Publications by authors named "Antonio Pizzuti"

100Publications

An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene.

Clin Case Rep 2020 Aug 2;8(8):1445-1451. Epub 2020 Jun 2.

Department of Biomedicine and Prevention University of Rome "Tor Vergata'' Italy.

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http://dx.doi.org/10.1002/ccr3.2881DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455403PMC
August 2020

Role of ductus venosus agenesis in right ventricle development.

J Matern Fetal Neonatal Med 2020 Aug 25:1-4. Epub 2020 Aug 25.

Department of Maternal and Child Health and Urological Sciences, Sapienza University of Rome, Policlinico Umberto I Hospital, Rome, Italy.

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http://dx.doi.org/10.1080/14767058.2020.1810231DOI Listing
August 2020

12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.

Am J Med Genet A 2020 Jul 6. Epub 2020 Jul 6.

Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers, France.

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http://dx.doi.org/10.1002/ajmg.a.61734DOI Listing
July 2020

Neonatal Marfan Syndrome by Inherited Mutation.

Indian J Pediatr 2020 Jun 17. Epub 2020 Jun 17.

Department of Pediatrics, Obstetrics and Gynecology, Policlinico Umberto I Hospital, Sapienza University of Rome, Viale Regina Elena, 324, 00161, Rome, Italy.

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http://dx.doi.org/10.1007/s12098-020-03411-yDOI Listing
June 2020

T399I Polymorphism and Endometriosis in a Cohort of Italian Women.

Diagnostics (Basel) 2020 Apr 27;10(5). Epub 2020 Apr 27.

Department of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I Hospital, 00161 Rome, Italy.

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http://dx.doi.org/10.3390/diagnostics10050255DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7277393PMC
April 2020

A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1.

Am J Med Genet A 2020 03 27;182(3):508-512. Epub 2019 Dec 27.

Medical Genetics Unit, Casa Sollievo della Sofferenza IRCCS Foundation, San Giovanni Rotondo, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61431DOI Listing
March 2020

Fetal tongue posture associated with micrognathia: An ultrasound marker of cleft secondary palate?

J Clin Ultrasound 2020 Jan 22;48(1):48-51. Epub 2019 Oct 22.

Department of Maternal and Child Health and Urological Sciences, "Sapienza" University of Rome, Rome, Italy.

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http://dx.doi.org/10.1002/jcu.22784DOI Listing
January 2020

Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease.

Neurodegener Dis 2019 2;19(2):96-100. Epub 2019 Oct 2.

Department of Experimental Medicine, Policlinico Umberto I Hospital, Sapienza University of Rome, Rome, Italy.

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http://dx.doi.org/10.1159/000502906DOI Listing
August 2020

Small 7p22.3 microdeletion: Case report of Snx8 haploinsufficiency and neurological findings.

Eur J Med Genet 2020 Apr 27;63(4):103772. Epub 2019 Sep 27.

Department of Experimental Medicine, Policlinico Umberto I Hospital, Sapienza University of Rome, Viale Regina Elena 324, Rome, Italy; Medical Genetics Unit, IRCCS Mendel Casa Sollievo della Sofferenza, San Giovanni Rotondo, FG, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103772DOI Listing
April 2020

Update in non-invasive prenatal testing.

Minerva Ginecol 2019 Feb 11;71(1):44-53. Epub 2018 Oct 11.

Department of Gynecological, Obstetrical, and Urological Sciences, Sapienza University, Rome, Italy.

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https://www.minervamedica.it/index2.php?show=R09Y9999N00A181
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http://dx.doi.org/10.23736/S0026-4784.18.04306-XDOI Listing
February 2019

Midtrimester isolated short femur and perinatal outcomes: A systematic review and meta-analysis.

Acta Obstet Gynecol Scand 2019 01 31;98(1):11-17. Epub 2018 Oct 31.

Department of Gynecological, Obstetrical and Urological Sciences, Sapienza University, Policlinico Umberto I Hospital, Rome, Italy.

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http://doi.wiley.com/10.1111/aogs.13470
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http://dx.doi.org/10.1111/aogs.13470DOI Listing
January 2019

Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients.

Arch Oral Biol 2017 Aug 5;80:160-163. Epub 2017 Apr 5.

Mendel Laboratory, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.archoralbio.2017.04.002DOI Listing
August 2017

Unusual association of SCN2A epileptic encephalopathy with severe cortical dysplasia detected by prenatal MRI.

Eur J Paediatr Neurol 2017 May 7;21(3):587-590. Epub 2017 Feb 7.

Department of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I Hospital, Viale Regina Elena 324, Rome, Italy; IRCCS Casa Sollievo della Sofferenza, Mendel-laboratory, San Giovanni Rotondo, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.01.014DOI Listing
May 2017

An update on the metabolic syndrome's epigenomic risk.

Minerva Endocrinol 2017 Dec 28;42(4):376-384. Epub 2016 Oct 28.

Department of Experimental Medicine, Faculty of Medicine and Dentistry, "La Sapienza" University of Rome, Rome, Italy.

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http://dx.doi.org/10.23736/S0391-1977.16.02573-6DOI Listing
December 2017

Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis.

J Matern Fetal Neonatal Med 2017 Sep 20;30(18):2225-2231. Epub 2016 Oct 20.

b Department of Experimental Medicine , "Sapienza" University of Rome, Policlinico Umberto I Hospital , and.

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http://dx.doi.org/10.1080/14767058.2016.1243099DOI Listing
September 2017

Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy.

Gene 2016 Feb 2;577(2):227-35. Epub 2015 Dec 2.

Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Circonvallazione Gianicolense, 87-00152 Rome, Italy.

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http://dx.doi.org/10.1016/j.gene.2015.11.048DOI Listing
February 2016

Prenatal diagnosis of proximal focal femoral deficiency: Literature review of prenatal sonographic findings.

J Clin Ultrasound 2016 May 26;44(4):252-9. Epub 2015 Sep 26.

Department of Obstetrics, Gynecology and Urologic Sciences, University of Rome "Sapienza", Umberto I Hospital, Rome, Italy.

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http://doi.wiley.com/10.1002/jcu.22306
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http://dx.doi.org/10.1002/jcu.22306DOI Listing
May 2016

The use of piezosurgery in cranial surgery in children.

J Craniofac Surg 2015 May;26(3):840-2

*Maxillo-Facial Surgery Unit †Neurosurgery Unit ‡Departments of Odontostomatology §Genetics ||Pediatrics and Pediatric Neuropsychiatry ¶Gynecology and Obstetrics, Policlinico Umberto I, "Sapienza" University of Rome #Genetics Unit, S. Camillo-Forlanini Hospital **Department of Radiology and Radiotherapy, Policlinico Umberto I, "Sapienza" University of Rome, Rome, Italy.

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https://insights.ovid.com/crossref?an=00001665-201505000-000
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http://dx.doi.org/10.1097/SCS.0000000000001574DOI Listing
May 2015

The emerging role of MicroRNA in schizophrenia.

CNS Neurol Disord Drug Targets 2015 ;14(2):208-21

Department of Experimental Medicine Sapienza University of Rome, Viale Regina Elena, 324, 00161 - Rome, Italy.

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http://dx.doi.org/10.2174/1871527314666150116124253DOI Listing
November 2015

Lack of association between serotonin transporter 5-HTT gene polymorphism and endometriosis in an Italian patient population.

J Negat Results Biomed 2014 Jun 12;13(1):12. Epub 2014 Jun 12.

Department of Experimental Medicine, Policlinico Umberto I, Sapienza University of Rome, Viale Regina Elena 324, 00161 Rome, Italy.

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http://dx.doi.org/10.1186/1477-5751-13-12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4066692PMC
June 2014

Immunogenetic investigation in vernal keratoconjunctivitis.

Pediatr Allergy Immunol 2014 Aug 5;25(5):508-10. Epub 2014 Jun 5.

Department of Pediatrics, 'Sapienza' University of Rome, Rome, Italy.

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http://dx.doi.org/10.1111/pai.12231DOI Listing
August 2014

Novel SMAD4 mutation causing Myhre syndrome.

Am J Med Genet A 2014 Jul 8;164A(7):1835-40. Epub 2014 Apr 8.

Dipartimento di Medicina Sperimentale, Sapienza Università di Roma, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36544DOI Listing
July 2014

Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.

Eur J Med Genet 2013 Oct 27;56(10):570-6. Epub 2013 Aug 27.

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

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http://dx.doi.org/10.1016/j.ejmg.2013.08.004DOI Listing
October 2013

From Nuremberg to bioethics: an educational project for students of dentistry and dental prosthesis.

Ann Stomatol (Roma) 2013 Jan 20;4(1):138-41. Epub 2013 Mar 20.

Department of Molecular Medicine, "Sapienza" University of Rome, Italy.

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http://dx.doi.org/10.11138/ads.0138DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3671810PMC
January 2013

Elevated levels of miR-145 correlate with SMAD3 down-regulation in cystic fibrosis patients.

J Cyst Fibros 2013 Dec 28;12(6):797-802. Epub 2013 Apr 28.

Department of Experimental Medicine, Sapienza University of Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jcf.2013.03.007DOI Listing
December 2013

HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing.

J Biomed Sci 2012 Oct 11;19:88. Epub 2012 Oct 11.

Department of Experimental Medicine, Sapienza University of Rome, Viale Regina Elena, 324 Rome, Italy.

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http://dx.doi.org/10.1186/1423-0127-19-88DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3482388PMC
October 2012

Clinical Significance of MicroRNA Expression Profiles and Polymorphisms in Lung Cancer Development and Management.

Patholog Res Int 2011 27;2011:780652. Epub 2011 Jul 27.

Department of Experimental Medicine, Sapienza University of Rome, Viale Regina Elena, 324-00161 Rome, Italy.

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http://dx.doi.org/10.4061/2011/780652DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3146996PMC
November 2011

Early ultrasound suspect of thanatophoric dysplasia followed by first trimester molecular diagnosis.

Am J Med Genet A 2011 Jul 10;155A(7):1756-8. Epub 2011 Jun 10.

Department of Obstetrics and Gynecology, Sapienza University, Policlinico Umberto I Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.34052DOI Listing
July 2011

Mitochondrial disfunction as a cause of ALS.

Arch Ital Biol 2011 Mar;149(1):113-9

Università di Roma "Sapienza" Dipartimento di Medicina Sperimentale, Istituto CSS-Mendel, Rome, Italy.

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http://dx.doi.org/10.4449/aib.v149i1.1266DOI Listing
March 2011

Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion.

Neurogenetics 2011 Aug 2;12(3):233-40. Epub 2011 Mar 2.

Department of Experimental Medicine, Sapienza University, Rome, Italy.

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http://dx.doi.org/10.1007/s10048-011-0278-5DOI Listing
August 2011

Genetic variants in adipose triglyceride lipase influence lipid levels in familial combined hyperlipidemia.

Atherosclerosis 2010 Nov 19;213(1):206-11. Epub 2010 Aug 19.

Department of Clinical and Medical Therapy, Unit of Atherosclerosis, University of Rome La Sapienza, Italy.

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http://dx.doi.org/10.1016/j.atherosclerosis.2010.08.055DOI Listing
November 2010

Quantification of small non-coding RNAs allows an accurate comparison of miRNA expression profiles.

J Biomed Biotechnol 2009 1;2009:659028. Epub 2009 Sep 1.

Gene Expression and Microarrays Laboratory, Bambino Gesú Children's Hospital, P. za S. Onofrio 4, 00165 Rome, Italy.

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http://dx.doi.org/10.1155/2009/659028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2735750PMC
November 2009

In vitro effect of PPAR-gamma2 Pro12Ala polymorphism on the deposition of Alzheimer's amyloid-beta peptides.

Brain Res 2007 Oct 9;1173:1-5. Epub 2007 Aug 9.

Department of Pathology, Albert Einstein College of Medicine, Bronx, New York, USA.

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http://dx.doi.org/10.1016/j.brainres.2007.07.065DOI Listing
October 2007

Clinical features and outcome of familial chronic lymphocytic leukemia.

Haematologica 2006 Aug;91(8):1117-20

Division of Hematology, Dipartimento di Biotecnologie Cellulari ed Ematologia, University La Sapienza, Via Benevento 6, 00161 Rome, Italy.

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August 2006

Association of the matrix metalloproteinase-3 (MMP-3) promoter polymorphism with celiac disease in male subjects.

Hum Immunol 2005 Jun 18;66(6):716-20. Epub 2005 Mar 18.

Department of Experimental Medicine and Pathology, University of Rome La Sapienza, Rome, Italy.

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http://dx.doi.org/10.1016/j.humimm.2005.02.005DOI Listing
June 2005

ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia.

Am J Med Genet A 2005 Feb;133A(1):68-70

CSS Hospital, IRCCS, San Giovanni Rotondo, Italy; CSS-Mendel Institute, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.30534DOI Listing
February 2005

Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor.

Parkinsonism Relat Disord 2004 Aug;10(6):357-62

Department of Neurosciences, Ophthalmology and Genetics, Section of Medical Genetics, University of Genoa c/o DIMI, Viale Benedetto XV 6, 16132 Genoa, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2004.04.012DOI Listing
August 2004

Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control study.

Am J Med Genet B Neuropsychiatr Genet 2004 Jul;128B(1):27-9

Department of Neuroscience, Ophthalmology and Genetics, Section of Medical Genetics, University of Genoa, c/o DIMI-Viale Benedetto XV 6, 16132 Genoa, Italy.

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http://dx.doi.org/10.1002/ajmg.b.30028DOI Listing
July 2004

LEOPARD syndrome: a new polyaneurysm association and an update on the molecular genetics of the disease.

J Vasc Surg 2004 Apr;39(4):897-900

Division of Vascular Surgery, Mayo Clinic and Mayo Foundation, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1016/j.jvs.2003.11.030DOI Listing
April 2004

A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype.

Hum Mutat 2004 Mar;23(3):286

Ospedale Casa Sollievo della Sofferenza and Istituto CSS-Mendel, Roma, Italy.

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http://doi.wiley.com/10.1002/humu.9220
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http://dx.doi.org/10.1002/humu.9220DOI Listing
March 2004

Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism.

Ann Neurol 2003 Mar;53(3):396-9

Dipartimento di Medicina Sperimentale e Patologia, Università di Roma La Sapienza and Ospedale Casa Sollievo della Sofferenza San Giovanni Rotondo IRCSS, Istituto Mendel, Rome, Italy.

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http://dx.doi.org/10.1002/ana.10492DOI Listing
March 2003

Leiomyosarcoma of the larynx: case report with pathologic and surgical considerations.

J Otolaryngol 2002 Dec;31(6):393-6

Department of Otolaryngology, Istitute "Casa Sollievo della Sofferenza, Mendel," University "La Sapienza," Rome, Italy.

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http://dx.doi.org/10.2310/7070.2002.34465DOI Listing
December 2002

A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient.

Invest Ophthalmol Vis Sci 2002 Dec;43(12):3609-12

Department of Experimental Medicine and Pathology, University of Rome La Sapienza, Italy.

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December 2002

Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11.

Hum Genet 2002 Oct 21;111(4-5):401-4. Epub 2002 Aug 21.

Department of Experimental Medicine and Pathology, University La Sapienza, Rome, Italy.

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http://dx.doi.org/10.1007/s00439-002-0785-4DOI Listing
October 2002

An ATG repeat in the 3'-untranslated region of the human resistin gene is associated with a decreased risk of insulin resistance.

J Clin Endocrinol Metab 2002 Sep;87(9):4403-6

Department of Experimental Medicine and Pathology, CSS-Mendel Institute, University La Sapienza, 00100 Rome, Italy.

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http://dx.doi.org/10.1210/jc.2002-020096DOI Listing
September 2002

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.

Am J Hum Genet 2002 Aug 7;71(2):389-94. Epub 2002 Jun 7.

Division of Medical Genetics, Bambino Gesù Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.

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http://dx.doi.org/10.1086/341528DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379170PMC
August 2002