Orsetta Zuffardi University of Pavia Biography Publications Institution JoVE Articles Orsetta Zuffardi has not added a biography. If you are Orsetta Zuffardi and would like to personalize this page please email our Author Liaison for assistance. Publications Partial Monosomy 8p and Trisomy 16q in Two Children with Developmental Delay Detected by Array Comparative Genomic Hybridization Molecular Medicine Reports. Dec, 2017 | Pubmed ID: 29039589 A Novel APC Promoter 1B Deletion Shows a Founder Effect in Italian Patients with Classical Familial Adenomatous Polyposis Phenotype Genes, Chromosomes & Cancer. Dec, 2017 | Pubmed ID: 28791770 SMARCA4 Inactivating Mutations Cause Concomitant Coffin-Siris Syndrome, Microphthalmia and Small-cell Carcinoma of the Ovary Hypercalcaemic Type The Journal of Pathology. Sep, 2017 | Pubmed ID: 28608987 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 Whole Exome Sequencing in the Differential Diagnosis of Diamond-Blackfan Anemia: Clinical and Molecular Study of Three Patients with Novel RPL5 and Mosaic RPS19 Mutations Blood Cells, Molecules & Diseases. May, 2017 | Pubmed ID: 28376382 MCM5: a New Actor in the Link Between DNA Replication and Meier-Gorlin Syndrome European Journal of Human Genetics : EJHG. May, 2017 | Pubmed ID: 28198391 Inherited Human IRAK-1 Deficiency Selectively Impairs TLR Signaling in Fibroblasts Proceedings of the National Academy of Sciences of the United States of America. Jan, 2017 | Pubmed ID: 28069966 Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome Human Mutation. Mar, 2017 | Pubmed ID: 27805744 Molecular Characterization of Paediatric Glioneuronal Tumours with Neuropil-like Islands: a Genome-wide Copy Number Analysis American Journal of Cancer Research. 2016 | Pubmed ID: 28042510 A Data Fusion Approach to Enhance Association Study in Epilepsy PloS One. 2016 | Pubmed ID: 27984588 Formation of New Chromatin Domains Determines Pathogenicity of Genomic Duplications Nature. Oct, 2016 | Pubmed ID: 27706140 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 Chromosome 17q21.31 Duplication Syndrome: Description of a New Familiar Case and Further Delineation of the Clinical Spectrum European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society. Jan, 2016 | Pubmed ID: 26565673 The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children Journal of Child Neurology. May, 2016 | Pubmed ID: 26511719 Reply to Sajantila and Budowle European Journal of Human Genetics : EJHG. Mar, 2016 | Pubmed ID: 25585701 Comprehensive Characterization of Mesenchymal Stromal Cells from Patients with Fanconi Anaemia British Journal of Haematology. Sep, 2015 | Pubmed ID: 26010568 Next Generation Sequencing for Systematic Assessment of Genetics of Small-vessel Disease and Lacunar Stroke Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association. Apr, 2015 | Pubmed ID: 25727672 A Novel Mutation in COL4A1 Gene: a Possible Cause of Early Postnatal Cerebrovascular Events American Journal of Medical Genetics. Part A. Apr, 2015 | Pubmed ID: 25706114 Primary Coenzyme Q10 Deficiency Presenting As Fatal Neonatal Multiorgan Failure European Journal of Human Genetics : EJHG. Sep, 2015 | Pubmed ID: 25564041 Further Delineation of the KAT6B Molecular and Phenotypic Spectrum European Journal of Human Genetics : EJHG. Sep, 2015 | Pubmed ID: 25424711 Testis Development in the Absence of SRY: Chromosomal Rearrangements at SOX9 and SOX3 European Journal of Human Genetics : EJHG. Aug, 2015 | Pubmed ID: 25351776 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 APC Rearrangements in Familial Adenomatous Polyposis: Heterogeneity of Deletion Lengths and Breakpoint Sequences Underlies Similar Phenotypes Familial Cancer. Mar, 2015 | Pubmed ID: 25159889 Improving Molecular Diagnosis in Epilepsy by a Dedicated High-throughput Sequencing Platform European Journal of Human Genetics : EJHG. Mar, 2015 | Pubmed ID: 24848745 A Therapeutic Challenge: Liddle's Syndrome Managed with Amiloride During Pregnancy Case Reports in Obstetrics and Gynecology. 2014 | Pubmed ID: 25210634 A Newborn with Ambiguous Genitalia and a Complex X;Y Rearrangement Iranian Journal of Reproductive Medicine. May, 2014 | Pubmed ID: 25031580 Severe Growth Hormone Deficiency and Pituitary Malformation in a Patient with Chromosome 2p25 Duplication and 2q37 Deletion Molecular Cytogenetics. 2014 | Pubmed ID: 24963351 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 Lower Motor Neuron Disease with Respiratory Failure Caused by a Novel MAPT Mutation Neurology. Jun, 2014 | Pubmed ID: 24808015 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 Proximal 10q Duplication in a Child with Severe Central Hypotonia Characterized by Array-comparative Genomic Hybridization: A Case Report and Review of the Literature Experimental and Therapeutic Medicine. Apr, 2014 | Pubmed ID: 24669257 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 PRKACB and Carney Complex The New England Journal of Medicine. Mar, 2014 | Pubmed ID: 24571725 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 Deletions of the PRKAR1A Locus at 17q24.2-q24.3 in Carney Complex: Genotype-phenotype Correlations and Implications for Genetic Testing The Journal of Clinical Endocrinology and Metabolism. Jan, 2014 | Pubmed ID: 24170103 Recommendations for Reporting Results of Diagnostic Genetic Testing (biochemical, Cytogenetic and Molecular Genetic) European Journal of Human Genetics : EJHG. Feb, 2014 | Pubmed ID: 23942201 Prenatal Diagnosis of Two De Novo 4q35-qter Deletions Characterized by Array-CGH Molecular Cytogenetics. Oct, 2013 | Pubmed ID: 24176130 Dravet Phenotype in a Subject with a Der(4)t(4;8)(p16.3;p23.3) Without the Involvement of the LETM1 Gene European Journal of Medical Genetics. Oct, 2013 | Pubmed ID: 23999105 Idiopathic Central Precocious Puberty Associated with 11 mb De Novo Distal Deletion of the Chromosome 9 Short Arm Case Reports in Genetics. 2013 | Pubmed ID: 23984122 A De Novo X;8 Translocation Creates a PTK2-THOC2 Gene Fusion with THOC2 Expression Knockdown in a Patient with Psychomotor Retardation and Congenital Cerebellar Hypoplasia Journal of Medical Genetics. Aug, 2013 | Pubmed ID: 23749989 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 De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of Inv Dup(15)s PloS One. 2012 | Pubmed ID: 22720067 The Introduction of Arrays in Prenatal Diagnosis: a Special Challenge Human Mutation. Jun, 2012 | Pubmed ID: 22508381 19q13.11 Cryptic Deletion: Description of Two New Cases and Indication for a Role of WTIP Haploinsufficiency in Hypospadias European Journal of Human Genetics : EJHG. Aug, 2012 | Pubmed ID: 22378287 Haploinsufficiency of COQ4 Causes Coenzyme Q10 Deficiency Journal of Medical Genetics. Mar, 2012 | Pubmed ID: 22368301 Unexpected Results in the Constitution of Small Supernumerary Marker Chromosomes European Journal of Medical Genetics. Mar, 2012 | Pubmed ID: 22342433 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 Correlation Between Genomic Alterations Assessed by Array Comparative Genomic Hybridization, Prognostically Informative Histologic Subtype, Stage, and Patient Survival in Gastric Cancer Human Pathology. Dec, 2011 | Pubmed ID: 21676433 XX Males SRY Negative: a Confirmed Cause of Infertility Journal of Medical Genetics. Oct, 2011 | Pubmed ID: 21653197 The Phenotype of Recurrent 10q22q23 Deletions and Duplications European Journal of Human Genetics : EJHG. Apr, 2011 | Pubmed ID: 21248748 Array Technology in Prenatal Diagnosis Seminars in Fetal & Neonatal Medicine. Apr, 2011 | Pubmed ID: 21208835 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 Inverted Duplications Deletions: Underdiagnosed Rearrangements?? Clinical Genetics. Jun, 2009 | Pubmed ID: 19508415 Subtelomeric FISH Analysis in 76 Patients with Syndromic Developmental Delay/intellectual Disability Italian Journal of Pediatrics. Apr, 2009 | Pubmed ID: 19490664 Presence of 1q Gain and Absence of 7p Gain Are New Predictors of Local or Metastatic Relapse in Localized Resectable Neuroblastoma Neuro-oncology. Apr, 2009 | Pubmed ID: 18923191 Highly Conserved Non-coding Sequences and the 18q Critical Region for Short Stature: a Common Mechanism of Disease? PloS One. Jan, 2008 | Pubmed ID: 18213369 Deletion of PTEN and BMPR1A on Chromosome 10q23 is Not Always Associated with Juvenile Polyposis of Infancy American Journal of Human Genetics. Sep, 2006 | Pubmed ID: 16909400 Loss-of-function Mutation of the AF9/MLLT3 Gene in a Girl with Neuromotor Development Delay, Cerebellar Ataxia, and Epilepsy Human Genetics. Oct, 2005 | Pubmed ID: 16001262 Inverted Duplications: How Many of Them Are Mosaic? European Journal of Human Genetics : EJHG. Sep, 2004 | Pubmed ID: 15266302 Reciprocal Translocation Associated with Multiple Exostoses in Seven Members of a Three Generation Family and Discovered Through an Infertile Male American Journal of Medical Genetics. Part A. Nov, 2003 | Pubmed ID: 14556251 脳奇形の原因となる遺伝子を識別するアレイ CGH、全エキソーム配列と齧歯動物の子宮にエレクトロポレーションを組み合わせた新たな戦略 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
脳奇形の原因となる遺伝子を識別するアレイ CGH、全エキソーム配列と齧歯動物の子宮にエレクトロポレーションを組み合わせた新たな戦略 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
