Antonella Fabretto

Antonella Fabretto

UNVERIFIED PROFILE

Are you Antonella Fabretto?   Register this Author

Register author
Antonella Fabretto

Antonella Fabretto

Publications by authors named "Antonella Fabretto"

Are you Antonella Fabretto?   Register this Author

19Publications

499Reads

19Profile Views

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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:

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.35239
Publisher Site
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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
http://jmedicalcasereports.biomedcentral.com/articles/10.118
Publisher Site
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.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s13353-010-0004-2
Publisher Site
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
http://www.tandfonline.com/doi/full/10.1080/1381681080259255
Publisher Site
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.

View Article

Download full-text PDF

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