Publications by authors named "Francesca Gensini"

27Publications

Correction to: Epigenomic, genomic, and transcriptomic landscape of schwannomatosis.

Acta Neuropathol 2020 Oct 28. Epub 2020 Oct 28.

Princess Margaret Cancer Center and MacFeeters-Hamilton Center for Neuro-Oncology Research, University Health Network, Wilkins Family Chair in Brain Tumor Research, 14-701 PMCRT, 101 College St, Toronto, ON, M5G 1L7, Canada.

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http://dx.doi.org/10.1007/s00401-020-02241-8DOI Listing
October 2020

Epigenomic, genomic, and transcriptomic landscape of schwannomatosis.

Acta Neuropathol 2020 Oct 6. Epub 2020 Oct 6.

Princess Margaret Cancer Center and MacFeeters-Hamilton Center for Neuro-Oncology Research, University Health Network, Wilkins Family Chair in Brain Tumor Research, 14-701 PMCRT, 101 College St, Toronto, ON, M5G 1L7, Canada.

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http://dx.doi.org/10.1007/s00401-020-02230-xDOI Listing
October 2020

The Spectrum of Protein Truncating Variants in European Breast Cancer Cases.

Cancers (Basel) 2020 01 26;12(2). Epub 2020 Jan 26.

Genome Diagnostics Program, IFOM - the FIRC Institute for Molecular Oncology, Milan 20139, Italy.

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http://dx.doi.org/10.3390/cancers12020292DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073216PMC
January 2020

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Authors:
Michael T Parsons Emma Tudini Hongyan Li Eric Hahnen Barbara Wappenschmidt Lidia Feliubadaló Cora M Aalfs Simona Agata Kristiina Aittomäki Elisa Alducci María Concepción Alonso-Cerezo Norbert Arnold Bernd Auber Rachel Austin Jacopo Azzollini Judith Balmaña Elena Barbieri Claus R Bartram Ana Blanco Britta Blümcke Sandra Bonache Bernardo Bonanni Åke Borg Beatrice Bortesi Joan Brunet Carla Bruzzone Karolin Bucksch Giulia Cagnoli Trinidad Caldés Almuth Caliebe Maria A Caligo Mariarosaria Calvello Gabriele L Capone Sandrine M Caputo Ileana Carnevali Estela Carrasco Virginie Caux-Moncoutier Pietro Cavalli Giulia Cini Edward M Clarke Paola Concolino Elisa J Cops Laura Cortesi Fergus J Couch Esther Darder Miguel de la Hoya Michael Dean Irmgard Debatin Jesús Del Valle Capucine Delnatte Nicolas Derive Orland Diez Nina Ditsch Susan M Domchek Véronique Dutrannoy Diana M Eccles Hans Ehrencrona Ute Enders D Gareth Evans Chantal Farra Ulrike Faust Ute Felbor Irene Feroce Miriam Fine William D Foulkes Henrique C R Galvao Gaetana Gambino Andrea Gehrig Francesca Gensini Anne-Marie Gerdes Aldo Germani Jutta Giesecke Viviana Gismondi Carolina Gómez Encarna B Gómez Garcia Sara González Elia Grau Sabine Grill Eva Gross Aliana Guerrieri-Gonzaga Marine Guillaud-Bataille Sara Gutiérrez-Enríquez Thomas Haaf Karl Hackmann Thomas V O Hansen Marion Harris Jan Hauke Tilman Heinrich Heide Hellebrand Karen N Herold Ellen Honisch Judit Horvath Claude Houdayer Verena Hübbel Silvia Iglesias Angel Izquierdo Paul A James Linda A M Janssen Udo Jeschke Silke Kaulfuß Katharina Keupp Marion Kiechle Alexandra Kölbl Sophie Krieger Torben A Kruse Anders Kvist Fiona Lalloo Mirjam Larsen Vanessa L Lattimore Charlotte Lautrup Susanne Ledig Elena Leinert Alexandra L Lewis Joanna Lim Markus Loeffler Adrià López-Fernández Emanuela Lucci-Cordisco Nicolai Maass Siranoush Manoukian Monica Marabelli Laura Matricardi Alfons Meindl Rodrigo D Michelli Setareh Moghadasi Alejandro Moles-Fernández Marco Montagna Gemma Montalban Alvaro N Monteiro Eva Montes Luigi Mori Lidia Moserle Clemens R Müller Christoph Mundhenke Nadia Naldi Katherine L Nathanson Matilde Navarro Heli Nevanlinna Cassandra B Nichols Dieter Niederacher Henriette R Nielsen Kai-Ren Ong Nicholas Pachter Edenir I Palmero Laura Papi Inge Sokilde Pedersen Bernard Peissel Pedro Perez-Segura Katharina Pfeifer Marta Pineda Esther Pohl-Rescigno Nicola K Poplawski Berardino Porfirio Anne S Quante Juliane Ramser Rui M Reis Françoise Revillion Kerstin Rhiem Barbara Riboli Julia Ritter Daniela Rivera Paula Rofes Andreas Rump Monica Salinas Ana María Sánchez de Abajo Gunnar Schmidt Ulrike Schoenwiese Jochen Seggewiß Ares Solanes Doris Steinemann Mathias Stiller Dominique Stoppa-Lyonnet Kelly J Sullivan Rachel Susman Christian Sutter Sean V Tavtigian Soo H Teo Alex Teulé Mads Thomassen Maria Grazia Tibiletti Marc Tischkowitz Silvia Tognazzo Amanda E Toland Eva Tornero Therese Törngren Sara Torres-Esquius Angela Toss Alison H Trainer Katherine M Tucker Christi J van Asperen Marion T van Mackelenbergh Liliana Varesco Gardenia Vargas-Parra Raymonda Varon Ana Vega Ángela Velasco Anne-Sophie Vesper Alessandra Viel Maaike P G Vreeswijk Sebastian A Wagner Anke Waha Logan C Walker Rhiannon J Walters Shan Wang-Gohrke Bernhard H F Weber Wilko Weichert Kerstin Wieland Lisa Wiesmüller Isabell Witzel Achim Wöckel Emma R Woodward Silke Zachariae Valentina Zampiga Christine Zeder-Göß Conxi Lázaro Arcangela De Nicolo Paolo Radice Christoph Engel Rita K Schmutzler David E Goldgar Amanda B Spurdle

Hum Mutat 2019 09;40(9):1557-1578

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/humu.23818DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6772163PMC
September 2019

Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection.

J Mol Diagn 2018 01 20;20(1):87-94. Epub 2017 Oct 20.

Department of Experimental and Clinical Biomedical Sciences Mario Serio, Medical Genetics Unit, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1016/j.jmoldx.2017.09.005DOI Listing
January 2018

Application of COLD-PCR for improved detection of NF2 mosaic mutations.

J Mol Diagn 2014 Jul 9;16(4):393-9. Epub 2014 May 9.

Medical Genetic Unit, Department of Biomedical Experimental and Clinical Sciences, University of Florence, Florence, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2014.02.007DOI Listing
July 2014

Novel human pathological mutations. Gene symbol: HBA1. Disease: haemoglobin variant.

Hum Genet 2009 Aug;126(2):343

Internal Medicine, Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy.

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August 2009

Lone and secondary nonvalvular atrial fibrillation: role of a genetic susceptibility.

Int J Cardiol 2007 Aug 20;120(1):59-65. Epub 2006 Nov 20.

Department of Medical and Surgical Critical Care, Thrombosis Centre, University of Florence, Azienda Ospedaliero-Universitaria Careggi, Viale Morgagni 85, 50134 Florence, Italy.

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http://dx.doi.org/10.1016/j.ijcard.2006.08.079DOI Listing
August 2007

Endothelial nitric oxide synthase gene influences the risk of pre-eclampsia, the recurrence of negative pregnancy events, and the maternal-fetal flow.

J Hypertens 2006 Sep;24(9):1823-9

Department of Medical and Surgical Critical Care, Section of Clinical Medicine and Cardiology, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1097/01.hjh.0000242407.58159.87DOI Listing
September 2006

Analysis of minK and eNOS genes as candidate loci for predisposition to non-valvular atrial fibrillation.

Eur Heart J 2006 Jul 7;27(14):1712-8. Epub 2006 Jun 7.

Department of Medical and Surgical Critical Care; Thrombosis Centre, Azienda Ospedaliero-Universitaria, University of Florence, Viale Morgagni 85, 50134, Italy.

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http://dx.doi.org/10.1093/eurheartj/ehl087DOI Listing
July 2006

A kindred with MYH-associated polyposis and pilomatricomas.

Am J Med Genet A 2005 Apr;134A(2):212-4

Department of Clinical Pathophysiology, Section of Medical Genetics, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1002/ajmg.a.30585DOI Listing
April 2005

Low-molecular-weight heparin lowers the recurrence rate of preeclampsia and restores the physiological vascular changes in angiotensin-converting enzyme DD women.

Hypertension 2005 Jan 22;45(1):86-91. Epub 2004 Nov 22.

Department of Gynecology, Perinatology and Human Reproduction, University of Florence, Viale GB. Morgagni 85, 50134 Florence, Italy.

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http://dx.doi.org/10.1161/01.HYP.0000149950.05182.a3DOI Listing
January 2005

Impaired fibrinolysis in retinal vein occlusion: a role for genetic determinants of PAI-1 levels.

Thromb Haemost 2004 Jul;92(1):54-60

Department of Surgical and Medical Critical Care, Thrombosis Center, University of Florence, Viale Morgagni, 85, 50134 Florence, Italy.

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http://dx.doi.org/10.1160/TH03-08-0509DOI Listing
July 2004

High-speed detection of the G894T polymorphism in exon 7 of the eNOS gene by real-time fluorescence PCR with the Light-Cycler.

Biochem Genet 2004 Apr;42(3-4):121-7

Department of Clinical Physiopathology, Unit of Medical Genetics, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1023/b:bigi.0000020467.26527.deDOI Listing
April 2004

ACE I/D polymorphism and cardiac adaptations in adolescent athletes.

Med Sci Sports Exerc 2003 Dec;35(12):1986-90

Section of Sports Medicine, Department of Medical and Surgical Critical Care, University of Florence, Italy.

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http://dx.doi.org/10.1249/01.MSS.0000098993.51693.0BDOI Listing
December 2003

Hereditary nonpolyposis colorectal cancer and related conditions.

Am J Med Genet A 2003 Nov;122A(4):325-34

Institute of Medical Genetics, Catholic University A. Gemelli School of Medicine, University of Florence, Italy.

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http://dx.doi.org/10.1002/ajmg.a.20475DOI Listing
November 2003

Angiotensin-converting enzyme and endothelial nitric oxide synthase polymorphisms in patients with atrial fibrillation.

Pacing Clin Electrophysiol 2003 Jan;26(1P2):295-8

Department of Clinical Physiopathology, Unit of Medical Genetics, University of Florence, Italy.

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http://dx.doi.org/10.1046/j.1460-9592.2003.00036.xDOI Listing
January 2003

Maternal-fetal flow, negative events, and preeclampsia: role of ACE I/D polymorphism.

Hypertension 2003 Apr 24;41(4):932-7. Epub 2003 Mar 24.

Department of Gynecology, Perinatology, and Human Reproduction, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1161/01.HYP.0000063146.40351.ADDOI Listing
April 2003