Flavio Faletra

Flavio Faletra

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Flavio Faletra

Publications by authors named "Flavio Faletra"

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Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.

Authors:
Anna Morgan Daniel C Koboldt Elizabeth S Barrie Erin R Crist Gema García García Massimo Mezzavilla Flavio Faletra Theresa Mihalic Mosher Richard K Wilson Catherine Blanchet Kandamurugu Manickam Anne-Francoise Roux Paolo Gasparini Daniele Dell'Orco Giorgia Girotto

Hum Mutat 2019 Dec 1;40(12):2286-2295. Epub 2019 Oct 1.

Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.

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http://dx.doi.org/10.1002/humu.23891DOI Listing
December 2019

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

Authors:
Stefano Paolacci Flavio Faletra Paolo Enrico Maltese Mariachiara Quadrifoglio Matteo Bertelli

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.

Authors:
Elisa Piscianz Ester Conversano Anna Monica Bianco Flavio Faletra Alberto Tommasini Erica Valencic

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

Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4.

Authors:
Roberta Bottega Maria D Perrone Katy Vecchiato Andrea Taddio Subrata Sabui Vanna Pecile Hamid M Said Flavio Faletra

J Hum Genet 2019 Nov 11;64(11):1075-1081. Epub 2019 Sep 11.

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

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http://dx.doi.org/10.1038/s10038-019-0666-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6886476PMC
November 2019

Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency.

Authors:
Erica Valencic Elisa Piscianz Fabio Sirchia Alberto Tommasini Flavio Faletra Francesca Todaro Alessandro Mauro Spinelli Raffaele Badolato

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.

Authors:
Paola Costa Caterina Zanus Flavio Faletra Giulia Ventura Giulia Maria di Marzio Chiara Cervesi Marco Carrozzi

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.

Authors:
Stefania Lenarduzzi Anna Morgan Flavio Faletra Stefania Cappellani Marcello Morgutti Massimo Mezzavilla Adelaide Peruzzi Sara Ghiselli Umberto Ambrosetti Claudio Graziano Marco Seri Paolo Gasparini Giorgia Girotto

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

Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series.

Authors:
Maria Gnoli Eric Lodewijk Staals Laura Campanacci Maria Francesca Bedeschi Flavio Faletra Salvatore Gallone Agostino Gaudio Teresa Mattina Fiorella Gurrieri Antonio Percesepe Iria Neri Annalucia Virdi Morena Tremosini Annamaria Milanesi Evelise Brizola Elena Pedrini Luca Sangiorgi

Calcif Tissue Int 2019 Aug 25;105(2):215-221. Epub 2019 May 25.

Department of Medical Genetics and Rare Orthopaedic Diseases & CLIBI Laboratory, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.

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http://dx.doi.org/10.1007/s00223-019-00565-6DOI Listing
August 2019

When fingers point to the diagnosis.

Authors:
Andrea Trombetta Andrea Magnolato Irene Bruno Ingrid Rabach Flora Maria Murru Flavio Faletra

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?

Authors:
Roberta Bottega Luisa M R Napolitano Anna Carbone Enrico Cappelli Fabio Corsolini Silvia Onesti Anna Savoia Paolo Gasparini Flavio Faletra

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

Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis.

Authors:
Roberta Bottega Stefania Cappellani Antonella Fabretto Alessandro Mauro Spinelli Giovanni Maria Severini Michelangelo Aloisio Michela Faleschini Emmanouil Athanasakis Irene Bruno Flavio Faletra Vanna Pecile

Mol Genet Genomic Med 2019 03 9;7(3):e546. Epub 2019 Jan 9.

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

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http://dx.doi.org/10.1002/mgg3.546DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418439PMC
March 2019

Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations.

Authors:
Anna Morgan Stefania Lenarduzzi Stefania Cappellani Vanna Pecile Marcello Morgutti Eva Orzan Sara Ghiselli Umberto Ambrosetti Marco Brumat Poornima Gajendrarao Martina La Bianca Flavio Faletra Enrico Grosso Fabio Sirchia Alberto Sensi Claudio Graziano Marco Seri Paolo Gasparini Giorgia Girotto

Front Genet 2018 21;9:681. Epub 2018 Dec 21.

Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.

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https://www.frontiersin.org/article/10.3389/fgene.2018.00681
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http://dx.doi.org/10.3389/fgene.2018.00681DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309105PMC
December 2018

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

Authors:
Federico Verzegnassi Erica Valencic Valentina Kiren Nagua Giurici Anna Monica Bianco Annalisa Marcuzzi Diego Vozzi Alberto Tommasini Flavio Faletra

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!

Authors:
Marta Minute Giovanna Ventura Rita Giorgi Flavio Faletra Paola Costa Giorgio Cozzi

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

Type I interferon-mediated autoinflammation due to DNase II deficiency.

Authors:
Mathieu P Rodero Alessandra Tesser Eva Bartok Gillian I Rice Erika Della Mina Marine Depp Benoit Beitz Vincent Bondet Nicolas Cagnard Darragh Duffy Michael Dussiot Marie-Louise Frémond Marco Gattorno Flavia Guillem Naoki Kitabayashi Fabrice Porcheray Frederic Rieux-Laucat Luis Seabra Carolina Uggenti Stefano Volpi Leo A H Zeef Marie-Alexandra Alyanakian Jacques Beltrand Anna Monica Bianco Nathalie Boddaert Chantal Brouzes Sophie Candon Roberta Caorsi Marina Charbit Monique Fabre Flavio Faletra Muriel Girard Annie Harroche Evelyn Hartmann Dominique Lasne Annalisa Marcuzzi Bénédicte Neven Patrick Nitschke Tiffany Pascreau Serena Pastore Capucine Picard Paolo Picco Elisa Piscianz Michel Polak Pierre Quartier Marion Rabant Gabriele Stocco Andrea Taddio Florence Uettwiller Erica Valencic Diego Vozzi Gunther Hartmann Winfried Barchet Olivier Hermine Brigitte Bader-Meunier Alberto Tommasini Yanick J Crow

Nat Commun 2017 12 19;8(1):2176. Epub 2017 Dec 19.

INSERM UMR1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, 75015, France.

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http://dx.doi.org/10.1038/s41467-017-01932-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5736616PMC
December 2017

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

Authors:
Laura Travan Samuele Naviglio Angela De Cunto Andrea Pellegrin Vanna Pecile Alessandro Mauro Spinelli Stefania Cappellani Flavio Faletra

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

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.

Authors:
Claudio Reggiani Sandra Coppens Tayeb Sekhara Ivan Dimov Bruno Pichon Nicolas Lufin Marie-Claude Addor Elga Fabia Belligni Maria Cristina Digilio Flavio Faletra Giovanni Battista Ferrero Marion Gerard Bertrand Isidor Shelagh Joss Florence Niel-Bütschi Maria Dolores Perrone Florence Petit Alessandra Renieri Serge Romana Alexandra Topa Joris Robert Vermeesch Tom Lenaerts Georges Casimir Marc Abramowicz Gianluca Bontempi Catheline Vilain Nicolas Deconinck Guillaume Smits

Genome Med 2017 07 19;9(1):67. Epub 2017 Jul 19.

Interuniversity Institute of Bioinformatics in Brussels ULB-VUB, Brussels, 1050, Belgium.

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http://dx.doi.org/10.1186/s13073-017-0452-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518101PMC
July 2017

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

Authors:
Mariachiara Quadrifoglio Flavio Faletra Rossana Bussani Vanna Pecile Floriana Zennaro Alessandra Grasso Lorenzo Zandonà Salvatore Alberico Tamara Stampalija

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.

Authors:
Maria d'Apolito Daniela Pisanelli Flavio Faletra Ida Giardino Maddalena Gigante Massimo Pettoello-Mantovani Olivier Goulet Paolo Gasparini Angelo Campanozzi

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

Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability.

Authors:
Anna Morgan Ilaria Gandin Chiara Belcaro Pietro Palumbo Orazio Palumbo Elisa Biamino Valentina Dal Col Erik Laurini Sabrina Pricl Paolo Bosco Massimo Carella Giovanni Battista Ferrero Corrado Romano Adamo Pio d'Adamo Flavio Faletra Diego Vozzi

Mutat Res 2015 Nov 10;781:32-6. Epub 2015 Sep 10.

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

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http://dx.doi.org/10.1016/j.mrfmmm.2015.09.002DOI Listing
November 2015

Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.

Authors:
Eleonora Palagano Harry C Blair Alessandra Pangrazio Irina Tourkova Dario Strina Andrea Angius Gianmauro Cuccuru Manuela Oppo Paolo Uva Wim Van Hul Eveline Boudin Andrea Superti-Furga Flavio Faletra Agostino Nocerino Matteo C Ferrari Guido Grappiolo Marta Monari Alessandro Montanelli Paolo Vezzoni Anna Villa Cristina Sobacchi

J Bone Miner Res 2015 Oct 21;30(10):1814-21. Epub 2015 May 21.

UOS/IRGB, Milan Unit, National Research Council (CNR), Milan, Italy.

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http://dx.doi.org/10.1002/jbmr.2517DOI Listing
October 2015

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

Authors:
Anna Monica Bianco Flavio Faletra Diego Vozzi Martina Girardelli Alessandra Knowles Alberto Tommasini Giorgio Zauli Annalisa Marcuzzi

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

Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype.

Authors:
Vassilios Lougaris Flavio Faletra Gaetana Lanzi Diego Vozzi Annalisa Marcuzzi Erica Valencic Elisa Piscianz AnnaMonica Bianco Martina Girardelli Manuela Baronio Claudia Loganes Anders Fasth Filippo Salvini Antonino Trizzino Daniele Moratto Fabio Facchetti Silvia Giliani Alessandro Plebani Alberto Tommasini

Clin Immunol 2015 Jul 1;159(1):33-6. Epub 2015 May 1.

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

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http://dx.doi.org/10.1016/j.clim.2015.04.014DOI Listing
July 2015

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

Authors:
Ilaria Gandin Flavio Faletra Francesca Faletra Massimo Carella Vanna Pecile Giovanni B Ferrero Elisa Biamino Pietro Palumbo Orazio Palumbo Paolo Bosco Corrado Romano Chiara Belcaro Diego Vozzi Adamo P d'Adamo

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.

Authors:
Samuele Naviglio Irene Bruno Caterina Zanus Flavio Faletra Alessandro Ventura

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.

Authors:
Giulia Gortani Flavio Faletra Irene Bruno Irene Berti Alessandro Ventura

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

Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening.

Authors:
Arianna Maiorana Fabrizio Barbetti Arianna Boiani Vittoria Rufini Milena Pizzoferro Paola Francalanci Flavio Faletra Colin G Nichols Chiara Grimaldi Jean de Ville de Goyet Jacques Rahier Jean-Claude Henquin Carlo Dionisi-Vici

Clin Endocrinol (Oxf) 2014 Nov 30;81(5):679-88. Epub 2014 Jan 30.

Department of Pediatrics, Metabolic Unit, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1111/cen.12400DOI Listing
November 2014

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

Authors:
Andrea Bordugo Eva Carlin Sergio Demarini Flavio Faletra Franco Colonna

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.

Authors:
Matteo Pavan Giulia Gortani Elisa Rubinato Flavio Faletra Serena Pastore Alessandro Ventura

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.

Authors:
Elisa Rubinato Anna Morgan Angela D'Eustacchio Vanna Pecile Giulia Gortani Paolo Gasparini Flavio Faletra

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.

Authors:
Flavio Faletra Giorgia Girotto Adamo Pio D'Adamo Diego Vozzi Anna Morgan Paolo Gasparini

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.

Authors:
Flavio Faletra Adamo P D'Adamo Irene Bruno Emmanouil Athanasakis Saskia Biskup Laura Esposito Paolo Gasparini

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
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.36165DOI Listing
January 2014

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

Authors:
Emmanouil Athanasakis Danilo Licastro Flavio Faletra Antonella Fabretto Savina Dipresa Diego Vozzi Anna Morgan Adamo P d'Adamo Vanna Pecile Xevi Biarnés Paolo Gasparini

Am J Med Genet A 2014 Jan 4;164A(1):170-6. Epub 2013 Dec 4.

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

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http://dx.doi.org/10.1002/ajmg.a.36274DOI Listing
January 2014

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

Authors:
Barbara Bortot Dora Cosentini Flavio Faletra Stefania Biffi Eleonora De Martino Marco Carrozzi Giovanni Maria Severini

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

A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family.

Authors:
Flavio Faletra Adamo Pio d'Adamo Stefano Pensiero Emmanouil Athanasakis Dario Catalano Irene Bruno Paolo Gasparini

Ophthalmic Genet 2013 Mar-Jun;34(1-2):115-7. Epub 2012 Jul 30.

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http://dx.doi.org/10.3109/13816810.2012.707273DOI Listing
August 2013

Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort.

Authors:
Flavio Faletra Emmanouil Athanasakis Anna Morgan Xevi Biarnés Federico Fornasier Rossella Parini Francesca Furlan Arianna Boiani Arianna Maiorana Carlo Dionisi-Vici Laura Giordano Alberto Burlina Alessandro Ventura Paolo Gasparini

Gene 2013 May 16;521(1):160-5. Epub 2013 Mar 16.

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

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http://dx.doi.org/10.1016/j.gene.2013.03.021DOI Listing
May 2013

Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations.

Authors:
Flavio Faletra Kara Snider Show-Ling Shyng Irene Bruno Emmanouil Athanasakis Paolo Gasparini Carlo Dionisi-Vici Alessandro Ventura Qing Zhou Charles A Stanley Alberto Burlina

Gene 2013 Mar 22;516(1):122-5. Epub 2012 Dec 22.

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

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http://dx.doi.org/10.1016/j.gene.2012.12.055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3600632PMC
March 2013

Evidence of inbreeding depression on human height.

Authors:
Ruth McQuillan Niina Eklund Nicola Pirastu Maris Kuningas Brian P McEvoy Tõnu Esko Tanguy Corre Gail Davies Marika Kaakinen Leo-Pekka Lyytikäinen Kati Kristiansson Aki S Havulinna Martin Gögele Veronique Vitart Albert Tenesa Yurii Aulchenko Caroline Hayward Asa Johansson Mladen Boban Sheila Ulivi Antonietta Robino Vesna Boraska Wilmar Igl Sarah H Wild Lina Zgaga Najaf Amin Evropi Theodoratou Ozren Polašek Giorgia Girotto Lorna M Lopez Cinzia Sala Jari Lahti Tiina Laatikainen Inga Prokopenko Mart Kals Jorma Viikari Jian Yang Anneli Pouta Karol Estrada Albert Hofman Nelson Freimer Nicholas G Martin Mika Kähönen Lili Milani Markku Heliövaara Erkki Vartiainen Katri Räikkönen Corrado Masciullo John M Starr Andrew A Hicks Laura Esposito Ivana Kolčić Susan M Farrington Ben Oostra Tatijana Zemunik Harry Campbell Mirna Kirin Marina Pehlic Flavio Faletra David Porteous Giorgio Pistis Elisabeth Widén Veikko Salomaa Seppo Koskinen Krista Fischer Terho Lehtimäki Andrew Heath Mark I McCarthy Fernando Rivadeneira Grant W Montgomery Henning Tiemeier Anna-Liisa Hartikainen Pamela A F Madden Pio d'Adamo Nicholas D Hastie Ulf Gyllensten Alan F Wright Cornelia M van Duijn Malcolm Dunlop Igor Rudan Paolo Gasparini Peter P Pramstaller Ian J Deary Daniela Toniolo Johan G Eriksson Antti Jula Olli T Raitakari Andres Metspalu Markus Perola Marjo-Riitta Järvelin André Uitterlinden Peter M Visscher James F Wilson

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.

Authors:
Maria Santa Rocca Flavio Faletra Raffaella Devescovi Paolo Gasparini Vanna Pecile

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.

Authors:
Flavio Faletra Irene Bruno Irene Berti Serena Pastore Angela Pirrone Alberto Tommasini

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.

Authors:
Manuela Pigors Dimitra Kiritsi Cristina Cobzaru Agnes Schwieger-Briel Jose Suárez Flavio Faletra Heikki Aho Leeni Mäkelä Johannes S Kern Leena Bruckner-Tuderman Cristina Has

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.

Authors:
Paola Fortugno Fabiana Grosso Giovanna Zambruno Serena Pastore Flavio Faletra Daniele Castiglia

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

Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature.

Authors:
Flavio Faletra Adamo Pio D'Adamo Maria Santa Rocca Marco Carrozzi Maria Dolores Perrone Vanna Pecile Paolo Gasparini

Am J Med Genet A 2012 Feb 2;158A(2):461-4. Epub 2011 Dec 2.

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http://dx.doi.org/10.1002/ajmg.a.34398DOI Listing
February 2012

Delayed diagnosis of glycogen storage disease type III.

Authors:
Federico Minen Gabriele Cont Angela De Cunto Stefano Martelossi Alessandro Ventura Giuseppe Maggiore Flavio Faletra Paolo Gasparini Denise Cassandrini

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.

Authors:
Maria Santa Rocca Antonella Fabretto Flavio Faletra Ombretta Carlet Aldo Skabar Paolo Gasparini Vanna Pecile

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.

Authors:
Khaled K Abu-Amero Flavio Faletra Paolo Gasparini Fulvio Parentin Stefano Pensiero Ibrahim A Alorainy Ali M Hellani Dario Catalano Thomas M Bosley

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

Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL.

Authors:
Flavio Faletra Emmanouil Athanasakis Federico Minen Federico Fornasier Federico Marchetti Paolo Gasparini

Ophthalmic Genet 2011 Nov 14;32(4):256-8. Epub 2011 Jun 14.

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http://www.tandfonline.com/doi/full/10.3109/13816810.2011.58
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http://dx.doi.org/10.3109/13816810.2011.587082DOI 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.

Authors:
Flavio Faletra Raffaella Devescovi Vanna Pecile Antonella Fabretto Marco Carrozzi Paolo Gasparini

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.

Authors:
Antonella Fabretto Alison Shardlow Flavio Faletra Loredana Lepore Uros Hladnik Paolo Gasparini

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.

Authors:
Daniela De Rocco Nuria Pujol-Moix Alessandro Pecci Flavio Faletra Valeria Bozzi Carlo L Balduini Anna Savoia

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.

Authors:
Pierpaolo Guastalla Veronica Ileana Guerci Antonella Fabretto Flavio Faletra Domenico Leonardo Grasso Elisabetta Zocconi Despina Stefanidou Pio D'Adamo Luca Ronfani Marcella Montico Marcello Morgutti Paolo Gasparini

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

Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?

Authors:
Pio D'Adamo Veronica Ileana Guerci Antonella Fabretto Flavio Faletra Domenico Leonardo Grasso Luca Ronfani Marcella Montico Marcello Morgutti PierPaolo Guastalla Paolo Gasparini

Eur J Hum Genet 2009 Mar 3;17(3):284-6. Epub 2008 Dec 3.

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http://dx.doi.org/10.1038/ejhg.2008.225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986169PMC
March 2009