Paolo Aretini

Paolo Aretini

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Paolo Aretini

Paolo Aretini

Publications by authors named "Paolo Aretini"

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Rescuing cones and daylight vision in retinitis pigmentosa mice.

FASEB J 2019 Jun 14:fj201900414R. Epub 2019 Jun 14.

Consiglio Nazionale delle Ricerche (CNR) Institute of Neuroscience, Pisa, Italy.

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http://dx.doi.org/10.1096/fj.201900414RDOI Listing
June 2019

Molecular portrait of a rare case of metastatic glioblastoma: somatic and germline mutations using whole-exome sequencing.

Neuro Oncol 2016 Feb;18(2):298-300

Pisa Science Foundation, Pisa, Italy (S.F., F.L., P.A., C.M.M., M.M., M.L., V.D., G.B.); Department of Pathology, Pisa University Hospital, Pisa, Italy (A.G.N., G.B., A.G.B.); Radiology Unit, Pisa University Hospital, Pisa, Italy (D.C.); Division of Radiotherapy, Pisa University Hospital, Pisa, Italy (F.P.).

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http://dx.doi.org/10.1093/neuonc/nov314DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4724188PMC
February 2016

BRCA1 gene variant p.P142H associated with male breast cancer: a two-generation genealogic study and literature review.

Fam Cancer 2015 Dec;14(4):515-9

Department of Oncology, Transplants and New Technologies in Medicine, University of Pisa, Pisa, Italy.

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http://dx.doi.org/10.1007/s10689-015-9819-7DOI Listing
December 2015

The combination of four molecular markers improves thyroid cancer cytologic diagnosis and patient management.

BMC Cancer 2015 Nov 19;15:918. Epub 2015 Nov 19.

Division of Surgical, Molecular, and Ultrastructural Pathology, University of Pisa and Pisa University Hospital, Via Roma 57, Pisa, 56100, Italy.

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http://dx.doi.org/10.1186/s12885-015-1917-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4652365PMC
November 2015

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

Authors:
Timothy R Rebbeck Nandita Mitra Fei Wan Olga M Sinilnikova Sue Healey Lesley McGuffog Sylvie Mazoyer Georgia Chenevix-Trench Douglas F Easton Antonis C Antoniou Katherine L Nathanson Yael Laitman Anya Kushnir Shani Paluch-Shimon Raanan Berger Jamal Zidan Eitan Friedman Hans Ehrencrona Marie Stenmark-Askmalm Zakaria Einbeigi Niklas Loman Katja Harbst Johanna Rantala Beatrice Melin Dezheng Huo Olufunmilayo I Olopade Joyce Seldon Patricia A Ganz Robert L Nussbaum Salina B Chan Kunle Odunsi Simon A Gayther Susan M Domchek Banu K Arun Karen H Lu Gillian Mitchell Beth Y Karlan Christine Walsh Jenny Lester Andrew K Godwin Harsh Pathak Eric Ross Mary B Daly Alice S Whittemore Esther M John Alexander Miron Mary Beth Terry Wendy K Chung David E Goldgar Saundra S Buys Ramunas Janavicius Laima Tihomirova Nadine Tung Cecilia M Dorfling Elizabeth J van Rensburg Linda Steele Susan L Neuhausen Yuan Chun Ding Bent Ejlertsen Anne-Marie Gerdes Thomas v O Hansen Teresa Ramón y Cajal Ana Osorio Javier Benitez Javier Godino Maria-Isabel Tejada Mercedes Duran Jeffrey N Weitzel Kristie A Bobolis Sharon R Sand Annette Fontaine Antonella Savarese Barbara Pasini Bernard Peissel Bernardo Bonanni Daniela Zaffaroni Francesca Vignolo-Lutati Giulietta Scuvera Giuseppe Giannini Loris Bernard Maurizio Genuardi Paolo Radice Riccardo Dolcetti Siranoush Manoukian Valeria Pensotti Viviana Gismondi Drakoulis Yannoukakos Florentia Fostira Judy Garber Diana Torres Muhammad Usman Rashid Ute Hamann Susan Peock Debra Frost Radka Platte D Gareth Evans Rosalind Eeles Rosemarie Davidson Diana Eccles Trevor Cole Jackie Cook Carole Brewer Shirley Hodgson Patrick J Morrison Lisa Walker Mary E Porteous M John Kennedy Louise Izatt Julian Adlard Alan Donaldson Steve Ellis Priyanka Sharma Rita Katharina Schmutzler Barbara Wappenschmidt Alexandra Becker Kerstin Rhiem Eric Hahnen Christoph Engel Alfons Meindl Stefanie Engert Nina Ditsch Norbert Arnold Hans Jörg Plendl Christoph Mundhenke Dieter Niederacher Markus Fleisch Christian Sutter C R Bartram Nicola Dikow Shan Wang-Gohrke Dorothea Gadzicki Doris Steinemann Karin Kast Marit Beer Raymonda Varon-Mateeva Andrea Gehrig Bernhard H Weber Dominique Stoppa-Lyonnet Olga M Sinilnikova Sylvie Mazoyer Claude Houdayer Muriel Belotti Marion Gauthier-Villars Francesca Damiola Nadia Boutry-Kryza Christine Lasset Hagay Sobol Jean-Philippe Peyrat Danièle Muller Jean-Pierre Fricker Marie-Agnès Collonge-Rame Isabelle Mortemousque Catherine Nogues Etienne Rouleau Claudine Isaacs Anne De Paepe Bruce Poppe Kathleen Claes Kim De Leeneer Marion Piedmonte Gustavo Rodriguez Katie Wakely John Boggess Stephanie V Blank Jack Basil Masoud Azodi Kelly-Anne Phillips Trinidad Caldes Miguel de la Hoya Atocha Romero Heli Nevanlinna Kristiina Aittomäki Annemarie H van der Hout Frans B L Hogervorst Senno Verhoef J Margriet Collée Caroline Seynaeve Jan C Oosterwijk Johannes J P Gille Juul T Wijnen Encarna B Gómez Garcia Carolien M Kets Margreet G E M Ausems Cora M Aalfs Peter Devilee Arjen R Mensenkamp Ava Kwong Edith Olah Janos Papp Orland Diez Conxi Lazaro Esther Darder Ignacio Blanco Mónica Salinas Anna Jakubowska Jan Lubinski Jacek Gronwald Katarzyna Jaworska-Bieniek Katarzyna Durda Grzegorz Sukiennicki Tomasz Huzarski Tomasz Byrski Cezary Cybulski Aleksandra Toloczko-Grabarek Elżbieta Złowocka-Perłowska Janusz Menkiszak Adalgeir Arason Rosa B Barkardottir Jacques Simard Rachel Laframboise Marco Montagna Simona Agata Elisa Alducci Ana Peixoto Manuel R Teixeira Amanda B Spurdle Min Hyuk Lee Sue K Park Sung-Won Kim Tara M Friebel Fergus J Couch Noralane M Lindor Vernon S Pankratz Lucia Guidugli Xianshu Wang Marc Tischkowitz Lenka Foretova Joseph Vijai Kenneth Offit Mark Robson Rohini Rau-Murthy Noah Kauff Anneliese Fink-Retter Christian F Singer Christine Rappaport Daphne Gschwantler-Kaulich Georg Pfeiler Muy-Kheng Tea Andreas Berger Mark H Greene Phuong L Mai Evgeny N Imyanitov Amanda Ewart Toland Leigha Senter Anders Bojesen Inge Sokilde Pedersen Anne-Bine Skytte Lone Sunde Mads Thomassen Sanne Traasdahl Moeller Torben A Kruse Uffe Birk Jensen Maria Adelaide Caligo Paolo Aretini Soo-Hwang Teo Christina G Selkirk Peter J Hulick Irene Andrulis

JAMA 2015 Apr;313(13):1347-61

Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital and University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1001/jama.2014.5985DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4537700PMC
April 2015

Identification of two novel BRCA1-partner genes in the DNA double-strand break repair pathway.

Breast Cancer Res Treat 2013 Oct 9;141(3):515-22. Epub 2013 Oct 9.

Section of Genetic Oncology, University Hospital and University of Pisa, Pisa, Italy.

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http://dx.doi.org/10.1007/s10549-013-2705-9DOI Listing
October 2013

A molecular computational model improves the preoperative diagnosis of thyroid nodules.

BMC Cancer 2012 Sep 7;12:396. Epub 2012 Sep 7.

Division of Surgical, Molecular, and Ultrastructural Pathology, Section of Molecular Pathology, University of Pisa, Italy.

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http://dx.doi.org/10.1186/1471-2407-12-396DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3503705PMC
September 2012

BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.

Gynecol Oncol 2012 Jun 13;125(3):687-92. Epub 2012 Mar 13.

Genetics and Molecular Pathology Laboratory, Medical school of Casablanca, Casablanca, Morocco.

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http://dx.doi.org/10.1016/j.ygyno.2012.03.007DOI Listing
June 2012

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Authors:
Nasim Mavaddat Daniel Barrowdale Irene L Andrulis Susan M Domchek Diana Eccles Heli Nevanlinna Susan J Ramus Amanda Spurdle Mark Robson Mark Sherman Anna Marie Mulligan Fergus J Couch Christoph Engel Lesley McGuffog Sue Healey Olga M Sinilnikova Melissa C Southey Mary Beth Terry David Goldgar Frances O'Malley Esther M John Ramunas Janavicius Laima Tihomirova Thomas V O Hansen Finn C Nielsen Ana Osorio Alexandra Stavropoulou Javier Benítez Siranoush Manoukian Bernard Peissel Monica Barile Sara Volorio Barbara Pasini Riccardo Dolcetti Anna Laura Putignano Laura Ottini Paolo Radice Ute Hamann Muhammad U Rashid Frans B Hogervorst Mieke Kriege Rob B van der Luijt Susan Peock Debra Frost D Gareth Evans Carole Brewer Lisa Walker Mark T Rogers Lucy E Side Catherine Houghton JoEllen Weaver Andrew K Godwin Rita K Schmutzler Barbara Wappenschmidt Alfons Meindl Karin Kast Norbert Arnold Dieter Niederacher Christian Sutter Helmut Deissler Doroteha Gadzicki Sabine Preisler-Adams Raymonda Varon-Mateeva Ines Schönbuchner Heidrun Gevensleben Dominique Stoppa-Lyonnet Muriel Belotti Laure Barjhoux Claudine Isaacs Beth N Peshkin Trinidad Caldes Miguel de la Hoya Carmen Cañadas Tuomas Heikkinen Päivi Heikkilä Kristiina Aittomäki Ignacio Blanco Conxi Lazaro Joan Brunet Bjarni A Agnarsson Adalgeir Arason Rosa B Barkardottir Martine Dumont Jacques Simard Marco Montagna Simona Agata Emma D'Andrea Max Yan Stephen Fox Timothy R Rebbeck Wendy Rubinstein Nadine Tung Judy E Garber Xianshu Wang Zachary Fredericksen Vernon S Pankratz Noralane M Lindor Csilla Szabo Kenneth Offit Rita Sakr Mia M Gaudet Christian F Singer Muy-Kheng Tea Christine Rappaport Phuong L Mai Mark H Greene Anna Sokolenko Evgeny Imyanitov Amanda Ewart Toland Leigha Senter Kevin Sweet Mads Thomassen Anne-Marie Gerdes Torben Kruse Maria Caligo Paolo Aretini Johanna Rantala Anna von Wachenfeld Karin Henriksson Linda Steele Susan L Neuhausen Robert Nussbaum Mary Beattie Kunle Odunsi Lara Sucheston Simon A Gayther Kate Nathanson Jenny Gross Christine Walsh Beth Karlan Georgia Chenevix-Trench Douglas F Easton Antonis C Antoniou

Cancer Epidemiol Biomarkers Prev 2012 Jan 5;21(1):134-47. Epub 2011 Dec 5.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.

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http://dx.doi.org/10.1158/1055-9965.EPI-11-0775DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272407PMC
January 2012

c-KIT receptor expression is strictly associated with the biological behaviour of thyroid nodules.

J Transl Med 2012 Jan 10;10. Epub 2012 Jan 10.

Section of Molecular Pathology, Division of Surgical, Molecular, and Ultrastructural Pathology, University of Pisa and Pisa University Hospital, via Roma 57, Pisa, 56100, Italy.

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http://dx.doi.org/10.1186/1479-5876-10-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267663PMC
January 2012

A recombination-based method to characterize human BRCA1 missense variants.

Breast Cancer Res Treat 2011 Jan 25;125(1):265-72. Epub 2010 Aug 25.

Section of Genetic Oncology, University Hospital and University of Pisa, Pisa, Italy.

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http://link.springer.com/content/pdf/10.1007/s10549-010-1112
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http://link.springer.com/10.1007/s10549-010-1112-8
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http://dx.doi.org/10.1007/s10549-010-1112-8DOI Listing
January 2011

The BRCAPRO 5.0 model is a useful tool in genetic counseling and clinical management of male breast cancer cases.

Eur J Hum Genet 2010 Jul 17;18(7):856-8. Epub 2010 Mar 17.

Molecular and Nutritional Epidemiology Unit, Cancer Research and Prevention Institute-ISPO, Florence, Italy.

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http://dx.doi.org/10.1038/ejhg.2010.29DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987355PMC
July 2010

PIK3CA in breast carcinoma: a mutational analysis of sporadic and hereditary cases.

Diagn Mol Pathol 2009 Dec;18(4):200-5

Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, University of Pisa, University Hospital of Pisa, Italy.

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http://dx.doi.org/10.1097/PDM.0b013e31818e5fa4DOI Listing
December 2009

A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance.

Hum Mutat 2009 Jan;30(1):123-33

Sezione Genetica Oncologica Divisione di Patologia Dipartimento di Oncologia Università di Pisa, Pisa, Italy.

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http://doi.wiley.com/10.1002/humu.20817
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http://dx.doi.org/10.1002/humu.20817DOI Listing
January 2009

Evaluation of FISH image analysis system on assessing HER2 amplification in breast carcinoma cases.

Breast 2008 Feb 21;17(1):80-4. Epub 2007 Sep 21.

Department of Informatics, Aristotle University of Thessaloniki, Box 451, 54124 Thessaloniki, Greece.

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http://dx.doi.org/10.1016/j.breast.2007.07.041DOI Listing
February 2008

Identification of novel alternatively spliced BRCA1-associated RING domain (BARD1) messenger RNAs in human peripheral blood lymphocytes and in sporadic breast cancer tissues.

Genes Chromosomes Cancer 2007 Sep;46(9):791-5

Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, University of Pisa and Pisa University Hospital, Via Roma 57, 56126 Pisa, Italy.

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http://dx.doi.org/10.1002/gcc.20460DOI Listing
September 2007

High level of messenger RNA for BRMS1 in primary breast carcinomas is associated with poor prognosis.

Int J Cancer 2007 Mar;120(6):1169-78

Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, University of Pisa and Pisa University Hospital, Via Roma 57, 56126 Pisa, Italy.

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http://dx.doi.org/10.1002/ijc.22379DOI Listing
March 2007

RNA-based analysis of BRCA1 and BRCA2 gene alterations.

Cancer Genet Cytogenet 2006 Oct;170(2):93-101

Section of Genetic Oncology, Division of Surgical, Molecular and Ultrastructural Pathology, University of Pisa and Pisa University Hospital, Via Roma, Pisa, Italy.

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http://dx.doi.org/10.1016/j.cancergencyto.2006.05.005DOI Listing
October 2006

Papillary lesions of the breast: a molecular progression?

Breast Cancer Res Treat 2005 Mar;90(1):71-6

Division of Surgical, Molecular and Ultrastructural Pathology, University of Pisa and University Hospital of Pisa, Italy.

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http://link.springer.com/content/pdf/10.1007/s10549-004-3003
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http://link.springer.com/10.1007/s10549-004-3003-3
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http://dx.doi.org/10.1007/s10549-004-3003-3DOI Listing
March 2005

Angiogenesis and VEGF expression in pre-invasive lesions of the human breast.

J Pathol 2004 Oct;204(2):140-6

Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, University of Pisa and Pisa University Hospital, Pisa, Italy.

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http://doi.wiley.com/10.1002/path.1626
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http://dx.doi.org/10.1002/path.1626DOI Listing
October 2004

Haplotype analysis of BRCA1 gene reveals a new gene rearrangement: characterization of a 19.9 KBP deletion.

Eur J Hum Genet 2004 Sep;12(9):775-7

Section of Oncogenetics, Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, Transplants and New Technologies in Medicine, University of Pisa and University Hospital of Pisa, Italy.

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http://dx.doi.org/10.1038/sj.ejhg.5201223DOI Listing
September 2004

Clinicopathological significance of GADD45 gene alterations in human familial breast carcinoma.

Breast Cancer Res Treat 2004 Sep;87(2):197-201

Section of Oncogenetics, Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, University of Pisa and University Hospital of Pisa, Italy.

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http://dx.doi.org/10.1023/B:BREA.0000041625.60280.4aDOI Listing
September 2004

Definition of the microvascular pattern of the normal human adult mammary gland.

J Anat 2003 Dec;203(6):599-603

Department of Oncology, Division of Surgical, Molecular and Ultrastructural Pathology, University of Pisa, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1571199PMC
http://dx.doi.org/10.1046/j.1469-7580.2003.00244.xDOI Listing
December 2003

p53 inactivation is a rare event in familial breast tumors negative for BRCA1 and BRCA2 mutations.

Breast Cancer Res Treat 2003 Nov;82(1):1-9

Section of Oncogenetics, Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, University Hospital of Pisa, University of Pisa, Pisa, Italy.

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http://dx.doi.org/10.1023/B:BREA.0000003836.91844.b5DOI Listing
November 2003