1, Aurelie Carabalona*2,3,15, Emilie Pallesi-Pocachard2,3,4, Richard J. Leventer5,6,7, Fabienne Schaller2,3,8, Elena Parrini1, Agathe A. Deparis2,3, Françoise Watrin2,3, Emmanuelle Buhler2,3,8, Francesca Novara9, Stefano Lise10, Alistair T. Pagnamenta10, Usha Kini11, Jenny C. Taylor10, Orsetta Zuffardi9,12, Alfonso Represa2,3, David Antony Keays13, Renzo Guerrini1,14, Antonio Falace2,3, Carlos Cardoso2,3 1University of Florence, 2INSERM INMED, 3Aix-Marseille University, 4Plateforme Biologie Moléculaire et Cellulaire INMED, 5Royal Children's Hospital, 6Murdoch Children's Research Institute, 7University of Melbourne, 8Plateforme postgenomique INMED, 9University of Pavia, 10Wellcome Trust Centre for Human Genetics, 11Oxford Radcliffe NHS Trust, 12IRCCS Casimiro Mondino Foundation, 13Research Institute of Molecular Pathology, 14IRCCS Stella Maris, 15Columbia University JoVE 53570 Neuroscience
배열 CGH, 전체 exome 시퀀싱과 설치류에 Utero에서 Electroporation 뇌 기형에 대 한 원인 유전자를 식별 하는 새로운 전략 Valerio Conti*1, Aurelie Carabalona*2,3,15, Emilie Pallesi-Pocachard2,3,4, Richard J. Leventer5,6,7, Fabienne Schaller2,3,8, Elena Parrini1, Agathe A. Deparis2,3, Françoise Watrin2,3, Emmanuelle Buhler2,3,8, Francesca Novara9, Stefano Lise10, Alistair T. Pagnamenta10, Usha Kini11, Jenny C. Taylor10, Orsetta Zuffardi9,12, Alfonso Represa2,3, David Antony Keays13, Renzo Guerrini1,14, Antonio Falace2,3, Carlos Cardoso2,3 1University of Florence, 2INSERM INMED, 3Aix-Marseille University, 4Plateforme Biologie Moléculaire et Cellulaire INMED, 5Royal Children's Hospital, 6Murdoch Children's Research Institute, 7University of Melbourne, 8Plateforme postgenomique INMED, 9University of Pavia, 10Wellcome Trust Centre for Human Genetics, 11Oxford Radcliffe NHS Trust, 12IRCCS Casimiro Mondino Foundation, 13Research Institute of Molecular Pathology, 14IRCCS Stella Maris, 15Columbia University JoVE 53570 Neuroscience