Annalisa Vetro

Annalisa Vetro

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Annalisa Vetro

Annalisa Vetro

Publications by authors named "Annalisa Vetro"

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48Publications

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Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.

Eur J Hum Genet 2019 Jun 25;27(6):909-918. Epub 2019 Jan 25.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1038/s41431-019-0335-3DOI Listing
June 2019

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

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

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

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

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

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

Array technology in prenatal diagnosis.

Semin Fetal Neonatal Med 2011 Apr 5;16(2):94-8. Epub 2011 Jan 5.

Genetica Medica, Università di Pavia, Pavia, Italy.

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http://dx.doi.org/10.1016/j.siny.2010.12.001DOI Listing
April 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

Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome?

Am J Med Genet A 2009 Feb;149A(4):737-41

Department of Pediatrics, University Hospital, Parma, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32773DOI Listing
February 2009

Expanding the phenotype of 22q13.3 deletion: report of a case detected prenatally.

Prenat Diagn 2008 Oct;28(10):978-80

Medical Genetics, Department of Medicine, Surgery and Dentistry, H. S. Paolo, University of Milan, Italy.

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http://dx.doi.org/10.1002/pd.2110DOI Listing
October 2008