Orsetta Zuffardi

Orsetta Zuffardi

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Orsetta Zuffardi

Publications by authors named "Orsetta Zuffardi"

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Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndrome.

Eur J Paediatr Neurol 2018 Mar 31;22(2):336-339. Epub 2018 Jan 31.

Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.01.007DOI Listing
March 2018

Three Reportedly Unrelated Families With Liddle Syndrome Inherited From a Common Ancestor.

Hypertension 2018 02 11;71(2):273-279. Epub 2017 Dec 11.

From the Department of Biology (L.P.) and Endocrinology Unit, Department of Medicine (F.M.), University of Padova, Italy; Estonian Biocentre, Tartu (L.P.); Research Department of Genetics, Evolution and Environment, University College London, United Kingdom (Y.D., M.G.T.); Department of Biological Geological and Environmental Sciences (M.S., S.D.F., D.L.) and Department of Experimental, Diagnostic and Specialty Medicine (P.G.), University of Bologna, Italy; IRCCS Centro Cardiologico Monzino, Milano, Italy (M.R.); Department of Oncology and Advanced Technologies, Laboratory of Molecular Biology (E.F., B.C.) and Department of Internal Medicine (E.R.), IRCCS Santa Maria Nuova Hospital, Reggio Emilia, Italy; Department of Endocrinology and Metabolic Diseases, San Raffaele Scientific Institute, Milano, Italy (A.C.); and Department of Molecular Medicine, University of Pavia, Italy (F.N., O.Z.).

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http://dx.doi.org/10.1161/HYPERTENSIONAHA.117.10491DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5767121PMC
February 2018

Developmental trends of communicative skills in children with chromosome 14 aberrations.

Eur J Pediatr 2017 Apr 25;176(4):455-464. Epub 2017 Jan 25.

Dipartimento Medicina Molecolare, Università degli Studi di Pavia, Via Forlanini 6, 27100, Pavia, Italy.

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http://dx.doi.org/10.1007/s00431-017-2859-2DOI Listing
April 2017

Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.

Hum Mutat 2017 03 5;38(3):260-264. Epub 2017 Jan 5.

Department of Internal Medicine and Rotterdam Thyroid Center, Erasmus University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.23140DOI Listing
March 2017

Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis.

Am J Cancer Res 2016 1;6(12):2910-2918. Epub 2016 Dec 1.

Medical Genetics Unit, Meyer Children's University HospitalViale Pieraccini 2450139, Florence, Italy; Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences "Mario Serio", University of FlorenceViale Morgagni 5050134, Florence, Italy (S.G.).

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5199764PMC
December 2016

A Revised Genome Assembly of the Region 5' to Canine SOX9 Includes the RevSex Orthologous Region.

Sex Dev 2015 16;9(3):155-61. Epub 2015 Jul 16.

Department of Molecular Medicine, Pavia University, Pavia, Italy.

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http://dx.doi.org/10.1159/000435871DOI Listing
July 2016

Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrum.

Eur J Paediatr Neurol 2016 Jan 22;20(1):183-7. Epub 2015 Oct 22.

UO Neurologia dello Sviluppo, Dipartimento di Neuroscienze Pediatriche, IRCCS Fondazione Istituto Neurologico "Carlo Besta", Via Celoria 11, Milan, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2015.09.010DOI Listing
January 2016

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

Am J Med Genet A 2015 Apr 23;167A(4):810-5. Epub 2015 Feb 23.

Child Neurology and Psychiatry Unit, Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36907DOI Listing
April 2015

Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke.

J Stroke Cerebrovasc Dis 2015 Apr 26;24(4):759-65. Epub 2015 Feb 26.

Cerebrovascular Unit, IRCCS Foundation Neurological Institute 'C.Besta', Milan, Italy.

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http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2014.10.019DOI Listing
April 2015

Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings.

Acta Diabetol 2015 Feb 5;52(1):175-8. Epub 2014 Nov 5.

Diabetes Endocrine and Metabolic Diseases Unit, IRCCS MultiMedica, 20099, Sesto San Giovanni, Milan, Italy,

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http://dx.doi.org/10.1007/s00592-014-0648-1DOI Listing
February 2015

Periventricular nodular heterotopia in Smith-Magenis syndrome.

Am J Med Genet A 2014 Dec 24;164A(12):3142-7. Epub 2014 Sep 24.

Neurosurgery Unit, Istituto Giannina Gaslini, 16147 Genova, Genoa, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36742DOI Listing
December 2014

Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes.

Am J Med Genet A 2014 Dec 24;164A(12):3154-61. Epub 2014 Sep 24.

Developmental Neurology Division, Carlo Besta Neurological Institute, I.R.C.C.S. Foundation, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36746DOI Listing
December 2014

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

Case Rep Obstet Gynecol 2014 25;2014:156250. Epub 2014 Aug 25.

Diabetes and Endocrine Unit, Cardiovascular and Metabolic Department, IRCCS Multimedica, Via Milanese 300, 20099 Sesto San Giovanni, Italy.

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http://dx.doi.org/10.1155/2014/156250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4158429PMC
September 2014

Hyper IgE syndrome: anaphylaxis in a patient carrying the N567D STAT3 mutation.

Pediatr Allergy Immunol 2014 Aug 16;25(5):503-5. Epub 2014 Mar 16.

Department of Clinical-surgical, Diagnostic and Pediatric Sciences, University of Pavia, Pavia, Italy; Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.

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http://dx.doi.org/10.1111/pai.12217DOI Listing
August 2014

Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation.

Neurology 2014 Jun 7;82(22):1990-8. Epub 2014 May 7.

From the Dino Ferrari Center (A.D.F., D.R., I.T., M.R., A.B., F.F., S.S., S.C., N.B., G.P.C.), Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan; Department of Medical Biotechnology and Translational Medicine (F.G., E.N.-O.), 2nd Neurology, Humanitas Clinical and Research Center, Rozzano, Milan; Division of Pathology (F.M.C., S.B.), Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico and Department of Pathophysiology and Transplantation, University of Milan; Departments of Molecular Medicine (A.V., E.D.M., O.Z.), Industrial and Information Engineering (R.B.), and Public Health, Neuroscience, Experimental and Forensic Medicine (M.C.), University of Pavia; Departments of Neurological Emergency (I.L., G. Micieli, O.Z.) and General Neurology (I.R., M.C.), IRCCS C. Mondino National Neurological Institute, Pavia, Italy; Mitochondrial Research Group (E.F.), Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK; and Department of Neurorehabilitation (G. Mora), IRCCS Salvatore Maugeri Foundation, Milan, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000000476DOI Listing
June 2014

Genome-wide copy number analysis in pediatric glioblastoma multiforme.

Am J Cancer Res 2014 26;4(3):293-303. Epub 2014 May 26.

Medical Genetics Unit, Meyer Children's University Hospital Florence, Italy ; Department of Clinical and Experimental Biomedical Sciences "Mario Serio", University of Florence Florence, Italy ; FiorGen Foundation for Pharmacogenomics Sesto Fiorentino, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065410PMC
June 2014

Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion.

Mol Cytogenet 2014 19;7:41. Epub 2014 Jun 19.

Department of Internal Medicine and Therapeutics, Pediatric and Adolescent Unit, University of Pavia, Fondazione IRCCS San Matteo, Pavia, Italy.

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http://dx.doi.org/10.1186/1755-8166-7-41DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4068070PMC
June 2014

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Hum Mol Genet 2014 May 30;23(10):2752-68. Epub 2013 Dec 30.

The Centre for Applied Genomics.

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http://dx.doi.org/10.1093/hmg/ddt669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990173PMC
May 2014

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

Iran J Reprod Med 2014 May;12(5):351-6

Department of Molecular Medicine, University of Pavia, Pavia, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4094661PMC
May 2014

PRKACB and Carney complex.

N Engl J Med 2014 Mar 26;370(11):1065-7. Epub 2014 Feb 26.

University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1056/NEJMc1309730DOI Listing
March 2014

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

Eur J Hum Genet 2014 Feb 14;22(2):160-70. Epub 2013 Aug 14.

National Centre for Medical Genetics, School of Medicine & Medical Sciences, University College Dublin, Our Lady's Children's Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1038/ejhg.2013.125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895644PMC
February 2014

Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing.

J Clin Endocrinol Metab 2014 Jan 20;99(1):E183-8. Epub 2013 Dec 20.

Section on Endocrinology and Genetics (P.S., E.L., F.R.F., I.L., E.G., M.F.K., C.L., C.A.S.), Program on Developmental Endocrinology and Genetics and Pediatric Endocrinology Inter-institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892; Department of Biochemistry and Molecular Medicine (A.H.), The George Washington University, Washington, D.C. 20037; Department of Molecular Medicine (A.V., A.F., O.Z.), University of Pavia, Pavia 27100, Italy; Division of Genetics and Endocrinology (A.D., I.A.H.), Boston Children's Hospital, Boston, Massachusetts; Regional Medical Genetics Center (P.J.M.), Queens University Belfast, Belfast BT9 7AB, United Kingdom; and Quest Diagnostics Nichols Institute (E.D.S., M.A.S., J.C.K., Z.D., P.M.), Chantilly, Virginia 20151.

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http://dx.doi.org/10.1210/jc.2013-3159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3879675PMC
January 2014

5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.

Eur J Med Genet 2013 Jan 18;56(1):54-8. Epub 2012 Oct 18.

Department of Molecular Medicine, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2012.10.002DOI Listing
January 2013

22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature.

Epilepsy Behav 2012 Dec 13;25(4):567-72. Epub 2012 Nov 13.

Epilepsy, Neurophysiology and Neurogenetics Unit, IRCCS Stella Maris Foundation, Via dei Giacinti 2, 56128 Calambrone, Pisa, Italy.

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http://dx.doi.org/10.1016/j.yebeh.2012.09.035DOI Listing
December 2012

Cognitive and behavioral phenotype of a young man with a chromosome 13 deletion del(13)(q21.32q31.1).

Cogn Behav Neurol 2012 Sep;25(3):154-8

Instituto de Neurociencias, CUCBA, Departamento de Estudios de Educación, CUCSH, Universidad de Guadalajara, Guadalajara, Mexico.

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http://dx.doi.org/10.1097/WNN.0b013e31826dfd3cDOI Listing
September 2012

Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion.

Am J Med Genet A 2012 Jul 7;158A(7):1793-7. Epub 2012 Jun 7.

Child Neurology Unit, Children's Hospital A. Meyer-University of Florence, Florence, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35416DOI Listing
July 2012

Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation.

Eur J Med Genet 2012 Apr 18;55(4):238-44. Epub 2012 Feb 18.

U.O. Pediatria e TIN Dipartimento Materno-Infantile, Università degli Studi di Palermo via Alfonso Giordano 3, 90127 Palermo, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2012.01.014DOI Listing
April 2012

Common structural features characterize interstitial intrachromosomal Xp and 18q triplications.

Am J Med Genet A 2011 Nov 30;155A(11):2681-7. Epub 2011 Sep 30.

Istituto Scientifico E. Medea, Bosisio Parini (LC), Italy.

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http://dx.doi.org/10.1002/ajmg.a.34248DOI Listing
November 2011

Gene copy number variation in male breast cancer by aCGH.

Cell Oncol (Dordr) 2011 Oct 6;34(5):467-73. Epub 2011 May 6.

Clinical Experimental Oncology Laboratory, National Cancer Centre of Bari, viale Orazio Flacco 65, 70124 Bari, Italy.

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http://dx.doi.org/10.1007/s13402-011-0041-9DOI Listing
October 2011

XX males SRY negative: a confirmed cause of infertility.

J Med Genet 2011 Oct 7;48(10):710-2. Epub 2011 Jun 7.

Medical Genetics, University of Pavia, via Forlanini 14, 27100 Pavia, Italy.

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http://dx.doi.org/10.1136/jmedgenet-2011-100036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3178810PMC
October 2011

CD5(-) diffuse large B-cell lymphoma with peculiar cyclin D1+ phenotype. Pathologic and molecular characterization of a single case.

Hum Pathol 2011 Aug 21;42(8):1204-8. Epub 2011 Feb 21.

Anatomic Pathology, Foundation IRCCS Policlinico San Matteo and University of Pavia, 27100 Pavia, Italy.

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http://dx.doi.org/10.1016/j.humpath.2010.11.015DOI Listing
August 2011

Identification of novel prognostic markers in relapsing localized resectable neuroblastoma.

OMICS 2011 Mar 14;15(3):113-21. Epub 2011 Feb 14.

Laboratory of Oncology, IRCCS G.Gaslini Hospital, Genova, Italy.

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http://dx.doi.org/10.1089/omi.2010.0085DOI Listing
March 2011

Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era?

Prenat Diagn 2011 Mar 10;31(3):235-43. Epub 2011 Feb 10.

The Karolinska Institute, Center For Molecular Medicine & Surgery, Karolinska University Hospital, Stockholm, Sweden.

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http://doi.wiley.com/10.1002/pd.2722
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http://dx.doi.org/10.1002/pd.2722DOI Listing
March 2011