Publications by authors named "Flavio Faletra"

67Publications

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

Authors:
Félixe Pelletier Stefanie Perrier Ferdy K Cayami Amytice Mirchi Stephan Saikali Luan T Tran Nicole Ulrick Kether Guerrero Emmanouil Rampakakis Rosalina M L van Spaendonk Sakkubai Naidu Daniela Pohl William T Gibson Michelle Demos Cyril Goizet Ingrid Tejera-Martin Ana Potic Brent L Fogel Bernard Brais Michel Sylvain Guillaume Sebire Charles Marques Lourenço Joshua L Bonkowsky Coriene Catsman-Berrevoets Pedro S Pinto Sandya Tirupathi Petter Strømme Ton de Grauw Dorota Gieruszczak-Bialek Ingeborg Krägeloh-Mann Hanna Mierzewska Heike Philippi Julia Rankin Tahir Atik Brenda Banwell William S Benko Astrid Blaschek Annette Bley Eugen Boltshauser Drago Bratkovic Klara Brozova Icíar Cimas Christopher Clough Bernard Corenblum Argirios Dinopoulos Gail Dolan Flavio Faletra Raymond Fernandez Janice Fletcher Maria Eugenia Garcia Garcia Paolo Gasparini Janina Gburek-Augustat Dolores Gonzalez Moron Aline Hamati Inga Harting Christoph Hertzberg Alan Hill Grace M Hobson A Micheil Innes Marcelo Kauffman Susan M Kirwin Gerhard Kluger Petra Kolditz Urania Kotzaeridou Roberta La Piana Eriskay Liston William McClintock Meriel McEntagart Fiona McKenzie Serge Melançon Anjum Misbahuddin Mohnish Suri Fernando I Monton Sebastien Moutton Raymond P J Murphy Miriam Nickel Hüseyin Onay Simona Orcesi Ferda Özkınay Steffi Patzer Helio Pedro Sandra Pekic Mercedes Pineda Marfa Amy Pizzino Barbara Plecko Bwee Tien Poll-The Vera Popovic Dietz Rating Marie-France Rioux Norberto Rodriguez Espinosa Anne Ronan John R Ostergaard Elsa Rossignol Rocio Sanchez-Carpintero Anna Schossig Nesrin Senbil Laura K Sønderberg Roos Cathy A Stevens Matthis Synofzik László Sztriha Daniel Tibussek Dagmar Timmann Davide Tonduti Bart P van de Warrenburg Maria Vázquez-López Sunita Venkateswaran Pontus Wasling Evangeline Wassmer Richard I Webster Gert Wiegand Grace Yoon Joost Rotteveel Raphael Schiffmann Marjo van der Knaap Adeline Vanderver Gabriel Á Martos-Moreno Constantin Polychronakos Nicole I Wolf Geneviève Bernard

J Clin Endocrinol Metab 2020 Oct 1. Epub 2020 Oct 1.

Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.

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October 2020

A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet.

Ital J Pediatr 2020 Aug 26;46(1):119. Epub 2020 Aug 26.

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

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August 2020

When salt is needed to grow: Questions.

Pediatr Nephrol 2020 Aug 10. Epub 2020 Aug 10.

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

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August 2020

When salt is needed to grow: Answers.

Pediatr Nephrol 2020 Aug 10. Epub 2020 Aug 10.

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

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August 2020

An unusual diagnosis for an usual test.

Ital J Pediatr 2020 Jun 10;46(1):81. Epub 2020 Jun 10.

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

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June 2020

A Child With Self-Improving Hypotonia: Look at the Skin!

J Pediatr 2020 10 6;225:269-270. Epub 2020 Jun 6.

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

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October 2020

Corrigendum to "Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency" [Immunol. Lett. 214 (2019) 52-54].

Immunol Lett 2020 Apr 12. Epub 2020 Apr 12.

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.

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April 2020

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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November 2019

Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency.

Immunol Lett 2019 10 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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October 2019

When fingers point to the diagnosis.

Arch Dis Child 2020 Nov 10;105(11):1117. Epub 2019 Aug 10.

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

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November 2020

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

Hear Res 2019 09 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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September 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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May 2019

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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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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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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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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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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October 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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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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February 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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May 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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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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July 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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January 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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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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December 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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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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December 2012

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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January 2013

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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October 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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January 2012

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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September 2011

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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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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November 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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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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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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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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April 2009