Irene López-Perolio

Irene López-Perolio

UNVERIFIED PROFILE

Are you Irene López-Perolio?   Register this Author

Register author
Irene López-Perolio

Irene López-Perolio

Publications by authors named "Irene López-Perolio"

Are you Irene López-Perolio?   Register this Author

9Publications

324Reads

18Profile Views

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.

Authors:
Mara Colombo Irene Lòpez-Perolio Huong D Meeks Laura Caleca Michael T Parsons Hongyan Li Giovanna De Vecchi Emma Tudini Claudia Foglia Patrizia Mondini Siranoush Manoukian Raquel Behar Encarna B Gómez Garcia Alfons Meindl Marco Montagna Dieter Niederacher Ane Y Schmidt Liliana Varesco Barbara Wappenschmidt Manjeet K Bolla Joe Dennis Kyriaki Michailidou Qin Wang Kristiina Aittomäki Irene L Andrulis Hoda Anton-Culver Volker Arndt Matthias W Beckmann Alicia Beeghly-Fadel Javier Benitez Bram Boeckx Natalia V Bogdanova Stig E Bojesen Bernardo Bonanni Hiltrud Brauch Hermann Brenner Barbara Burwinkel Jenny Chang-Claude Don M Conroy Fergus J Couch Angela Cox Simon S Cross Kamila Czene Peter Devilee Thilo Dörk Mikael Eriksson Peter A Fasching Jonine Figueroa Olivia Fletcher Henrik Flyger Marike Gabrielson Montserrat García-Closas Graham G Giles Anna González-Neira Pascal Guénel Christopher A Haiman Per Hall Ute Hamann Mikael Hartman Jan Hauke Antoinette Hollestelle John L Hopper Anna Jakubowska Audrey Jung Veli-Matti Kosma Diether Lambrechts Loid Le Marchand Annika Lindblom Jan Lubinski Arto Mannermaa Sara Margolin Hui Miao Roger L Milne Susan L Neuhausen Heli Nevanlinna Janet E Olson Paolo Peterlongo Julian Peto Katri Pylkäs Elinor J Sawyer Marjanka K Schmidt Rita K Schmutzler Andreas Schneeweiss Minouk J Schoemaker Mee Hoong See Melissa C Southey Anthony Swerdlow Soo H Teo Amanda E Toland Ian Tomlinson Thérèse Truong Christi J van Asperen Ans M W van den Ouweland Lizet E van der Kolk Robert Winqvist Drakoulis Yannoukakos Wei Zheng Alison M Dunning Douglas F Easton Alex Henderson Frans B L Hogervorst Louise Izatt Kenneth Offitt Lucy E Side Elizabeth J van Rensburg Study Embrace Study Hebon Lesley McGuffog Antonis C Antoniou Georgia Chenevix-Trench Amanda B Spurdle David E Goldgar Miguel de la Hoya Paolo Radice

Hum Mutat 2018 05 6;39(5):729-741. Epub 2018 Apr 6.

Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23411DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5947288PMC
May 2018

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.

Hum Mol Genet 2016 06 23;25(11):2256-2268. Epub 2016 Mar 23.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia

View Article

Download full-text PDF

Source
http://hmg.oxfordjournals.org/content/early/2016/03/23/hmg.d
Web Search
http://www.hmg.oxfordjournals.org/lookup/doi/10.1093/hmg/ddw
Publisher Site
http://dx.doi.org/10.1093/hmg/ddw094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5081057PMC
June 2016

Application of bacteriophages in sensor development.

Anal Bioanal Chem 2016 Mar 15;408(7):1805-28. Epub 2015 Oct 15.

Departamento de Química Analítica, Facultad de CC. Químicas, Universidad Complutense de Madrid, 28040, Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00216-015-9087-2DOI Listing
March 2016

BRCA1 Alternative splicing landscape in breast tissue samples.

BMC Cancer 2015 Apr 3;15:219. Epub 2015 Apr 3.

Molecular Oncology Laboratoy, Instituto de Investigación Sanitaria San Carlos. Center affiliated to the Red Temática de Investigación Cooperativa (RD12/0036/006), Instituto Carlos III, Spanish Ministry of Economy and Competitivy, 28040, Madrid, Spain.

View Article

Download full-text PDF

Source
http://bmccancer.biomedcentral.com/articles/10.1186/s12885-0
Publisher Site
http://dx.doi.org/10.1186/s12885-015-1145-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4393587PMC
April 2015