Publications by authors named "Berardino Porfirio"

31Publications

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Authors:
Valentina Silvestri Goska Leslie Daniel R Barnes Bjarni A Agnarsson Kristiina Aittomäki Elisa Alducci Irene L Andrulis Rosa B Barkardottir Alicia Barroso Daniel Barrowdale Javier Benitez Bernardo Bonanni Ake Borg Saundra S Buys Trinidad Caldés Maria A Caligo Carlo Capalbo Ian Campbell Wendy K Chung Kathleen B M Claes Sarah V Colonna Laura Cortesi Fergus J Couch Miguel de la Hoya Orland Diez Yuan Chun Ding Susan Domchek Douglas F Easton Bent Ejlertsen Christoph Engel D Gareth Evans Lidia Feliubadalò Lenka Foretova Florentia Fostira Lajos Géczi Anne-Marie Gerdes Gord Glendon Andrew K Godwin David E Goldgar Eric Hahnen Frans B L Hogervorst John L Hopper Peter J Hulick Claudine Isaacs Angel Izquierdo Paul A James Ramunas Janavicius Uffe Birk Jensen Esther M John Vijai Joseph Irene Konstantopoulou Allison W Kurian Ava Kwong Elisabetta Landucci Fabienne Lesueur Jennifer T Loud Eva Machackova Phuong L Mai Keivan Majidzadeh-A Siranoush Manoukian Marco Montagna Lidia Moserle Anna Marie Mulligan Katherine L Nathanson Heli Nevanlinna Joanne Ngeow Yuen Ye Liene Nikitina-Zake Kenneth Offit Edith Olah Olufunmilayo I Olopade Ana Osorio Laura Papi Sue K Park Inge Sokilde Pedersen Pedro Perez-Segura Annabeth H Petersen Pedro Pinto Berardino Porfirio Miquel Angel Pujana Paolo Radice Johanna Rantala Muhammad U Rashid Barak Rosenzweig Maria Rossing Marta Santamariña Rita K Schmutzler Leigha Senter Jacques Simard Christian F Singer Angela R Solano Melissa C Southey Linda Steele Zoe Steinsnyder Dominique Stoppa-Lyonnet Yen Yen Tan Manuel R Teixeira Soo H Teo Mary Beth Terry Mads Thomassen Amanda E Toland Sara Torres-Esquius Nadine Tung Christi J van Asperen Ana Vega Alessandra Viel Jeroen Vierstraete Barbara Wappenschmidt Jeffrey N Weitzel Greet Wieme Sook-Yee Yoon Kristin K Zorn Lesley McGuffog Michael T Parsons Ute Hamann Mark H Greene Judy A Kirk Susan L Neuhausen Timothy R Rebbeck Marc Tischkowitz Georgia Chenevix-Trench Antonis C Antoniou Eitan Friedman Laura Ottini

JAMA Oncol 2020 Aug;6(8):1218-1230

Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.

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http://dx.doi.org/10.1001/jamaoncol.2020.2134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7333177PMC
August 2020

iNPH as a '2-hit' Intracranial Hydrodynamic Derangement Disease.

Trends Mol Med 2020 Jun 25;26(6):531-532. Epub 2020 Apr 25.

Careggi University Hospital, Florence, Italy; Department of Clinical and Experimental Biomedical Sciences 'Mario Serio' University of Florence, Florence, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.molmed.2020.04.002DOI Listing
June 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

Glaucoma in patients with shunt-treated normal pressure hydrocephalus.

J Neurosurg 2018 10 17;129(4):1078-1084. Epub 2017 Nov 17.

5Department of Clinical and Experimental Biomedical Sciences "Mario Serio," University of Florence, Italy.

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http://dx.doi.org/10.3171/2017.5.JNS163062DOI Listing
October 2018

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

A Comment on "Juvenile-onset Normal Tension Glaucoma From Chronic, Recurrent Low Cerebrospinal Fluid Pressure." J Glaucoma. 2016;25: e738-e740.

J Glaucoma 2017 03;26(3):e132-e133

*Department of Surgery and Translational Medicine, Tuscany School of Neurosurgery Departments of †Surgery and Translational Medicine, Ophthalmic Section ‡Clinical and Experimental Biomedical Sciences, University of Florence, Italy.

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http://dx.doi.org/10.1097/IJG.0000000000000616DOI Listing
March 2017

Re: Fast circulation of cerebrospinal fluid: an alternative perspective on the protective role of high intracranial pressure in ocular hypertension.

Clin Exp Optom 2016 11 15;99(6):607. Epub 2016 Aug 15.

Department of Surgery and Translational Medicine, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1111/cxo.12423DOI Listing
November 2016

A Comment on the "Progression of Normal-tension Glaucoma After Ventriculoperitoneal Shunt to Decrease Cerebrospinal Fluid Pressure". J Glaucoma. 2016;25: e50-e52.

J Glaucoma 2016 06 30. Epub 2016 Jun 30.

Departments of *Surgery and Translational Medicine †Clinical and Experimental Biomedical Sciences, University of Florence, Italy.

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http://dx.doi.org/10.1097/IJG.0000000000000475DOI Listing
June 2016

A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria.

JIMD Rep 2016 10;30:45-52. Epub 2016 Mar 10.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1007/8904_2016_534DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110449PMC
March 2016

Aβ Clearance, "hub" of Multiple Deficiencies Leading to Alzheimer Disease.

Front Aging Neurosci 2015 20;7:200. Epub 2015 Oct 20.

Department of Clinical and Experimental Biomedical Sciences "Mario Serio", University of Florence , Florence , Italy.

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http://dx.doi.org/10.3389/fnagi.2015.00200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4611243PMC
November 2015

High resolution melting analysis of deletion/insertion polymorphisms: A new method for the detection and quantification of mixed chimerism in allogeneic stem cell transplantation.

Mol Cell Probes 2014 Feb 25;28(1):19-24. Epub 2013 Sep 25.

Department of Clinical and Experimental Biomedical Sciences, Clinical Physiopathology Unit, University of Florence, Viale Gaetano Pieraccini, 6, I-50139 Florence, Italy.

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http://dx.doi.org/10.1016/j.mcp.2013.09.001DOI Listing
February 2014

Genetic STRs variation in a large population from Tuscany (Italy).

Forensic Sci Int Genet 2007 Dec 23;1(3-4):e10-1. Epub 2007 Jul 23.

Azienda Ospedaliero-Universitaria A. Meyer, U.O. Genetica Medica, V.le Pieraccini 24, 50139 Firenze, Italy.

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http://dx.doi.org/10.1016/j.fsigen.2007.06.005DOI Listing
December 2007

The metabonomic signature of celiac disease.

J Proteome Res 2009 Jan;8(1):170-7

Magnetic Resonance Center (CERM), University of Florence, Via L.Sacconi 6, 50019 Sesto Fiorentino, Italy.

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http://pubs.acs.org/doi/abs/10.1021/pr800548z
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http://dx.doi.org/10.1021/pr800548zDOI Listing
January 2009

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.

Neuromuscul Disord 2006 Oct 1;16(9-10):548-52. Epub 2006 Sep 1.

Unit of Molecular Medicine and Pathology, Dept. of Laboratory Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.nmd.2006.07.005DOI Listing
October 2006

Sequence diversity within the HA-1 gene as detected by melting temperature assay without oligonucleotide probes.

BMC Med Genet 2005 Oct 4;6:36. Epub 2005 Oct 4.

Human Genetics Unit, Department of Clinical Physiopathology, University of Florence, Viale Gaetano Pieraccini 6, 50139 Firenze, Italy.

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http://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2
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http://dx.doi.org/10.1186/1471-2350-6-36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1260020PMC
October 2005

Lack of association between the HLA-DRB1 locus and post-streptococcal reactive arthritis and acute rheumatic fever in Italian children.

Semin Arthritis Rheum 2004 Oct;34(2):553-8

Rheumatology Unit, Department of Pediatrics, University of Florence, 50132 Firenze, Italy.

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http://dx.doi.org/10.1016/j.semarthrit.2004.04.001DOI Listing
October 2004

Alpha-actin gene mutations and polymorphisms in Italian patients with nemaline myopathy.

Int J Mol Med 2004 Jun;13(6):805-9

Department of Clinical Physiopathology, Human Genetics Unit, University of Florence, I-50139 Florence, Italy.

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June 2004

Alkaptonuria, ochronosis, and ochronotic arthropathy.

Semin Arthritis Rheum 2004 Feb;33(4):239-48

Rheumatology Unit, Azienda Sanitaria di Firenze, Florence, Italy.

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http://dx.doi.org/10.1053/s0049-0172(03)00080-5DOI Listing
February 2004

Influence of calcium-sensing receptor gene on urinary calcium excretion in stone-forming patients.

J Am Soc Nephrol 2002 Oct;13(10):2517-23

Division of Nephrology Dialysis and Hypertension, Postgraduate School of Nephrology, Ateneo Vita e Salute, IRCCS San Raffaele Hospital, Milan, Italy.

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http://dx.doi.org/10.1097/01.asn.0000030077.72157.d2DOI Listing
October 2002