Francesca Novara

University of Pavia

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title	2017

Other Publications

Article	Year
A Therapeutic Challenge: Liddle's Syndrome Managed with Amiloride during Pregnancy. Case reports in obstetrics and gynecology\| PubMed ID: 25210634	2014
High-resolution genome-wide array comparative genomic hybridization in splenic marginal zone B-cell lymphoma. Human pathology\| PubMed ID: 19647853	2009
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. European journal of human genetics : EJHG\| PubMed ID: 19809484	2010
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. American journal of human genetics\| PubMed ID: 20362274	2010
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. PLoS genetics\| PubMed ID: 21779178	2011
Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm: focus on biallelic locus 9p21.3 deletion. Blood\| PubMed ID: 21900200	2011
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features. Journal of child neurology\| PubMed ID: 22805248	2013
5p13 microduplication syndrome: a new case and better clinical definition of the syndrome. European journal of medical genetics\| PubMed ID: 23085304	2013
MEF2C deletions and mutations versus duplications: a clinical comparison. European journal of medical genetics\| PubMed ID: 23402836	2013
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\| PubMed ID: 24381304	2014
MECP2 duplication phenotype in symptomatic females: report of three further cases. Molecular cytogenetics\| PubMed ID: 24472397	2014
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\| PubMed ID: 24628715	2014
In vitro biosafety profile evaluation of multipotent mesenchymal stem cells derived from the bone marrow of sarcoma patients. Journal of translational medicine\| PubMed ID: 24716831	2014
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion. American journal of medical genetics. Part A\| PubMed ID: 24819041	2014
Genome-wide copy number analysis in pediatric glioblastoma multiforme. American journal of cancer research\| PubMed ID: 24959384	2014
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\| PubMed ID: 25232846	2015
Comprehensive characterization of mesenchymal stromal cells from patients with Fanconi anaemia. British journal of haematology\| PubMed ID: 26010568	2015
Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature. Molecular cytogenetics\| PubMed ID: 27625702	2016
Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome. Human mutation\| PubMed ID: 27805744	2017
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force. Orphanet journal of rare diseases\| PubMed ID: 28399932	2017
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. European journal of human genetics : EJHG\| PubMed ID: 28422132	2017