Maria Iascone

Maria Iascone

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Maria Iascone

Maria Iascone

Publications by authors named "Maria Iascone"

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Heart transplantation in Danon disease: Long term single centre experience and review of the literature.

Eur J Med Genet 2020 Feb 5;63(2):103645. Epub 2019 Apr 5.

Department of Cardiothoracic Science, Azienda Sanitaria Universitaria Integrata and IRCAB Foundation, Udine, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2019.04.002DOI Listing
February 2020

ATP8A2-related disorders as recessive cerebellar ataxia.

J Neurol 2020 Jan 14;267(1):203-213. Epub 2019 Oct 14.

Laboratoire de Génétique de Maladies Rares EA7402, Institut Universitaire de Recherche Clinique, Université de Montpellier, CHU Montpellier, 640 av. Doyen G. Giraud CEDEX 5, 34295, Montpellier, France.

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http://dx.doi.org/10.1007/s00415-019-09579-4DOI Listing
January 2020

Severe Late-Onset Fabry Cardiomyopathy Unmasked by a Multimodality Imaging Approach.

Circ Cardiovasc Imaging 2019 Nov 21;12(11):e009709. Epub 2019 Oct 21.

Cardiology Department (I.-S.V., A.O.C., D.V., R.C.R.), University and Emergency Hospital, Bucharest, Romania.

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http://dx.doi.org/10.1161/CIRCIMAGING.119.009709DOI Listing
November 2019

Rare presentation and wide intrafamilial variability of Fabry disease: A case report and review of the literature.

Anatol J Cardiol 2019 Sep;22(3):154-158

Department of Cardiology, The Expert Center for Rare Genetic Cardiovascular Diseases, Euroecolab, Emergency Institute for Cardiovascular Diseases 'Prof. Dr. C.C. Iliescu'; Bucharest-Romania.

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http://dx.doi.org/10.14744/AnatolJCardiol.2019.47969DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6735429PMC
September 2019

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

Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing.

J Pediatr 2019 Aug 31;211:54-62.e4. Epub 2019 May 31.

Pediatric Hepatology, Gastroenterology and Transplantation, Hospital Papa Giovanni XXIII, Bergamo, Italy.

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http://dx.doi.org/10.1016/j.jpeds.2019.04.016DOI Listing
August 2019

Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review.

Prenat Diagn 2019 07 2;39(8):652-655. Epub 2019 Jul 2.

Prenatal Diagnosis Unit, Department of Obstetrics and Gynecology, ASST Spedali Civili, Brescia, Italy.

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http://dx.doi.org/10.1002/pd.5494DOI Listing
July 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 novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency.

Pediatr Allergy Immunol 2018 11 28;29(7):776-781. Epub 2018 Sep 28.

Department of Pathology, Institute for Molecular Medicine A. Nocivelli, Laboratory of Genetic Disorders of Childhood, University of Brescia, Brescia, Italy.

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http://doi.wiley.com/10.1111/pai.12968
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http://dx.doi.org/10.1111/pai.12968DOI Listing
November 2018

Mitral valve abnormalities in hypertrophic cardiomyopathy: a primary expression of the disease? Getting closer to the answer.

Eur Heart J Cardiovasc Imaging 2018 10;19(10):1107-1108

Hypertrophic Cardiomyopathy Center, Policlinico di Monza, Via Amati, 111, Monza, Italy.

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http://dx.doi.org/10.1093/ehjci/jey112DOI Listing
October 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

Neonatal Jaundice with Splenomegaly: Not a Common Pick.

Fetal Pediatr Pathol 2016 4;35(2):108-11. Epub 2016 Feb 4.

a Pediatric Department , Hospital Papa Giovanni XXIII , Bergamo , Italy.

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http://dx.doi.org/10.3109/15513815.2015.1130762DOI Listing
December 2016

Temporomandibular joint ankylosis as part of the clinical spectrum of Carey-Fineman-Ziter syndrome?

Am J Med Genet A 2016 08 27;170(8):2191-5. Epub 2016 May 27.

Department of Pediatric, Pediatric Genetic Unit, MBBM Foundation A.O.S. Gerardo, Monza, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37767DOI Listing
August 2016

Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasia.

Am J Med Genet A 2015 Apr 23;167A(4):842-51. Epub 2015 Feb 23.

Department of Molecular Medicine, Division of Medical Genetics, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36983DOI Listing
April 2015

Cavotricuspid isthmus ablation and subcutaneous monitoring device implantation in a 2-year-old baby with 2 SCN5A mutations, sinus node dysfunction, atrial flutter recurrences, and drug induced long-QT syndrome: a tricky case of pediatric overlap syndrome?

J Cardiovasc Electrophysiol 2015 Mar 30;26(3):346-9. Epub 2014 Nov 30.

Cardiac Electrophysiology and Pacing Unit, Cardiovascular Department, Azienda Ospedaliera Papa Giovanni XXIII, Bergamo, Italy.

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http://dx.doi.org/10.1111/jce.12570DOI Listing
March 2015

Endocardial fibroelastosis is caused by aberrant endothelial to mesenchymal transition.

Circ Res 2015 Feb 13;116(5):857-66. Epub 2015 Jan 13.

From the Department of Cardiology and Pneumology (X.X., F.A., E.M.Z.), Department of Nephrology and Rheumatology (B.T., M.Z.), University Medical Center of Göttingen, Georg-August University, Göttingen, Germany; Department of Cardiac Surgery, Boston Children's Hospital, Harvard Medical School, MA (I.F., I.V., P.J.d N.); Division of Matrix Biology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA (T.Z.H., R.K., E.M.Z.); Lab Genetica Molecolare, Papa Giovanni XXIII Hospital, Bergamo, Italy (M.I.); Department of Cancer Biology and the Metastasis Research Center, University of Texas MD Anderson Cancer Center, Houston (R.K.); and DZHK (German Centre for Cardiovascular Research), partner site Göttingen, Germany (E.M.Z.).

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http://dx.doi.org/10.1161/CIRCRESAHA.116.305629DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4344885PMC
February 2015

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

GAMES identifies and annotates mutations in next-generation sequencing projects.

Bioinformatics 2011 Jan 22;27(1):9-13. Epub 2010 Oct 22.

DAMA, Data Mining for Analysis of DNA, Department of Morphology and Embryology and TecnoPolo for Life Sciences, University of Ferrara, Ferrara, Italy.

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https://academic.oup.com/bioinformatics/article-lookup/doi/1
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http://dx.doi.org/10.1093/bioinformatics/btq603DOI Listing
January 2011

Novel human pathological mutations. Gene symbol: MYBPC3. Disease: cardiomyopathy, hypertrophic.

Hum Genet 2009 Aug;126(2):351

Genetica Molecolare, Ospedali Riuniti, Bergamo, Italy.

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August 2009

Novel human pathological mutations. Gene symbol: MYBPC3. Disease: cardiomyopathy, hypertrophic.

Hum Genet 2009 Aug;126(2):351

Genetica Molecolare, Ospedali Riuniti, Bergamo, Italy.

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August 2009

Gene symbol: LAMP2. Disease: Danon disease.

Hum Genet 2008 Jun;123(5):537

Ospedali Riuniti, Molecular Genetics Lab and Cardiovascular Department, Largo Barozzi, 2, 24128, Bergamo, Italy.

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June 2008

The Titan can help titin: from micro to macro myocardial elasticity.

J Cardiovasc Med (Hagerstown) 2006 Mar;7(3):153-8

Dipartimento Cardiovascolare Clinico e di Ricerca, Ospedali Riuniti, Bergamo, Italy.

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http://dx.doi.org/10.2459/01.JCM.0000215268.39896.55DOI Listing
March 2006

Molecular characterization of 22q11 deletion in a three-generation family with maternal transmission.

Am J Med Genet 2002 Apr;108(4):319-21

Molecular Genetics Laboratory, UO Anatomia Patologica, Ospedali Riuniti di Bergamo, Bergamo, Italy.

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April 2002