Publications by authors named "Antonella Fabretto"

20Publications

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

A new MAPT deletion in a case of speech apraxia leading to corticobasal syndrome.

Neurocase 2018 06 3;24(3):140-144. Epub 2018 Jul 3.

a Neurological Clinic, Department of Medical, Surgical and Health Sciences , University of Trieste , Trieste , Italy.

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http://dx.doi.org/10.1080/13554794.2018.1492729DOI Listing
June 2018

CTNND2 deletion and intellectual disability.

Gene 2015 Jul 1;565(1):146-9. Epub 2015 Apr 1.

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

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http://dx.doi.org/10.1016/j.gene.2015.03.054DOI Listing
July 2015

Severe inflammatory bowel disease associated with congenital alteration of transforming growth factor beta signaling.

J Crohns Colitis 2014 Aug 31;8(8):770-4. Epub 2014 Jan 31.

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

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http://dx.doi.org/10.1016/j.crohns.2014.01.013DOI Listing
August 2014

De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features.

Am J Med Genet A 2012 Apr 9;158A(4):882-7. Epub 2012 Mar 9.

S.C. Medical Genetics, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.35239
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http://dx.doi.org/10.1002/ajmg.a.35239DOI Listing
April 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

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

Molecular epidemiology of Usher syndrome in Italy.

Mol Vis 2011 22;17:1662-8. Epub 2011 Jun 22.

Medical Genetics, Department of Reproductive Sciences, Development and Public Health, IRCCS-Burlo Garofolo Children Hospital, University of Trieste, Trieste, 34100 Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3130723PMC
November 2011

Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report.

J Med Case Rep 2011 Jun 21;5:222. Epub 2011 Jun 21.

Neonatal Intensive Care Unit, Institute for Maternal and Child Health Burlo Garofolo, Via dell'Istria 65/1, 34100, Trieste, Italy.

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http://jmedicalcasereports.biomedcentral.com/articles/10.118
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http://dx.doi.org/10.1186/1752-1947-5-222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3141689PMC
June 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

Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.

Eur J Med Genet 2010 Sep-Oct;53(5):322-4. Epub 2010 Jul 29.

SC Genetica Medica, Ospedale Materno Infantile IRCCS Burlo Garofolo, Trieste, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2010.07.011DOI Listing
January 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

Ophthalmic features in a dysmorphic boy with chromosome 4q deletion and duplication.

Ophthalmic Genet 2009 Jun;30(2):103-5

Department of Surgery, Ophthalmology Unit, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.

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http://www.tandfonline.com/doi/full/10.1080/1381681080259255
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http://dx.doi.org/10.1080/13816810802592559DOI Listing
June 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