Cesare Danesino

Cesare Danesino

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Cesare Danesino

Publications by authors named "Cesare Danesino"

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

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

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

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http://dx.doi.org/10.1002/ajmg.a.61259DOI Listing
August 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:

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https://linkinghub.elsevier.com/retrieve/pii/S03781119193012
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http://dx.doi.org/10.1016/j.gene.2019.02.016DOI Listing
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 Mar 5;7(3):227-238. Epub 2018 Dec 5.

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

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http://dx.doi.org/10.1016/S2213-2600(18)30409-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391516PMC
March 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.

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http://dx.doi.org/10.1136/bmjopen-2018-022617DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340480PMC
January 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.

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http://dx.doi.org/10.4081/pr.2018.7689DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6050472PMC
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:

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http://dx.doi.org/10.1016/j.gene.2018.01.007DOI Listing
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.

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http://dx.doi.org/10.1155/2017/5181624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420919PMC
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.

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http://dx.doi.org/10.1016/j.bcmd.2016.06.007DOI Listing
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.

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http://doi.wiley.com/10.1002/ajmg.a.36992
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http://dx.doi.org/10.1002/ajmg.a.36992DOI Listing
May 2015

Maternal germinal mosaicism for SCN1A in sibs with a mild form of Dravet syndrome.

Am J Med Genet A 2015 May;167A(5):1165-7

SOC Pediatria, Ospedale Castelli, Verbania, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36990DOI Listing
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.

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http://dx.doi.org/10.1007/s12185-014-1698-4DOI Listing
January 2015

Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome.

Br J Haematol 2014 May 1;165(4):573-5. Epub 2014 Feb 1.

Medical Genetics, Department of Molecular Medicine, University of Pavia and Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.

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http://dx.doi.org/10.1111/bjh.12767DOI Listing
May 2014

Different outcomes of allogeneic hematopoietic stem cell transplant in a pair of twins affected by juvenile myelomonocytic leukemia.

Int J Hematol 2014 Feb 12;99(2):208-12. Epub 2013 Dec 12.

Pediatric Hematology Oncology, Azienda Ospedaliera Universitaria Integrata, Piazzale L.A. Scuro, 10 Policlinico G.B. Rossi, 37134, Verona, Italy,

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http://dx.doi.org/10.1007/s12185-013-1489-3DOI Listing
February 2014

Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes.

Genet Med 2014 Jan 30;16(1):3-10. Epub 2013 May 30.

Department of Molecular Medicine, General Biology and Medical Genetics, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1038/gim.2013.62DOI Listing
January 2014

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.

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http://dx.doi.org/10.1002/lary.24338DOI Listing
December 2013

Familial adult-onset Pompe disease associated with unusual clinical and histological features.

Acta Myol 2013 Oct;32(2):85-90

Muscle Pathology and Neuroimmunology Unit, Foundation IRCCS Neurological Institute "C. Besta", Milan, Italy;

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3866895PMC
October 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.

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http://dx.doi.org/10.3109/00016489.2012.718097DOI Listing
February 2013

Association of iniencephaly, anencephaly, and fusion of cervical vertebral bodies: a new autosomal recessive syndrome?

Clin Dysmorphol 2013 Jan;22(1):29-32

SOC Pediatria, Ospedale Castelli, Verbania, ASL VCO Regione Piemonte, Italy.

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http://dx.doi.org/10.1097/MCD.0b013e3283590b04DOI Listing
January 2013

Epidermal growth factor receptor overexpression/amplification in adenocarcinomas arising in the gastrointestinal tract.

Rev Esp Enferm Dig 2011 Dec;103(12):632-9

Department of Pathology, University of Brescia-Spedali Civili, Brescia, Italy.

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http://dx.doi.org/10.4321/s1130-01082011001200005DOI Listing
December 2011

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.

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http://dx.doi.org/10.1515/jpem.2011.091DOI Listing
July 2011

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.

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http://dx.doi.org/10.1016/j.braindev.2010.07.010DOI Listing
May 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.

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http://link.springer.com/content/pdf/10.1007/s10545-010-9201
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http://link.springer.com/10.1007/s10545-010-9201-8
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http://dx.doi.org/10.1007/s10545-010-9201-8DOI Listing
December 2010

Advanced magnetic resonance imaging in benign hereditary chorea: study of two familial cases.

Mov Disord 2010 Nov;25(15):2670-4

Neuroradiology Unit, Neurological Institute IRCCS C Mondino Foundation, Pavia, Italy.

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http://dx.doi.org/10.1002/mds.23281DOI Listing
November 2010

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.

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http://dx.doi.org/10.1111/j.1365-263X.2008.00915.xDOI Listing
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.

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http://dx.doi.org/10.1038/ejhg.2008.3DOI Listing
June 2008

Cutaneous metaplastic synovial cyst in Ehlers-Danlos syndrome: report of a second case.

Am J Dermatopathol 2008 Feb;30(1):59-61

Pediatria, Ospedale Castelli, ASL 14 Regione Piemonte, Verbania, Italy.

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http://dx.doi.org/10.1097/DAD.0b013e31815b9c82DOI Listing
February 2008

Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.

Eur J Hum Genet 2006 Aug 17;14(8):904-10. Epub 2006 May 17.

1Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5201640DOI Listing
August 2006

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,

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http://link.springer.com/10.1007/s10545-006-0144-z
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http://dx.doi.org/10.1007/s10545-006-0144-zDOI Listing
August 2006

Facial erythema associated with short stature, absent distal phalanx, dental and nail anomalies: case report and neuropsychological profile.

Clin Dysmorphol 2005 Apr;14(2):105-7

Department of Child Neurology and Psychiatry, IRCCS C. Mondino Foundation, University of Pavia, Italy.

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http://dx.doi.org/10.1097/00019605-200504000-00011DOI Listing
April 2005

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.

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http://link.springer.com/10.1007/s00431-004-1460-7
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http://dx.doi.org/10.1007/s00431-004-1460-7DOI Listing
July 2004

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.

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http://doi.wiley.com/10.1002/ajmg.a.30037
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http://dx.doi.org/10.1002/ajmg.a.30037DOI Listing
July 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.

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http://dx.doi.org/10.1016/j.nmd.2003.08.003DOI Listing
January 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.

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http://dx.doi.org/10.1016/s0165-4608(03)00271-1DOI Listing
January 2004

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.

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http://dx.doi.org/10.1007/s00405-002-0571-xDOI Listing
August 2003

Histiocytic disorders.

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

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

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http://dx.doi.org/10.1038/sj.thj.6200253DOI Listing
August 2003

Haemophagocytic lymphohistiocytosis: proposal of a diagnostic algorithm based on perforin expression.

Br J Haematol 2002 Oct;119(1):180-8

Onco Ematologia Pediatrica, Ospedale dei Bambini 'G. Di Cristina', Palermo, Italy.

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http://dx.doi.org/10.1046/j.1365-2141.2002.03773.xDOI Listing
October 2002