Flavio Faletra

Flavio Faletra

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Flavio Faletra

Publications by authors named "Flavio Faletra"

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A next generation sequencing custom gene panel designed to distinguish isolated polydactyly from syndromic polydactyly during prenatal diagnosis.

Congenit Anom (Kyoto) 2019 Nov 5;59(6):197-198. Epub 2019 Mar 5.

MAGI Euregio, Research Division, Via Maso della Pieve, Bolzano, Italy.

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http://dx.doi.org/10.1111/cga.12328DOI Listing
November 2019

Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes.

Inflamm Res 2019 Nov 29;68(11):901-904. Epub 2019 Aug 29.

Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Via dell'Istria 65/1, 34137, Trieste, Italy.

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http://dx.doi.org/10.1007/s00011-019-01277-1DOI Listing
November 2019

Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency.

Immunol Lett 2019 Oct 20;214:52-54. Epub 2019 Aug 20.

Institute of Molecular Medicine "Angelo Nocivelli", University of Brescia; Viale Europa 11, 25123, Brescia, Italy; Asst Spedali Civili, Piazzale Spedali Civili 1, 25123, Brescia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.imlet.2019.08.003DOI Listing
October 2019

Epileptic encephalopathy with microcephaly in a patient with asparagine synthetase deficiency: a video-EEG report.

Epileptic Disord 2019 Oct;21(5):466-470

Institute for Maternal and Child Health - IRCCS "Burlo Garofolo" - Trieste.

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http://dx.doi.org/10.1684/epd.2019.1100DOI Listing
October 2019

Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss.

Hear Res 2019 Sep 13;381:107769. Epub 2019 Jul 13.

Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy; University of Trieste, Department of Medicine, Surgery and Health Sciences, Trieste, Italy.

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http://dx.doi.org/10.1016/j.heares.2019.07.006DOI Listing
September 2019

When fingers point to the diagnosis.

Arch Dis Child 2019 Aug 10. Epub 2019 Aug 10.

Genetics, Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.

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http://dx.doi.org/10.1136/archdischild-2019-317514DOI Listing
August 2019

Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?

Mol Genet Genomic Med 2019 05 28;7(5):e639. Epub 2019 Mar 28.

Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.

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http://dx.doi.org/10.1002/mgg3.639DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503064PMC
May 2019

The Challenge of Next Generation Sequencing in a Boy With Severe Mononucleosis and EBV-related Lymphoma.

J Pediatr Hematol Oncol 2018 07;40(5):e323-e326

Advanced Diagnostic and Clinical Trials, Institute for Maternal and Child Health, IRCCS Burlo Garofolo.

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http://dx.doi.org/10.1097/MPH.0000000000001004DOI Listing
July 2018

Afebrile seizures in infants: Never forget magnesium!

J Paediatr Child Health 2018 Apr 7;54(4):446-448. Epub 2018 Feb 7.

Institute for Maternal and Child Health, Burlo Garofolo Pediatric Institute, Trieste, Italy.

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http://dx.doi.org/10.1111/jpc.13854DOI Listing
April 2018

Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature.

Am J Med Genet A 2017 Jul 14;173(7):1970-1974. Epub 2017 Apr 14.

Department of Genetics, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38256DOI Listing
July 2017

A Case of Prenatal Neurocytoma Associated With ATR-16 Syndrome.

J Ultrasound Med 2016 Jun;35(6):1359-61

Department of Obstetrics and Gynecology, Institute for Maternal and Child Health, Istituto Di Ricovero e Cura a Carattere Scientifico Burlo Garofolo, Trieste, Italy.

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http://dx.doi.org/10.7863/ultra.15.07045DOI Listing
June 2016

Genetic analysis of Italian patients with congenital tufting enteropathy.

World J Pediatr 2016 May 18;12(2):219-24. Epub 2015 Dec 18.

Unit of Pediatrics, Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy.

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http://dx.doi.org/10.1007/s12519-015-0070-yDOI Listing
May 2016

Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results.

Mol Med Rep 2015 Oct 11;12(4):6128-32. Epub 2015 Aug 11.

Department of Advanced Diagnostic and Clinical Trials, Institute for Maternal and Child Health ‑ IRCCS 'Burlo Garofolo', Trieste, Trieste 34137, Italy.

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http://dx.doi.org/10.3892/mmr.2015.4215DOI Listing
October 2015

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.

Genet Med 2015 May 18;17(5):396-9. Epub 2014 Sep 18.

1] Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy [2] Institute for Maternal and Child Health, IRCCS "Burlo Garofolo," Trieste, Italy.

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http://dx.doi.org/10.1038/gim.2014.118DOI Listing
May 2015

A brain and heart connection: X-linked periventricular heterotopia.

J Pediatr 2015 Mar 31;166(3):776. Epub 2014 Dec 31.

University of Trieste, Trieste, Italy; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.

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http://dx.doi.org/10.1016/j.jpeds.2014.11.037DOI Listing
March 2015

"Blaschkoid dyspigmentation" in a child: don't forget fibroblast chromosomal analysis.

J Pediatr 2015 Feb 27;166(2):490-90.e1. Epub 2014 Nov 27.

Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", University of Trieste, Trieste, Italy.

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http://dx.doi.org/10.1016/j.jpeds.2014.10.028DOI Listing
February 2015

A neonate with a 'milky' blood. What can it be?

Arch Dis Child Fetal Neonatal Ed 2014 Nov 19;99(6):F514. Epub 2014 Apr 19.

Pediatric Unit, St 'Maria dei Battuti Hospital', AOSMA, S.Vito al Tagliamento, Italy.

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http://dx.doi.org/10.1136/archdischild-2014-305940DOI Listing
November 2014

A girl with photosensitivity and hepatic steatosis.

J Pediatr 2014 Jul 3;165(1):201-201.e1. Epub 2014 Apr 3.

Department of Pediatrics, University of Trieste, Trieste, Italy; Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.

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http://dx.doi.org/10.1016/j.jpeds.2014.02.056DOI Listing
July 2014

A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta.

Gene 2014 Jul 14;545(2):290-2. Epub 2014 May 14.

Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.

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http://dx.doi.org/10.1016/j.gene.2014.05.028DOI Listing
July 2014

A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.

Gene 2014 Jan 6;534(2):236-9. Epub 2013 Nov 6.

Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Via dell'Istria, 34137 Trieste, Italy; University of Trieste, Trieste, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2013.10.052DOI Listing
January 2014

Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.

Am J Med Genet A 2014 Jan 22;164A(1):42-7. Epub 2013 Nov 22.

Institute for Maternal and Child Health-IRCCS "Burlo Garofolo"-Trieste, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.36165
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http://dx.doi.org/10.1002/ajmg.a.36165DOI Listing
January 2014

PMM2-CDG: phenotype and genotype in four affected family members.

Gene 2013 Dec 26;531(2):506-9. Epub 2013 Aug 26.

Institute for Maternal and Child Health, IRCCS Burlo Garofolo, via dell'Istria 65/1, 34137 Trieste, Italy.

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http://dx.doi.org/10.1016/j.gene.2013.07.083DOI Listing
December 2013

Evidence of inbreeding depression on human height.

PLoS Genet 2012 19;8(7):e1002655. Epub 2012 Jul 19.

Centre for Population Health Sciences, University of Edinburgh, Edinburgh, Scotland, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.1002655DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3400549PMC
January 2013

Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism.

Eur J Med Genet 2013 Jan 7;56(1):62-5. Epub 2012 Nov 7.

Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", Via dell'Istria 65/1, 34137 Trieste, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2012.10.008DOI Listing
January 2013

A red baby should not be taken too lightly.

Acta Paediatr 2012 Dec 23;101(12):e573-7. Epub 2012 Sep 23.

Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.

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http://dx.doi.org/10.1111/apa.12018DOI Listing
December 2012

TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.

J Invest Dermatol 2012 Oct 24;132(10):2422-2429. Epub 2012 May 24.

Department of Dermatology, University Freiburg Medical Center, Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1038/jid.2012.166DOI Listing
October 2012

A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements.

J Hum Genet 2012 May 1;57(5):311-5. Epub 2012 Mar 1.

Dermatology Unit, Ospedale Pediatrico Bambino Gesù-IRCCS, Rome, Italy.

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http://www.nature.com/articles/jhg201222
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http://dx.doi.org/10.1038/jhg.2012.22DOI Listing
May 2012

Delayed diagnosis of glycogen storage disease type III.

J Pediatr Gastroenterol Nutr 2012 Jan;54(1):122-4

Department of Pediatrics, IRCCS Burlo Garofolo, University of Trieste, Trieste, Italy.

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http://dx.doi.org/10.1097/MPG.0b013e318228d806DOI Listing
January 2012

Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12.

Gene 2012 Jan 28;492(1):315-8. Epub 2011 Oct 28.

Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S037811191100612
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http://dx.doi.org/10.1016/j.gene.2011.10.035DOI Listing
January 2012

Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations.

Ophthalmic Genet 2011 Nov 21;32(4):212-6. Epub 2011 Apr 21.

Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

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http://www.tandfonline.com/doi/full/10.3109/13816810.2011.57
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http://dx.doi.org/10.3109/13816810.2011.574186DOI Listing
November 2011

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.

Authors:
Louise V Wain Germaine C Verwoert Paul F O'Reilly Gang Shi Toby Johnson Andrew D Johnson Murielle Bochud Kenneth M Rice Peter Henneman Albert V Smith Georg B Ehret Najaf Amin Martin G Larson Vincent Mooser David Hadley Marcus Dörr Joshua C Bis Thor Aspelund Tõnu Esko A Cecile J W Janssens Jing Hua Zhao Simon Heath Maris Laan Jingyuan Fu Giorgio Pistis Jian'an Luan Pankaj Arora Gavin Lucas Nicola Pirastu Irene Pichler Anne U Jackson Rebecca J Webster Feng Zhang John F Peden Helena Schmidt Toshiko Tanaka Harry Campbell Wilmar Igl Yuri Milaneschi Jouke-Jan Hottenga Veronique Vitart Daniel I Chasman Stella Trompet Jennifer L Bragg-Gresham Behrooz Z Alizadeh John C Chambers Xiuqing Guo Terho Lehtimäki Brigitte Kühnel Lorna M Lopez Ozren Polašek Mladen Boban Christopher P Nelson Alanna C Morrison Vasyl Pihur Santhi K Ganesh Albert Hofman Suman Kundu Francesco U S Mattace-Raso Fernando Rivadeneira Eric J G Sijbrands Andre G Uitterlinden Shih-Jen Hwang Ramachandran S Vasan Thomas J Wang Sven Bergmann Peter Vollenweider Gérard Waeber Jaana Laitinen Anneli Pouta Paavo Zitting Wendy L McArdle Heyo K Kroemer Uwe Völker Henry Völzke Nicole L Glazer Kent D Taylor Tamara B Harris Helene Alavere Toomas Haller Aime Keis Mari-Liis Tammesoo Yurii Aulchenko Inês Barroso Kay-Tee Khaw Pilar Galan Serge Hercberg Mark Lathrop Susana Eyheramendy Elin Org Siim Sõber Xiaowen Lu Ilja M Nolte Brenda W Penninx Tanguy Corre Corrado Masciullo Cinzia Sala Leif Groop Benjamin F Voight Olle Melander Christopher J O'Donnell Veikko Salomaa Adamo Pio d'Adamo Antonella Fabretto Flavio Faletra Sheila Ulivi Fabiola M Del Greco Maurizio Facheris Francis S Collins Richard N Bergman John P Beilby Joseph Hung A William Musk Massimo Mangino So-Youn Shin Nicole Soranzo Hugh Watkins Anuj Goel Anders Hamsten Pierre Gider Marisa Loitfelder Marion Zeginigg Dena Hernandez Samer S Najjar Pau Navarro Sarah H Wild Anna Maria Corsi Andrew Singleton Eco J C de Geus Gonneke Willemsen Alex N Parker Lynda M Rose Brendan Buckley David Stott Marco Orru Manuela Uda Melanie M van der Klauw Weihua Zhang Xinzhong Li James Scott Yii-Der Ida Chen Gregory L Burke Mika Kähönen Jorma Viikari Angela Döring Thomas Meitinger Gail Davies John M Starr Valur Emilsson Andrew Plump Jan H Lindeman Peter A C 't Hoen Inke R König Janine F Felix Robert Clarke Jemma C Hopewell Halit Ongen Monique Breteler Stéphanie Debette Anita L Destefano Myriam Fornage Gary F Mitchell Nicholas L Smith Hilma Holm Kari Stefansson Gudmar Thorleifsson Unnur Thorsteinsdottir Nilesh J Samani Michael Preuss Igor Rudan Caroline Hayward Ian J Deary H-Erich Wichmann Olli T Raitakari Walter Palmas Jaspal S Kooner Ronald P Stolk J Wouter Jukema Alan F Wright Dorret I Boomsma Stefania Bandinelli Ulf B Gyllensten James F Wilson Luigi Ferrucci Reinhold Schmidt Martin Farrall Tim D Spector Lyle J Palmer Jaakko Tuomilehto Arne Pfeufer Paolo Gasparini David Siscovick David Altshuler Ruth J F Loos Daniela Toniolo Harold Snieder Christian Gieger Pierre Meneton Nicholas J Wareham Ben A Oostra Andres Metspalu Lenore Launer Rainer Rettig David P Strachan Jacques S Beckmann Jacqueline C M Witteman Jeanette Erdmann Ko Willems van Dijk Eric Boerwinkle Michael Boehnke Paul M Ridker Marjo-Riitta Jarvelin Aravinda Chakravarti Goncalo R Abecasis Vilmundur Gudnason Christopher Newton-Cheh Daniel Levy Patricia B Munroe Bruce M Psaty Mark J Caulfield Dabeeru C Rao Martin D Tobin Paul Elliott Cornelia M van Duijn

Nat Genet 2011 Sep 11;43(10):1005-11. Epub 2011 Sep 11.

Department of Health Sciences, University of Leicester, Leicester, UK.

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http://dx.doi.org/10.1038/ng.922DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3445021PMC
September 2011

A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature.

J Appl Genet 2011 Feb 3;52(1):77-80. Epub 2010 Nov 3.

Department of Reproductive Sciences and Development, Institute of Child Health-IRCCS Burlo Garofolo, Via dell'Istria 65, 34137, Trieste, Italy.

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http://link.springer.com/10.1007/s13353-010-0004-2
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http://dx.doi.org/10.1007/s13353-010-0004-2DOI Listing
February 2011

A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation.

Ophthalmic Genet 2010 Jun;31(2):98-100

Institute of Child and Maternal Health Burlo Garofolo, Genetics, Trieste, Italy.

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http://dx.doi.org/10.3109/13816811003620517DOI Listing
June 2010

Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene.

Eur J Med Genet 2009 Jul-Aug;52(4):191-4. Epub 2009 Feb 9.

Medical Genetics, Department of Reproductive and Developmental Sciences, Institute for Maternal and Child Health-IRCCS Burlo Garofolo, University of Trieste, Via dell'Istria 65/1, 34137 Trieste, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2009.01.006DOI Listing
November 2009

Detection of epidermal thickening in GJB2 carriers with epidermal US.

Radiology 2009 Apr 3;251(1):280-6. Epub 2009 Feb 3.

Radiology Unit, Institute of Child Health, Istituto di Ricovero e Cura a Carattere Scientifico, Burlo Garofolo Hospital, Trieste, Italy.

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http://pubs.rsna.org/doi/10.1148/radiol.2511080912
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http://dx.doi.org/10.1148/radiol.2511080912DOI Listing
April 2009