Publications by authors named "Emanuela Lucci-Cordisco"

29Publications

Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature.

Eur J Med Genet 2020 Nov 19;63(11):104042. Epub 2020 Aug 19.

J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC, USA; Clemson University School of Health Research, Clemson, SC, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2020.104042DOI Listing
November 2020

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

Fam Cancer 2019 10;18(4):421-427

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

Orbital Desmoid-Type Fibromatosis: A Case Report and Literature Review.

Case Rep Oncol Med 2018 8;2018:1684763. Epub 2018 Mar 8.

Department of Oral and Maxillofacial Surgery, Catholic University of the Sacred Heart Medical School, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2018/1684763DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863316PMC
March 2018

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.

View Article

Download full-text PDF

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

Three unrelated patients with congenital anterior pituitary aplasia and a characteristic physical and neuropsychological phenotype: a new syndrome?

Am J Med Genet A 2012 Nov 17;158A(11):2750-5. Epub 2012 Sep 17.

Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Rome, Italy.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.35579
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.35579DOI Listing
November 2012

Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic individual with ambiguous genitalia.

Int J Gynecol Pathol 2010 Jan;29(1):33-8

Department of Pathology, Faculty of Medicine A. Gemelli, Catholic University of the Sacred Heart, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/PGP.0b013e3181b52e75DOI Listing
January 2010

Silent beginning: early silencing of the MED1/MBD4 gene in colorectal tumorigenesis.

Cancer Biol Ther 2009 Jan 15;8(2):192-3. Epub 2009 Feb 15.

Catholic University of Rome, Institute of Medical Genetics, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4161/cbt.8.2.7647DOI Listing
January 2009

Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas.

J Invest Dermatol 2006 Oct 6;126(10):2302-7. Epub 2006 Jul 6.

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

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S0022202X1532638
Publisher Site
http://dx.doi.org/10.1038/sj.jid.5700475DOI Listing
October 2006

Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.

Am J Gastroenterol 2005 Aug;100(8):1886-91

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1572-0241.2005.50441.xDOI Listing
August 2005

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1006/gyno.2002.6757DOI Listing
September 2002