Publications by authors named "Giorgio Gimelli"

76Publications

The Prognosis of Elderly Patients with Aortic Stenosis after Transcatheter Aortic Valve Replacement.

Intern Med 2020 Oct 7. Epub 2020 Oct 7.

Department of Surgery, University of Wisconsin School of Medicine and Public Health, Madison, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2169/internalmedicine.5047-20DOI Listing
October 2020

The impact of increased pulmonary arterial pressure on outcomes after transcatheter aortic valve replacement.

Catheter Cardiovasc Interv 2020 Apr 3. Epub 2020 Apr 3.

Division of Cardiothoracic surgery, Department of Surgery, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ccd.28862DOI Listing
April 2020

1p31.1 microdeletion including only NEGR1 gene in two patients.

Eur J Med Genet 2020 Jun 21;63(6):103919. Epub 2020 Mar 21.

Laboratory of Cytogenetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2020.103919DOI Listing
June 2020

'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22.

J Genet 2019 06;98(2)

Laboratorio di Citogenetica, Istituto Giannina Gaslini, 16147 Genova, Italy.

View Article

Download full-text PDF

Source
June 2019

Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome.

Cytogenet Genome Res 2017 13;152(1):22-28. Epub 2017 Jun 13.

Laboratory of Cytogenetics, Giannina Gaslini Institute, Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000477292DOI Listing
September 2017

Interstitial 11q24 deletion: a new case and review of the literature.

J Appl Genet 2016 Aug 28;57(3):357-62. Epub 2016 Mar 28.

Laboratorio di Citogenetica, Istituto Giannina Gaslini, L.go G.Gaslini 5, 16147, Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s13353-015-0333-2DOI Listing
August 2016

Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation.

Gynecol Endocrinol 2016 16;32(1):14-7. Epub 2015 Nov 16.

d UOC Genetica Medica, Istituto Giannina Gaslini , Genova , Italy , and.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/09513590.2015.1106472DOI Listing
December 2016

Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion.

Mol Cytogenet 2014 21;7:49. Epub 2014 Jul 21.

Laboratorio di Citogenetica, Istituto G.Gaslini, L.go G.Gaslini 5, Genoa 16147, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1755-8166-7-49DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4115490PMC
July 2014

RORB gene and 9q21.13 microdeletion: report on a patient with epilepsy and mild intellectual disability.

Eur J Med Genet 2014 Jan 17;57(1):44-6. Epub 2013 Dec 17.

Laboratorio di Citogenetica, Istituto Giannina Gaslini, Largo G. Gaslini 5, I-16148 Genova, Italy. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212130025
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2013.12.001DOI Listing
January 2014

A rare 3q13.31 microdeletion including GAP43 and LSAMP genes.

Mol Cytogenet 2013 Nov 26;6(1):52. Epub 2013 Nov 26.

Laboratorio di Citogenetica, Istituto G, Gaslini, Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1755-8166-6-52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3906914PMC
November 2013

Interstitial 2q24.3 deletion including SCN2A and SCN3A genes in a patient with autistic features, psychomotor delay, microcephaly and no history of seizures.

Gene 2013 Dec 28;532(2):294-6. Epub 2013 Sep 28.

U.O. e Cattedra di Neuropsichiatria Infantile, Istituto G. Gaslini, Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2013.09.073DOI Listing
December 2013

Chronic total occlusion and successful drug-eluting stent placement in Takayasu arteritis-induced renal artery stenosis.

Clin Med Res 2013 Dec 8;11(4):233-6. Epub 2013 May 8.

Corresponding Author: Hemender S. Vats, Clinical Associate Professor, University of Wisconsin, School of Medicine and Public Health, Rm 130, Mc9580 Wisconsin Dialysis, Inc, 3034 Fish Hatchery Rd, Madison, WI 53713.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3121/cmr.2013.1132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917996PMC
December 2013

Diagnosis and treatment of peripheral arterial disease in CKD patients.

Semin Dial 2013 Mar-Apr;26(2):240-51. Epub 2012 Oct 16.

Department of Medicine, Nephrology and Cardiovascular Medicine Sections, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/sdi.12001
Publisher Site
http://dx.doi.org/10.1111/sdi.12001DOI Listing
September 2013

Pre PCI hospital antithrombotic therapy for ST elevation myocardial infarction: striving for consensus.

J Thromb Thrombolysis 2012 Jul;34(1):20-30

Division of Cardiovascular Medicine, University of Wisconsin Hospital and Clinics, 600 Highland Avenue, Madison, WI 53792, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11239-012-0744-4DOI Listing
July 2012

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011

Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract.

Hum Mutat 2010 Dec 9;31(12):1352-9. Epub 2010 Nov 9.

Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.21378DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3056145PMC
December 2010

Arterial interventions in arteriovenous access and chronic kidney disease: a role for interventional nephrologists.

Semin Dial 2009 Sep-Oct;22(5):545-56. Epub 2009 Sep 11.

Section of Nephrology, Department of Medicine, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin 53713, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1525-139X.2009.00626.xDOI Listing
March 2010

An interesting case: retrograde blood flow from a LIMA sustaining hemodialysis via an AVF.

Semin Dial 2009 Sep-Oct;22(5):566-8. Epub 2009 Sep 11.

Department of Medicine, Section of Cardiovascular Medicine, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin 53713, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1525-139X.2009.00627.xDOI Listing
March 2010

A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms.

Brain Dev 2010 Mar 11;32(3):248-52. Epub 2009 Feb 11.

Epilepsy Center, Neurology Department, Federico II University, Via Pansini 5, 80131 Naples, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2009.01.003DOI Listing
March 2010

Hemodynamically supported percutaneous coronary revascularization improves left ventricular function in patients with ischemic dilated cardiomyopathy at very high risk for surgery: a single-center experience.

J Invasive Cardiol 2008 Dec;20(12):642-6

Division of Cardiovascular Medicine, University of Wisconsin School of Medicine and Public Health, Madison, WI 53792, USA.

View Article

Download full-text PDF

Source
December 2008

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

How I do it: endovascular stent deployment using a novel technique that obviates the need for introducer-sheath upsizing.

Semin Dial 2009 Sep-Oct;22(5):584-7. Epub 2008 Aug 28.

Section of Nephrology, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin 53713, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1525-139X.2008.00472.xDOI Listing
March 2010

Long-term survival using intra-aortic balloon pump and percutaneous right ventricular assist device for biventricular mechanical support of cardiogenic shock.

J Invasive Cardiol 2008 Jul;20(7):E205-7

Division of Cardiovascular Medicine, University of Wisconsin-Madison, 321 S. Owen Drive, Madison, WI 53705, USA.

View Article

Download full-text PDF

Source
July 2008

Percutaneous closure of a large PDA in a 35-year-old man with elevated pulmonary vascular resistance.

Congenit Heart Dis 2008 Mar-Apr;3(2):149-54

Pediatric Cardiology, University of Wisconsin, Madison, WI 53792, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/j.1747-0803.2008.00169.x
Publisher Site
http://dx.doi.org/10.1111/j.1747-0803.2008.00169.xDOI Listing
June 2008

How I do it: preferential use of the right external jugular vein for tunneled catheter placement.

Semin Dial 2008 Mar-Apr;21(2):183-5. Epub 2008 Feb 1.

University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin 53713, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1525-139X.2007.00415.xDOI Listing
July 2008

How I do it: directional atherectomy for in-stent restenosis of a PTFE arteriovenous graft.

Semin Dial 2008 May-Jun;21(3):266-8. Epub 2008 Feb 1.

Section of Nephrology, Department of Medicine, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1525-139X.2007.00418.xDOI Listing
October 2008

Does detection of carotid plaque affect physician behavior or motivate patients?

Am Heart J 2007 Dec 17;154(6):1072-7. Epub 2007 Oct 17.

Division of Cardiovascular Medicine, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ahj.2007.06.046DOI Listing
December 2007

Delayed complete heart block secondary to jailed first septal perforator.

J Invasive Cardiol 2007 Nov;19(11):E338-9

University of Wisconsin School of Medicine and Public Health, H6/360 CSC, 600 Highland Avenue, Madison, WI 53792, USA.

View Article

Download full-text PDF

Source
November 2007

Characterization of a recurrent 15q24 microdeletion syndrome.

Hum Mol Genet 2007 Mar 14;16(5):567-72. Epub 2007 Mar 14.

Department of Genome Sciences, University of Washington School of Medicine, 1705 NE Pacific Street Seattle, WA 98195, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddm016DOI Listing
March 2007

Treatment of an Angio-Seal-related vascular complication using the SilverHawk plaque excision system: a case report.

Catheter Cardiovasc Interv 2007 Jan;69(1):141-5

Department of Medicine, Division of Cardiology, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin 53792, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ccd.20877
Publisher Site
http://dx.doi.org/10.1002/ccd.20877DOI Listing
January 2007

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.

Eur J Hum Genet 2007 Jan 25;15(1):76-80. Epub 2006 Oct 25.

Laboratorio di Citogenetica, Istituto G Gaslini, Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201719DOI Listing
January 2007

Vertebral artery embolic protection via ipsilateral brachial approach during left subclavian artery angioplasty and stenting--a case report.

Vasc Endovascular Surg 2006 May-Jun;40(3):235-8

Department of Medicine, Section of Cardiovascular Medicine, University of Wisconsin, Madison, WI 53792, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/153857440604000309DOI Listing
November 2006

A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies.

Am J Med Genet A 2006 Jan;140(1):40-5

Laboratorio di Citogenetica, Istituto G. Gaslini, 16148 Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31044DOI Listing
January 2006

Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangement?

Hum Genet 2005 Nov 15;118(2):207-13. Epub 2005 Nov 15.

Biologia Generale e Genetica Medic, Università di Pavia, Via forlanini, 14-27100, Pavia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-005-0008-xDOI Listing
November 2005