Federica Sangiuolo

Federica Sangiuolo

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Federica Sangiuolo

Federica Sangiuolo

Publications by authors named "Federica Sangiuolo"

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Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.

Clin Chim Acta 2020 Feb 12;501:154-164. Epub 2019 Nov 12.

Medical Genetics Unit, Tor Vergata Hospital, Rome, Italy; Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy; Marfan Syndrome Study Group, Tor Vergata Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.cca.2019.10.037DOI Listing
February 2020

Periodontal condition in growing subjects with Marfan Syndrome: a case-control study.

PeerJ 2019 23;7:e6606. Epub 2019 Apr 23.

Department of Clinical Sciences and Translational Medicine, University of Roma "Tor Vergata", Roma, Italia.

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http://dx.doi.org/10.7717/peerj.6606DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6485202PMC
April 2019

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.

Eur J Hum Genet 2018 09 11;26(9):1266-1271. Epub 2018 Jun 11.

Division of Nephrology, Department of Internal Medicine, University of Michigan School of Medicine, Ann Arbor, Michigan, USA.

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http://dx.doi.org/10.1038/s41431-018-0183-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117343PMC
September 2018

The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female.

Gynecol Endocrinol 2017 Dec 13;33(12):918-922. Epub 2017 Jun 13.

g Department of Life, Health and Environmental Sciences , University of L'Aquila , L'Aquila , Italy.

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http://dx.doi.org/10.1080/09513590.2017.1337097DOI Listing
December 2017

Targeted Next Generation Sequencing in patients with Myotonia Congenita.

Clin Chim Acta 2017 Jul 17;470:1-7. Epub 2017 Apr 17.

Dept of Biomedicine and Prevention, Tor Vergata University, via Montpellier, 1, 00133 Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.04.012DOI Listing
July 2017

Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia.

Muscle Nerve 2017 06 26;55(6):E24-E25. Epub 2017 Mar 26.

Department of Biomedicine and Prevention, University Tor Vergata Rome, Italy.

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http://dx.doi.org/10.1002/mus.25407DOI Listing
June 2017

SMA Human iPSC-Derived Motor Neurons Show Perturbed Differentiation and Reduced miR-335-5p Expression.

Int J Mol Sci 2016 Jul 30;17(8). Epub 2016 Jul 30.

Department of Biomedicine and Prevention, University of Rome Tor Vergata, Via Montpellier, 1, 00133 Rome, Italy.

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http://dx.doi.org/10.3390/ijms17081231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5000629PMC
July 2016

Pharmacogenomics of multifactorial diseases: a focus on psoriatic arthritis.

Pharmacogenomics 2016 06 7;17(8):943-51. Epub 2016 Jun 7.

Department of Biomedicine & Prevention, School of Medicine, University of Rome "Tor Vergata", via Montpellier 1, 00133 Rome, Italy.

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http://dx.doi.org/10.2217/pgs.16.20DOI Listing
June 2016

Human induced pluripotent stem cells for monogenic disease modelling and therapy.

World J Stem Cells 2016 Apr;8(4):118-35

Paola Spitalieri, Valentina Rosa Talarico, Michela Murdocca, Giuseppe Novelli, Federica Sangiuolo, Department of Biomedicine and Prevention, Tor Vergata University, 00133 Rome, Italy.

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http://dx.doi.org/10.4252/wjsc.v8.i4.118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4835672PMC
April 2016

Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations.

Electrophoresis 2016 Mar 15;37(5-6):860-4. Epub 2016 Jan 15.

Department of Biomedicine and Prevention, School of Medicine, University of Rome "Tor Vergata,", Rome, Italy.

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http://dx.doi.org/10.1002/elps.201500346DOI Listing
March 2016

Reliable and versatile immortal muscle cell models from healthy and myotonic dystrophy type 1 primary human myoblasts.

Exp Cell Res 2016 Mar 19;342(1):39-51. Epub 2016 Feb 19.

Department of Biomedicine and Prevention, Tor Vergata University of Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.yexcr.2016.02.013DOI Listing
March 2016

Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism.

Fam Cancer 2016 Jan;15(1):123-6

Department of Biomedical Experimental and Clinical Sciences, Medical Genetics, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1007/s10689-015-9836-6DOI Listing
January 2016

FLG (filaggrin) null mutations and sunlight exposure: Evidence of a correlation.

J Am Acad Dermatol 2015 Sep;73(3):528-9

Department of Biomedicine and Prevention, School of Medicine, University of Rome "Tor Vergata", Rome, Italy; Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, Rome, Italy.

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http://dx.doi.org/10.1016/j.jaad.2015.06.022DOI Listing
September 2015

Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene.

Neuroradiol J 2015 Jun;28(3):289-93

Medical Genetics Unit, Policlinico Tor Vergata University Hospital, Italy Department of Medical, Oral and Biotechnological Sciences, Gabriele D'Annunzio University, Italy

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http://dx.doi.org/10.1177/1971400915591688DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4757286PMC
June 2015

Application of Next Generation Sequencing for personalized medicine for sudden cardiac death.

Front Genet 2015 2;6:55. Epub 2015 Mar 2.

Department of Biomedicine and Prevention, University of RomeTor Vergata Rome, Italy.

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http://dx.doi.org/10.3389/fgene.2015.00055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4345839PMC
March 2015

HFE gene variants and iron-induced oxygen radical generation in idiopathic pulmonary fibrosis.

Eur Respir J 2015 Feb 10;45(2):483-90. Epub 2014 Dec 10.

Dept of Biomedicine and Prevention, University of Roma Tor Vergata, Rome, Italy. Division of Respiratory Diseases, University Hospital Tor Vergata, Rome, Italy. Postgraduate School in Respiratory Diseases, University of Roma Tor Vergata, Rome, Italy.

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http://dx.doi.org/10.1183/09031936.00104814DOI Listing
February 2015

Transabdominal coelocentesis as early source of fetal DNA for chromosomal and molecular diagnosis.

J Matern Fetal Neonatal Med 2014 Nov 9;27(16):1656-60. Epub 2014 Apr 9.

Clinical Department of Surgery, Division of Gynecology and Prenatal Diagnosis, Tor Vergata University Hospital , Rome , Italy .

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http://dx.doi.org/10.3109/14767058.2013.871697DOI Listing
November 2014

Small Fragment Homologous Replacement (SFHR): sequence-specific modification of genomic DNA in eukaryotic cells by small DNA fragments.

Methods Mol Biol 2014 ;1114:85-101

Medical Genetics Section, Department of Biomedicine and Prevention, School of Medicine, Tor Vergata University, Rome, Italy.

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http://dx.doi.org/10.1007/978-1-62703-761-7_6DOI Listing
October 2014

Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes.

Acta Diabetol 2014 Aug 30;51(4):663-71. Epub 2014 Mar 30.

Genetics Section, Department of Biomedicine and Prevention, University of Rome ''Tor Vergata'', Via Montpellier 1, 00133, Rome, Italy,

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http://dx.doi.org/10.1007/s00592-014-0582-2DOI Listing
August 2014

3'-UTR OLR1/LOX-1 gene polymorphism and endothelial dysfunction: molecular and vascular data in never-treated hypertensive patients.

Intern Emerg Med 2014 Apr 29;9(3):273-81. Epub 2012 Sep 29.

Department of Medical and Surgical Sciences, University Magna Græcia of Catanzaro, V.le Europa, 88100, Catanzaro, Italy.

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http://dx.doi.org/10.1007/s11739-012-0857-yDOI Listing
April 2014

MicroRNA genetic variations: association with type 2 diabetes.

Acta Diabetol 2013 Dec 27;50(6):867-72. Epub 2013 Mar 27.

Department of Biomedicine and Prevention, Genetics Section, University of Rome "Tor Vergata", Via Montpellier 1, 00133, Rome, Italy.

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http://dx.doi.org/10.1007/s00592-013-0469-7DOI Listing
December 2013

TCF7L2 gene polymorphisms and type 2 diabetes: association with diabetic retinopathy and cardiovascular autonomic neuropathy.

Acta Diabetol 2013 Oct 28;50(5):789-99. Epub 2012 Jul 28.

Department of Biomedicine and Prevention, Section of Medical Genetics, School of Medicine, University of Rome "Tor Vergata", 00133, Rome, Italy,

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http://link.springer.com/10.1007/s00592-012-0418-x
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http://dx.doi.org/10.1007/s00592-012-0418-xDOI Listing
October 2013

Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita.

Pediatr Neurol 2010 May;42(5):365-8

Greenwood Genetic Center, Greenwood, South Carolina 29418, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2010.01.014DOI Listing
May 2010

A pilot beta-thalassaemia screening program in the Albanian population for a health planning program.

Acta Haematol 2009 29;121(4):234-8. Epub 2009 Jun 29.

U.O.C. Genetica Medica, Fondazione Policlinico Tor Vergata, Viale Oxford 81, Rome, Italy.

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http://dx.doi.org/10.1159/000226423DOI Listing
August 2009

Recessive congenital myotonia resulting from maternal isodisomy of chromosome 7: a case report.

Cases J 2009 Apr 29;2:7111. Epub 2009 Apr 29.

Department of Biopathology, Genetics Unit, Tor Vergata University of Rome, via Montpellier, 1, Rome 00133, Italy.

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http://dx.doi.org/10.1186/1757-1626-0002-0000007111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2827104PMC
April 2009

Diagnostic CFTR mutation analysis.

Expert Opin Med Diagn 2008 Feb;2(2):191-205

Tor Vergata University & AOU Policlinico Tor Vergata, Department of Biopathology, Via Montpellier, 1-00133 Rome, Italy +39 06 72596164 ; +39 06 20427313 ;

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http://dx.doi.org/10.1517/17530059.2.2.191DOI Listing
February 2008

Toward the pharmacogenomics of cystic fibrosis--an update.

Pharmacogenomics 2004 Oct;5(7):861-78

Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Roma, Italy.

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http://dx.doi.org/10.1517/14622416.5.7.861DOI Listing
October 2004

Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.

Hum Mutat 2004 Apr;23(4):396

Department of Biopathology, Human Genetics Unit, Tor Vergata University of Rome, Italy.

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http://dx.doi.org/10.1002/humu.9223DOI Listing
April 2004

Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies.

Cell Biochem Funct 2003 Sep;21(3):263-7

Dipartimento di Biopatologia e Diagnostica per Immagini, Università di Roma Tor Vergata, Rome, Italy.

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http://dx.doi.org/10.1002/cbf.1021DOI Listing
September 2003

Sequence-specific modification of genomic DNA by small DNA fragments.

J Clin Invest 2003 Sep;112(5):637-41

Department of Medicine, University of Vermont, Burlington, Vermont, USA.

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http://dx.doi.org/10.1172/JCI19773DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC182219PMC
September 2003

Towards the pharmacogenomics of cystic fibrosis.

Pharmacogenomics 2002 Jan;3(1):75-87

Dipartimento di Biopatologia e Diagnostica per Immagini, Università di Roma Tor Vergata, 00133 Roma, Italy.

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http://dx.doi.org/10.1517/14622416.3.1.75DOI Listing
January 2002