Laura Pezzoli

Laura Pezzoli

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Laura Pezzoli

Laura Pezzoli

Publications by authors named "Laura Pezzoli"

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13Publications

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Dual genetic diagnoses: neurofibromatosis type 1 and KBG syndrome.

Clin Dysmorphol 2019 Sep 17. Epub 2019 Sep 17.

Pediatric Department, ASST Lariana, Sant'Anna General Hospital, Como, Italy.

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http://dx.doi.org/10.1097/MCD.0000000000000296DOI Listing
September 2019

Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy.

Am J Med Genet A 2018 12 21;176(12):2867-2871. Epub 2018 Nov 21.

Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.

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http://dx.doi.org/10.1002/ajmg.a.40635DOI Listing
December 2018

A Child With Ichthyosis and Liver Failure.

J Pediatr Gastroenterol Nutr 2017 09;65(3):e70-e73

*Paediatric and Liver Unit, Meyer Children's University Hospital of Florence, Florence †Laboratory of Medical Genetics, Papa Giovanni XXIII Hospital, Bergamo ‡Department of Health Science, University of Florence, Florence §Molecular Medicine and Neurogenetics, IRCCS Stella Maris, Pisa ||Metabolic and Muscular Unit ¶Pathology Unit, Meyer Children's University Hospital of Florence, Florence, Italy.

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http://dx.doi.org/10.1097/MPG.0000000000001645DOI Listing
September 2017

Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study.

Circ Cardiovasc Genet 2014 Dec 30;7(6):741-50. Epub 2014 Aug 30.

From the Genetic Diagnostic Unit, Careggi University Hospital, Florence, Italy (F.G., S.B., M.B., G.M., C.P., F.T.); USSD Laboratorio Genetica Medica, Ospedali Riuniti, Bergamo, Italy (M.I., L.P., M.E.S.); Division of Cardiology, Department of Cardiological Thoracic and Vascular Sciences, University of Padua, Padua, Italy (C.B.); Azienda Ospedaliera Ospedale Niguarda Cà Granda, IV Division of Cardiology, Milan, Italy (N.M.); Division of Cardiology, Azienda Ospedaliera Universitaria di Parma, Parma, Italy (N.M.); Referral Center for Myocardial Diseases, Careggi University Hospital, Florence, Italy (B.T., A.F., I.O.); and Department of Clinical and Experimental Medicine (P.A.M.), University of Florence, Florence, Italy (F.C.).

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http://dx.doi.org/10.1161/CIRCGENETICS.113.000486DOI Listing
December 2014

Identification of a novel de novo deletion in RAF1 associated with biventricular hypertrophy in Noonan syndrome.

Am J Med Genet A 2014 Aug 29;164A(8):2069-73. Epub 2014 Apr 29.

USSD Laboratorio di Genetica Medica, Azienda Ospedaliera Papa Giovanni XXIII, Bergamo, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36588DOI Listing
August 2014

Extensive arterial tortuosity and severe aortic dilation in a newborn with an EFEMP2 mutation.

Circulation 2012 Dec;126(23):2764-8

Genetica Molecolare, USSD Laboratorio di Genetica Medica, Ospedali Riuniti, Largo Barozzi, 1, 24128 Bergamo, Italy.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.112.119883DOI Listing
December 2012

A new mutational mechanism for hypertrophic cardiomyopathy.

Gene 2012 Oct 20;507(2):165-9. Epub 2012 Jul 20.

USSD Laboratorio Genetica Medica, Ospedali Riuniti, Bergamo, Italy.

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http://dx.doi.org/10.1016/j.gene.2012.06.097DOI Listing
October 2012