Orsetta Zuffardi

Orsetta Zuffardi

University of Pavia

Affiliated withUniversity of PaviaIRCCS Casimiro Mondino Foundation

Research Area

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JoVE Journal Publications

ArticleTotal : 1
Year
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Publication title
2017

Other Publications

Article
Year
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| PubMed ID: 14556251

2003
Inverted duplications: how many of them are mosaic?

European journal of human genetics : EJHG| PubMed ID: 15266302

2004
2005
2006
2008
2009
2009
2009
2009
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.

European journal of human genetics : EJHG| PubMed ID: 19809484

2010
2010
Array technology in prenatal diagnosis.

Seminars in fetal & neonatal medicine| PubMed ID: 21208835

2011
The phenotype of recurrent 10q22q23 deletions and duplications.

European journal of human genetics : EJHG| PubMed ID: 21248748

2011
XX males SRY negative: a confirmed cause of infertility.

Journal of medical genetics| PubMed ID: 21653197

2011
2011
2011
2011
Unexpected results in the constitution of small supernumerary marker chromosomes.

European journal of medical genetics| PubMed ID: 22342433

2012
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

Journal of medical genetics| PubMed ID: 22368301

2012
2012
2012
2012
2013
2013
MEF2C deletions and mutations versus duplications: a clinical comparison.

European journal of medical genetics| PubMed ID: 23402836

2013
2013
2014
2013
2013
2014
2013
2014
2014
PRKACB and Carney complex.

The New England journal of medicine| PubMed ID: 24571725

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
2014
2014
2014
2014
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.

European journal of human genetics : EJHG| PubMed ID: 24848745

2015
Genome-wide copy number analysis in pediatric glioblastoma multiforme.

American journal of cancer research| PubMed ID: 24959384

2014
2014
A newborn with ambiguous genitalia and a complex X;Y rearrangement.

Iranian journal of reproductive medicine| PubMed ID: 25031580

2014
2015
A Therapeutic Challenge: Liddle's Syndrome Managed with Amiloride during Pregnancy.

Case reports in obstetrics and gynecology| PubMed ID: 25210634

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
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

European journal of human genetics : EJHG| PubMed ID: 25351776

2015
Further delineation of the KAT6B molecular and phenotypic spectrum.

European journal of human genetics : EJHG| PubMed ID: 25424711

2015
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.

European journal of human genetics : EJHG| PubMed ID: 25564041

2015
Reply to Sajantila and Budowle.

European journal of human genetics : EJHG| PubMed ID: 25585701

2016
A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events.

American journal of medical genetics. Part A| PubMed ID: 25706114

2015
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| PubMed ID: 25727672

2015
2015
2016
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| PubMed ID: 26565673

2016
2016
2016
2017
2016
2016
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts.

Proceedings of the National Academy of Sciences of the United States of America| PubMed ID: 28069966

2017
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.

European journal of human genetics : EJHG| PubMed ID: 28198391

2017
2017
2017
2017
2017
2017
2017