Publications by authors named "Cesare Danesino"

96Publications

F-FDG PET Identifies Altered Brain Metabolism in Patients with Cri du Chat Syndrome.

J Nucl Med 2020 08 13;61(8):1195-1199. Epub 2019 Dec 13.

Scientific Committee of ABC Associazione Nazionale Bambini Cri du Chat, San Casciano in Val di Pesa (Firenze), Italy.

View Article and Find Full Text PDF
August 2020

Skin picking disorder in 97 Italian and Spanish Cri du chat patients.

Am J Med Genet A 2019 08 12;179(8):1525-1530. Epub 2019 Jun 12.

Department of Molecular Medicine, IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy.

View Article and Find Full Text PDF
August 2019

Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0-8 years old.

BMJ Open 2019 01 17;9(1):e022617. Epub 2019 Jan 17.

Department of Human Pathology and Genetics, University of Pavia and Fondazione IRCCS Policlinico S. Matteo, Pavia, Italy.

View Article and Find Full Text PDF
January 2019

Characterization of a mutation in the zona pellucida module of Endoglin that causes Hereditary Hemorrhagic Telangiectasia.

Gene 2019 May 11;696:33-39. Epub 2019 Feb 11.

Molecular Medicine Department, General Biology and Medical Genetics Unit, University of Pavia, Via Forlanini 14, 27100 Pavia, Italy. Electronic address:

View Article and Find Full Text PDF
May 2019

Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.

Authors:
Christopher J Rhodes Ken Batai Marta Bleda Matthias Haimel Laura Southgate Marine Germain Michael W Pauciulo Charaka Hadinnapola Jurjan Aman Barbara Girerd Amit Arora Jo Knight Ken B Hanscombe Jason H Karnes Marika Kaakinen Henning Gall Anna Ulrich Lars Harbaum Inês Cebola Jorge Ferrer Katie Lutz Emilia M Swietlik Ferhaan Ahmad Philippe Amouyel Stephen L Archer Rahul Argula Eric D Austin David Badesch Sahil Bakshi Christopher Barnett Raymond Benza Nitin Bhatt Harm J Bogaard Charles D Burger Murali Chakinala Colin Church John G Coghlan Robin Condliffe Paul A Corris Cesare Danesino Stéphanie Debette C Gregory Elliott Jean Elwing Melanie Eyries Terry Fortin Andre Franke Robert P Frantz Adaani Frost Joe G N Garcia Stefano Ghio Hossein-Ardeschir Ghofrani J Simon R Gibbs John Harley Hua He Nicholas S Hill Russel Hirsch Arjan C Houweling Luke S Howard Dunbar Ivy David G Kiely James Klinger Gabor Kovacs Tim Lahm Matthias Laudes Rajiv D Machado Robert V MacKenzie Ross Keith Marsolo Lisa J Martin Shahin Moledina David Montani Steven D Nathan Michael Newnham Andrea Olschewski Horst Olschewski Ronald J Oudiz Willem H Ouwehand Andrew J Peacock Joanna Pepke-Zaba Zia Rehman Ivan Robbins Dan M Roden Erika B Rosenzweig Ghulam Saydain Laura Scelsi Robert Schilz Werner Seeger Christian M Shaffer Robert W Simms Marc Simon Olivier Sitbon Jay Suntharalingam Haiyang Tang Alexander Y Tchourbanov Thenappan Thenappan Fernando Torres Mark R Toshner Carmen M Treacy Anton Vonk Noordegraaf Quinten Waisfisz Anna K Walsworth Robert E Walter John Wharton R James White Jeffrey Wilt Stephen J Wort Delphine Yung Allan Lawrie Marc Humbert Florent Soubrier David-Alexandre Trégouët Inga Prokopenko Richard Kittles Stefan Gräf William C Nichols Richard C Trembath Ankit A Desai Nicholas W Morrell Martin R Wilkins

Lancet Respir Med 2019 03 5;7(3):227-238. Epub 2018 Dec 5.

Department of Medicine, Imperial College London, London, UK. Electronic address:

View Article and Find Full Text PDF
March 2019

Rapunzel syndrome: how to orient the diagnosis.

Pediatr Rep 2018 May 27;10(2):7689. Epub 2018 Jun 27.

Maternal-Child Department, ASL Verbano-Cusio-Ossola.

View Article and Find Full Text PDF
May 2018

Functional analysis of a novel ENG variant in a patient with hereditary hemorrhagic telangiectasia (HHT) identifies a new Sp1 binding-site.

Gene 2018 Mar 4;647:85-92. Epub 2018 Jan 4.

Molecular Medicine Department, General Biology and Medical Genetics Unit, University of Pavia, Via Forlanini 14, 27100 Pavia, Italy. Electronic address:

View Article and Find Full Text PDF
March 2018

Neoplasia in Cri du Chat Syndrome from Italian and German Databases.

Case Rep Genet 2017 24;2017:5181624. Epub 2017 Apr 24.

Dipartimento di Medicina Molecolare, Università di Pavia and IRCCS S. Matteo, Pavia, Italy.

View Article and Find Full Text PDF
April 2017

Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients.

Blood Cells Mol Dis 2016 09 22;60:33-5. Epub 2016 Jun 22.

Medical Genetics Unit, Department of Molecular Medicine, University of Pavia, Pavia, Italy.

View Article and Find Full Text PDF
September 2016

Anesthesia in Cri du Chat syndrome: Information on 51 Italian patients.

Am J Med Genet A 2015 May 28;167A(5):1168-70. Epub 2015 Mar 28.

SOC Pediatria, Ambulatorio di Genetica Clinica, Ospedale Castelli, Verbania, Italy.

View Article and Find Full Text PDF
May 2015

Increase of circulating endothelial cells in patients with Hereditary Hemorrhagic Telangiectasia.

Int J Hematol 2015 Jan 3;101(1):23-31. Epub 2014 Dec 3.

Laboratori Sperimentali di Ricerca Area Biotecnologie, IRCCS Fondazione "Policlinico S. Matteo", Viale Golgi 19, 27100, Pavia, Italy.

View Article and Find Full Text PDF
January 2015

Narrow-band imaging in the endoscopic evaluation of hereditary hemorrhagic telangiectasia patients.

Laryngoscope 2013 Dec 19;123(12):2967-8. Epub 2013 Sep 19.

Department of Otorhinolaryngology, University of Pavia, Pavia, Italy.

View Article and Find Full Text PDF
December 2013

Argon plasma coagulation is an effective treatment for hereditary hemorrhagic telangiectasia patients with severe nosebleeds.

Acta Otolaryngol 2013 Feb 15;133(2):174-80. Epub 2012 Oct 15.

Department of Otorhinolaryngology, University of Pavia and Foundation IRCCS Policlinico San Matteo, Pavia, Italy.

View Article and Find Full Text PDF
February 2013

Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomain.

PLoS One 2011 18;6(10):e26431. Epub 2011 Oct 18.

Department of Experimental Medicine, Section of General Pathology, University of Pavia, Pavia, Italy.

View Article and Find Full Text PDF
February 2012

Familial occurrence of Turner syndrome: casual event or increased risk?

J Pediatr Endocrinol Metab 2011 ;24(3-4):223-5

Department of Pediatrics, University of Pavia and IRCCS Policlinico San Matteo Foundation, Pavia, Italy.

View Article and Find Full Text PDF
July 2011

Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II.

J Inherit Metab Dis 2010 Dec 14;33(6):727-35. Epub 2010 Sep 14.

Regional Coordination Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Piazzale Santa Maria della Misericordia 15, 33100 Udine, Italy.

View Article and Find Full Text PDF
December 2010

Electroclinical findings in four patients with karyotype 47,XYY.

Brain Dev 2011 May 16;33(5):384-9. Epub 2010 Sep 16.

Child Neuropsychiatry Unit, University of Verona, Italy.

View Article and Find Full Text PDF
May 2011

Correlation of severity of epistaxis with nasal telangiectasias in hereditary hemorrhagic telangiectasia (HHT) patients.

Am J Rhinol Allergy 2009 Jan-Feb;23(1):52-8

Department of Otorhinolaryngology, University of Pavia IRCCS Policlinico S. Matteo Foundation, Pavia, Italy.

View Article and Find Full Text PDF
May 2009

Deletion of PAX9 and oligodontia: a third family and review of the literature.

Int J Paediatr Dent 2008 Nov 28;18(6):441-5. Epub 2008 Apr 28.

SOC Pediatria, Ospedale Castelli, Verbania, Italy.

View Article and Find Full Text PDF
November 2008

Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.

Eur J Hum Genet 2008 Jun 20;16(6):742-9. Epub 2008 Feb 20.

Service de Génétique Moléculaire et Clinique, Hôpital Edouard Herriot, Université de Lyon, Université Lyon 1, 5 Place d'Arsonval, Lyon, France.

View Article and Find Full Text PDF
June 2008

Dietary treatment in adult-onset type II glycogenosis.

J Inherit Metab Dis 2006 Aug 19;29(4):590. Epub 2006 Jun 19.

Institute of Neurology IRCCS 'C. Mondino', University of Pavia, Pavia, Italy,

View Article and Find Full Text PDF
August 2006

Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: a phenotype overlapping Stratton-Parker syndrome.

Am J Med Genet A 2004 Jul;128A(1):57-9

Dipartimento di Patologia Umana ed Ereditaria, Sezione di Biologia Generale e Genetica Medica, Università degli Studi di Pavia, Via Forlanini 14, 27100 Pavia, Italy.

View Article and Find Full Text PDF
July 2004

Smith-Magenis syndrome and growth hormone deficiency.

Eur J Pediatr 2004 Jul 8;163(7):353-8. Epub 2004 May 8.

Biologia Generale e Genetica Medica, University of Pavia, Via Forlanini 14, 27100 Pavia, Italy.

View Article and Find Full Text PDF
July 2004

Familial myelodysplastic syndromes, monosomy 7/trisomy 8, and mutator effects.

Cancer Genet Cytogenet 2004 Jan;148(2):155-8

Sezione di Biologia e Genetica, Dipartimento di Scienze Biomediche Sperimentali e Cliniche, Università dell'Insubria, Via J.H. Dunant 5, 21100 Varese, Italy.

View Article and Find Full Text PDF
January 2004

Muscle MRI in adult-onset acid maltase deficiency.

Neuromuscul Disord 2004 Jan;14(1):51-5

Department of Neuroradiology, Fondazione "Istituto Neurologico C. Mondino" IRCCS, Via Palestro 3, 27100, Pavia, Italy.

View Article and Find Full Text PDF
January 2004

Histiocytic disorders.

Hematol J 2003 ;4(3):171-9

Onco Ematologia Pediatrica, Ospedale dei Bambini G. Di Cristina, Via Benedettini 1, 90134 Palermo, Italy.

View Article and Find Full Text PDF
August 2003

Clinical, genetic and immunologic analysis of a family affected by ozena.

Eur Arch Otorhinolaryngol 2003 Aug 26;260(7):390-4. Epub 2003 Mar 26.

Department of Otorhinolaryngology, University of Pavia, I.R.C.C.S. Policlinico S. Matteo, P. le Golgi 2, 27100 Pavia, Italy.

View Article and Find Full Text PDF
August 2003