Maurizio Genuardi

Maurizio Genuardi

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Maurizio Genuardi

Publications by authors named "Maurizio Genuardi"

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Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia.

Clin Genet 2019 Jul 22;96(1):102-103. Epub 2019 Apr 22.

Fondazione Policlinico Universitario A. Gemelli IRCCS, Center for Rare Diseases and Birth Defects, Department of Woman and Child Health, Rome, Italy.

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http://dx.doi.org/10.1111/cge.13550DOI Listing
July 2019

Lynch syndrome with exclusive skin involvement: time to consider a molecular definition?

Fam Cancer 2019 Jul 10. Epub 2019 Jul 10.

Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Genetica Medica, Rome, Italy.

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http://dx.doi.org/10.1007/s10689-019-00139-3DOI Listing
July 2019

Primary constitutional MLH1 epimutations: a focal epigenetic event.

Br J Cancer 2018 10 4;119(8):978-987. Epub 2018 Oct 4.

Hereditary Cancer Program, Catalan Institute of Oncology-Bellvitge Biomedical Research Institute (ICO-IDIBELL),ONCOBELL, CIBERONC, Av.Gran Via de l'Hospitalet 199-203, L'Hospitalet de Llobregat, 08908, Barcelona, Spain.

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http://dx.doi.org/10.1038/s41416-018-0019-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6203851PMC
October 2018

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.

Ital J Pediatr 2017 Nov 3;43(1):100. Epub 2017 Nov 3.

Operative Unit of Pediatrics and Neonatal Intensive Therapy, Mother and Child Department, University of Palermo, Palermo, Italy.

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http://dx.doi.org/10.1186/s13052-017-0418-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5670717PMC
November 2017

The Role of Genetic Testing in the Identification of Young Athletes with Inherited Primitive Cardiac Disorders at Risk of Exercise Sudden Death.

Front Cardiovasc Med 2016 26;3:28. Epub 2016 Aug 26.

Unità di Medicina dello Sport, Fondazione Policlinico "A. Gemelli", Università Cattolica del Sacro Cuore , Roma , Italy.

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http://dx.doi.org/10.3389/fcvm.2016.00028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5000131PMC
September 2016

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.

Authors:
Paolo Peterlongo Irene Catucci Mara Colombo Laura Caleca Eliseos Mucaki Massimo Bogliolo Maria Marin Francesca Damiola Loris Bernard Valeria Pensotti Sara Volorio Valentina Dall'Olio Alfons Meindl Claus Bartram Christian Sutter Harald Surowy Valérie Sornin Marie-Gabrielle Dondon Séverine Eon-Marchais Dominique Stoppa-Lyonnet Nadine Andrieu Olga M Sinilnikova Gillian Mitchell Paul A James Ella Thompson Marina Marchetti Cristina Verzeroli Carmen Tartari Gabriele Lorenzo Capone Anna Laura Putignano Maurizio Genuardi Veronica Medici Isabella Marchi Massimo Federico Silvia Tognazzo Laura Matricardi Simona Agata Riccardo Dolcetti Lara Della Puppa Giulia Cini Viviana Gismondi Valeria Viassolo Chiara Perfumo Maria Antonietta Mencarelli Margherita Baldassarri Bernard Peissel Gaia Roversi Valentina Silvestri Piera Rizzolo Francesca Spina Caterina Vivanet Maria Grazia Tibiletti Maria Adelaide Caligo Gaetana Gambino Stefania Tommasi Brunella Pilato Carlo Tondini Chiara Corna Bernardo Bonanni Monica Barile Ana Osorio Javier Benitez Luisa Balestrino Laura Ottini Siranoush Manoukian Marco A Pierotti Alessandra Renieri Liliana Varesco Fergus J Couch Xianshu Wang Peter Devilee Florentine S Hilbers Christi J van Asperen Alessandra Viel Marco Montagna Laura Cortesi Orland Diez Judith Balmaña Jan Hauke Rita K Schmutzler Laura Papi Miguel Angel Pujana Conxi Lázaro Anna Falanga Kenneth Offit Joseph Vijai Ian Campbell Barbara Burwinkel Anders Kvist Hans Ehrencrona Sylvie Mazoyer Sara Pizzamiglio Paolo Verderio Jordi Surralles Peter K Rogan Paolo Radice

Hum Mol Genet 2015 Sep 30;24(18):5345-55. Epub 2015 Jun 30.

IFOM, the FIRC Institute of Molecular Oncology, Milan, Italy, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine.

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http://dx.doi.org/10.1093/hmg/ddv251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4550823PMC
September 2015

Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype.

Eur J Med Genet 2015 Aug 24;58(8):400-5. Epub 2015 Jun 24.

Institute of Medical Genetics, Università Cattolica S. Cuore, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.06.001DOI Listing
August 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

Encomium: Giovanni Neri--polyhedral and down-to-earth mentor.

Am J Med Genet A 2013 Nov 3;161A(11):2687-90. Epub 2013 Oct 3.

Chair of Medical Genetics, Department of Biomedical, Clinical and Experimental Sciences, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36261DOI Listing
November 2013

The growing complexity of the intestinal polyposis syndromes.

Am J Med Genet A 2013 Nov 3;161A(11):2777-87. Epub 2013 Oct 3.

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

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http://dx.doi.org/10.1002/ajmg.a.36253DOI Listing
November 2013

Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians.

Fam Cancer 2013 Jun;12(2):181-7

Department of Genetics, University Medical Center Groningen, University of Groningen, Hanzeplein 1, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/s10689-013-9629-8DOI Listing
June 2013

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk.

Authors:
Mia M Gaudet Karoline B Kuchenbaecker Joseph Vijai Robert J Klein Tomas Kirchhoff Lesley McGuffog Daniel Barrowdale Alison M Dunning Andrew Lee Joe Dennis Sue Healey Ed Dicks Penny Soucy Olga M Sinilnikova Vernon S Pankratz Xianshu Wang Ronald C Eldridge Daniel C Tessier Daniel Vincent Francois Bacot Frans B L Hogervorst Susan Peock Dominique Stoppa-Lyonnet Paolo Peterlongo Rita K Schmutzler Katherine L Nathanson Marion Piedmonte Christian F Singer Mads Thomassen Thomas v O Hansen Susan L Neuhausen Ignacio Blanco Mark H Greene Judith Garber Jeffrey N Weitzel Irene L Andrulis David E Goldgar Emma D'Andrea Trinidad Caldes Heli Nevanlinna Ana Osorio Elizabeth J van Rensburg Adalgeir Arason Gad Rennert Ans M W van den Ouweland Annemarie H van der Hout Carolien M Kets Cora M Aalfs Juul T Wijnen Margreet G E M Ausems Debra Frost Steve Ellis Elena Fineberg Radka Platte D Gareth Evans Chris Jacobs Julian Adlard Marc Tischkowitz Mary E Porteous Francesca Damiola Lisa Golmard Laure Barjhoux Michel Longy Muriel Belotti Sandra Fert Ferrer Sylvie Mazoyer Amanda B Spurdle Siranoush Manoukian Monica Barile Maurizio Genuardi Norbert Arnold Alfons Meindl Christian Sutter Barbara Wappenschmidt Susan M Domchek Georg Pfeiler Eitan Friedman Uffe Birk Jensen Mark Robson Sohela Shah Conxi Lazaro Phuong L Mai Javier Benitez Melissa C Southey Marjanka K Schmidt Peter A Fasching Julian Peto Manjeet K Humphreys Qin Wang Kyriaki Michailidou Elinor J Sawyer Barbara Burwinkel Pascal Guénel Stig E Bojesen Roger L Milne Hermann Brenner Magdalena Lochmann Kristiina Aittomäki Thilo Dörk Sara Margolin Arto Mannermaa Diether Lambrechts Jenny Chang-Claude Paolo Radice Graham G Giles Christopher A Haiman Robert Winqvist Peter Devillee Montserrat García-Closas Nils Schoof Maartje J Hooning Angela Cox Paul D P Pharoah Anna Jakubowska Nick Orr Anna González-Neira Guillermo Pita M Rosario Alonso Per Hall Fergus J Couch Jacques Simard David Altshuler Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou Kenneth Offit

PLoS Genet 2013 27;9(3):e1003173. Epub 2013 Mar 27.

Epidemiology Research Program, American Cancer Society, Atlanta, Georgia, USA.

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http://diposit.ub.edu/dspace/bitstream/2445/68639/1/626984.p
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http://dx.plos.org/10.1371/journal.pgen.1003173
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http://dx.doi.org/10.1371/journal.pgen.1003173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3609647PMC
June 2013

Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication.

Am J Med Genet A 2013 Jun 30;161A(6):1459-64. Epub 2013 Apr 30.

Pediatric Neurology Unit and Laboratories, Pediatric Hospital A. Meyer, Department of Clinical Pathophysiology, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35907DOI Listing
June 2013

The policy of public health genomics in Italy.

Health Policy 2013 May 5;110(2-3):214-9. Epub 2013 Mar 5.

Institute of Hygiene, Università Cattolica del Sacro Cuore, Largo F. Vito 1, 00168 Rome, Italy.

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http://dx.doi.org/10.1016/j.healthpol.2013.01.015DOI Listing
May 2013

Duodenal carcinoma in a 37-year-old man with Cowden/Bannayan syndrome.

Dig Liver Dis 2013 Jan 30;45(1):75-8. Epub 2012 Oct 30.

Department of Internal Medicine, University of Modena and Reggio Emilia, Modena, Italy.

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http://dx.doi.org/10.1016/j.dld.2012.09.017DOI Listing
January 2013

Stepwise functional assessment of unclassified DNA variants.

Hum Mutat 2011 Jan;32(1)

University of Florence, Italy.

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http://dx.doi.org/10.1002/humu.21433DOI Listing
January 2011

Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11).

Eur J Endocrinol 2010 Aug 1;163(2):329-37. Epub 2010 Jun 1.

Department of Paediatrics, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1530/EJE-10-0167DOI Listing
August 2010

A PALB2 germline mutation associated with hereditary breast cancer in Italy.

Fam Cancer 2010 Jun 18;9(2):181-5. Epub 2009 Sep 18.

Medical Genetics Unit, Department of Clinical Physiopathology, University of Florence, Viale Pieraccini, 6, 50139 Florence, Italy.

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http://dx.doi.org/10.1007/s10689-009-9295-zDOI Listing
June 2010

Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)).

Clin Endocrinol (Oxf) 2010 Jun 26;72(6):839-44. Epub 2009 Oct 26.

Paediatric Endocrinology Unit, University of Florence, Anna Meyer Children's Hospital, Florence, Italy.

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http://dx.doi.org/10.1111/j.1365-2265.2009.03736.xDOI Listing
June 2010

Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity.

Pediatr Nephrol 2009 Nov 29;24(11):2147-53. Epub 2009 Jul 29.

Department of Clinical Pathophysiology, University of Florence, Italy.

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http://dx.doi.org/10.1007/s00467-009-1261-3DOI Listing
November 2009

Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes.

Nephrol Dial Transplant 2009 Sep 13;24(9):2734-8. Epub 2009 Apr 13.

Department of Clinical Pathophysiology, University of Florence, Italy.

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http://dx.doi.org/10.1093/ndt/gfp160DOI Listing
September 2009

Genetic profiling of Bolivian population using 15 STR markers of forensic importance.

Leg Med (Tokyo) 2009 May 13;11(3):149-51. Epub 2009 Mar 13.

Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.

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http://dx.doi.org/10.1016/j.legalmed.2008.12.005DOI Listing
May 2009

Planning the human variome project: the Spain report.

Authors:
Jim Kaput Richard G H Cotton Lauren Hardman Michael Watson Aida I Al Aqeel Jumana Y Al-Aama Fahd Al-Mulla Santos Alonso Stefan Aretz Arleen D Auerbach Bharati Bapat Inge T Bernstein Jong Bhak Stacey L Bleoo Helmut Blöcker Steven E Brenner John Burn Mariona Bustamante Rita Calzone Anne Cambon-Thomsen Michele Cargill Paola Carrera Lawrence Cavedon Yoon Shin Cho Yeun-Jun Chung Mireille Claustres Garry Cutting Raymond Dalgleish Johan T den Dunnen Carlos Díaz Steven Dobrowolski M Rosário N dos Santos Rosemary Ekong Simon B Flanagan Paul Flicek Yoichi Furukawa Maurizio Genuardi Ho Ghang Maria V Golubenko Marc S Greenblatt Ada Hamosh John M Hancock Ross Hardison Terence M Harrison Robert Hoffmann Rania Horaitis Heather J Howard Carol Isaacson Barash Neskuts Izagirre Jongsun Jung Toshio Kojima Sandrine Laradi Yeon-Su Lee Jong-Young Lee Vera L Gil-da-Silva-Lopes Finlay A Macrae Donna Maglott Makia J Marafie Steven G E Marsh Yoichi Matsubara Ludwine M Messiaen Gabriela Möslein Mihai G Netea Melissa L Norton Peter J Oefner William S Oetting James C O'Leary Ana Maria Oller de Ramirez Mark H Paalman Jillian Parboosingh George P Patrinos Giuditta Perozzi Ian R Phillips Sue Povey Suyash Prasad Ming Qi David J Quin Rajkumar S Ramesar C Sue Richards Judith Savige Dagmar G Scheible Rodney J Scott Daniela Seminara Elizabeth A Shephard Rolf H Sijmons Timothy D Smith María-Jesús Sobrido Toshihiro Tanaka Sean V Tavtigian Graham R Taylor Jon Teague Thoralf Töpel Mollie Ullman-Cullere Joji Utsunomiya Henk J van Kranen Mauno Vihinen Elizabeth Webb Thomas K Weber Meredith Yeager Young I Yeom Seon-Hee Yim Hyang-Sook Yoo

Hum Mutat 2009 Apr;30(4):496-510

Division of Personalised Nutrition and Medicine, FDA/National Center for Toxicological Research, Jefferson, Arkansas 72079, USA.

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http://compbio.berkeley.edu/people/brenner/pubs/kaput-2009-h
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http://doi.wiley.com/10.1002/humu.20972
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http://dx.doi.org/10.1002/humu.20972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5879779PMC
April 2009

Endometrial cancer and somatic G>T KRAS transversion in patients with constitutional MUTYH biallelic mutations.

Cancer Lett 2009 Feb 5;274(2):266-70. Epub 2008 Nov 5.

Department of Clinical Pathophysiology, Medical Genetics Unit, University of Florence Medical School, Viale G. Pieraccini 6, 50139 Florence, Italy.

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http://dx.doi.org/10.1016/j.canlet.2008.09.022DOI Listing
February 2009

A proteomics approach to identify changes in protein profiles in serum of Familial Adenomatous Polyposis patients.

Cancer Lett 2008 Dec 29;272(1):40-52. Epub 2008 Jul 29.

Dipartimento di Medicina Sperimentale e Clinica G. Salvatore, Università degli Studi di Catanzaro Magna Graecia, Viale Europa, Campus Universitario Salvatore Venuta, 88100 Catanzaro, Italy.

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http://dx.doi.org/10.1016/j.canlet.2008.06.021DOI Listing
December 2008

Interleukin-10 promoter polymorphisms influence susceptibility to ulcerative colitis in a gender-specific manner.

Scand J Gastroenterol 2008 ;43(6):712-8

Neurogenetics Unit, Department of Neurological and Psychiatric Sciences, University of Florence, Italy.

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http://dx.doi.org/10.1080/00365520701885507DOI Listing
August 2008

NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis.

Genet Test 2008 Jun;12(2):311-8

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

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http://dx.doi.org/10.1089/gte.2007.0096DOI Listing
June 2008

Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas.

Hum Mutat 2008 Feb;29(2):227-31

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

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http://dx.doi.org/10.1002/humu.20679DOI Listing
February 2008

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

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

A single mutation in the FGA locus responsible for false homozygosities and discrepancies between commercial kits in an unusual paternity test case.

J Forensic Sci 2007 Mar;52(2):393-6

Azienda Ospedaliero-Universitaria A.Meyer U.O. Genetica Medica, Florence, Italy.

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http://dx.doi.org/10.1111/j.1556-4029.2006.00357.xDOI Listing
March 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

Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion.

Eur J Hum Genet 2006 Jan;14(1):63-8

Experimental Oncology 1, Department of Preclinical Research and Epidemiology, Centro Riferimento Oncologico-IRCCS, Aviano, Italy.

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http://dx.doi.org/10.1038/sj.ejhg.5201517DOI Listing
January 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

Inherited cancer predisposition.

Am J Med Genet C Semin Med Genet 2004 Aug;129C(1):1-4

Section of Medical Genetics, Dept. of Clinical Pathophysiology, University of Florence, Viale G. Pieraccini 6, 50139 Florence, Italy.

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http://doi.wiley.com/10.1002/ajmg.c.30017
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http://dx.doi.org/10.1002/ajmg.c.30017DOI Listing
August 2004

Simple and complex genetics of colorectal cancer susceptibility.

Am J Med Genet C Semin Med Genet 2004 Aug;129C(1):35-43

Section of Medical Genetics, Dept. of Clinical Pathophysiology, University of Florence, Viale G. Pieraccini 6, 50139 Florence, Italy.

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http://dx.doi.org/10.1002/ajmg.c.30023DOI Listing
August 2004

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

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

BRCA1-related malignancies in a family presenting with von Recklinghausen's disease.

Gynecol Oncol 2002 Sep;86(3):375-8

Department of Obstetrics and Gynecology, Catholic University of the Sacred Heart, Largo E. Gemelli 8, 00168 Rome, Italy.

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September 2002