Maria Isabel Tejada

Maria Isabel Tejada

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Maria Isabel Tejada

Maria Isabel Tejada

Publications by authors named "Maria Isabel Tejada"

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A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism.

Clin Genet 2019 Feb 20;95(2):339-340. Epub 2018 Nov 20.

Department of Paediatric Neurology, Araba University Hospital, Vitoria-Gasteiz, Spain.

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http://dx.doi.org/10.1111/cge.13466DOI Listing
February 2019

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.

Authors:
Roger L Milne Karoline B Kuchenbaecker Kyriaki Michailidou Jonathan Beesley Siddhartha Kar Sara Lindström Shirley Hui Audrey Lemaçon Penny Soucy Joe Dennis Xia Jiang Asha Rostamianfar Hilary Finucane Manjeet K Bolla Lesley McGuffog Qin Wang Cora M Aalfs Marcia Adams Julian Adlard Simona Agata Shahana Ahmed Habibul Ahsan Kristiina Aittomäki Fares Al-Ejeh Jamie Allen Christine B Ambrosone Christopher I Amos Irene L Andrulis Hoda Anton-Culver Natalia N Antonenkova Volker Arndt Norbert Arnold Kristan J Aronson Bernd Auber Paul L Auer Margreet G E M Ausems Jacopo Azzollini François Bacot Judith Balmaña Monica Barile Laure Barjhoux Rosa B Barkardottir Myrto Barrdahl Daniel Barnes Daniel Barrowdale Caroline Baynes Matthias W Beckmann Javier Benitez Marina Bermisheva Leslie Bernstein Yves-Jean Bignon Kathleen R Blazer Marinus J Blok Carl Blomqvist William Blot Kristie Bobolis Bram Boeckx Natalia V Bogdanova Anders Bojesen Stig E Bojesen Bernardo Bonanni Anne-Lise Børresen-Dale Aniko Bozsik Angela R Bradbury Judith S Brand Hiltrud Brauch Hermann Brenner Brigitte Bressac-de Paillerets Carole Brewer Louise Brinton Per Broberg Angela Brooks-Wilson Joan Brunet Thomas Brüning Barbara Burwinkel Saundra S Buys Jinyoung Byun Qiuyin Cai Trinidad Caldés Maria A Caligo Ian Campbell Federico Canzian Olivier Caron Angel Carracedo Brian D Carter J Esteban Castelao Laurent Castera Virginie Caux-Moncoutier Salina B Chan Jenny Chang-Claude Stephen J Chanock Xiaoqing Chen Ting-Yuan David Cheng Jocelyne Chiquette Hans Christiansen Kathleen B M Claes Christine L Clarke Thomas Conner Don M Conroy Jackie Cook Emilie Cordina-Duverger Sten Cornelissen Isabelle Coupier Angela Cox David G Cox Simon S Cross Katarina Cuk Julie M Cunningham Kamila Czene Mary B Daly Francesca Damiola Hatef Darabi Rosemarie Davidson Kim De Leeneer Peter Devilee Ed Dicks Orland Diez Yuan Chun Ding Nina Ditsch Kimberly F Doheny Susan M Domchek Cecilia M Dorfling Thilo Dörk Isabel Dos-Santos-Silva Stéphane Dubois Pierre-Antoine Dugué Martine Dumont Alison M Dunning Lorraine Durcan Miriam Dwek Bernd Dworniczak Diana Eccles Ros Eeles Hans Ehrencrona Ursula Eilber Bent Ejlertsen Arif B Ekici A Heather Eliassen Christoph Engel Mikael Eriksson Laura Fachal Laurence Faivre Peter A Fasching Ulrike Faust Jonine Figueroa Dieter Flesch-Janys Olivia Fletcher Henrik Flyger William D Foulkes Eitan Friedman Lin Fritschi Debra Frost Marike Gabrielson Pragna Gaddam Marilie D Gammon Patricia A Ganz Susan M Gapstur Judy Garber Vanesa Garcia-Barberan José A García-Sáenz Mia M Gaudet Marion Gauthier-Villars Andrea Gehrig Vassilios Georgoulias Anne-Marie Gerdes Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Paul Goodfellow Mark H Greene Grethe I Grenaker Alnæs Mervi Grip Jacek Gronwald Anne Grundy Daphne Gschwantler-Kaulich Pascal Guénel Qi Guo Lothar Haeberle Eric Hahnen Christopher A Haiman Niclas Håkansson Emily Hallberg Ute Hamann Nathalie Hamel Susan Hankinson Thomas V O Hansen Patricia Harrington Steven N Hart Jaana M Hartikainen Catherine S Healey Alexander Hein Sonja Helbig Alex Henderson Jane Heyworth Belynda Hicks Peter Hillemanns Shirley Hodgson Frans B Hogervorst Antoinette Hollestelle Maartje J Hooning Bob Hoover John L Hopper Chunling Hu Guanmengqian Huang Peter J Hulick Keith Humphreys David J Hunter Evgeny N Imyanitov Claudine Isaacs Motoki Iwasaki Louise Izatt Anna Jakubowska Paul James Ramunas Janavicius Wolfgang Janni Uffe Birk Jensen Esther M John Nichola Johnson Kristine Jones Michael Jones Arja Jukkola-Vuorinen Rudolf Kaaks Maria Kabisch Katarzyna Kaczmarek Daehee Kang Karin Kast Renske Keeman Michael J Kerin Carolien M Kets Machteld Keupers Sofia Khan Elza Khusnutdinova Johanna I Kiiski Sung-Won Kim Julia A Knight Irene Konstantopoulou Veli-Matti Kosma Vessela N Kristensen Torben A Kruse Ava Kwong Anne-Vibeke Lænkholm Yael Laitman Fiona Lalloo Diether Lambrechts Keren Landsman Christine Lasset Conxi Lazaro Loic Le Marchand Julie Lecarpentier Andrew Lee Eunjung Lee Jong Won Lee Min Hyuk Lee Flavio Lejbkowicz Fabienne Lesueur Jingmei Li Jenna Lilyquist Anne Lincoln Annika Lindblom Jolanta Lissowska Wing-Yee Lo Sibylle Loibl Jirong Long Jennifer T Loud Jan Lubinski Craig Luccarini Michael Lush Robert J MacInnis Tom Maishman Enes Makalic Ivana Maleva Kostovska Kathleen E Malone Siranoush Manoukian JoAnn E Manson Sara Margolin John W M Martens Maria Elena Martinez Keitaro Matsuo Dimitrios Mavroudis Sylvie Mazoyer Catriona McLean Hanne Meijers-Heijboer Primitiva Menéndez Jeffery Meyer Hui Miao Austin Miller Nicola Miller Gillian Mitchell Marco Montagna Kenneth Muir Anna Marie Mulligan Claire Mulot Sue Nadesan Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Ines Nevelsteen Dieter Niederacher Sune F Nielsen Børge G Nordestgaard Aaron Norman Robert L Nussbaum Edith Olah Olufunmilayo I Olopade Janet E Olson Curtis Olswold Kai-Ren Ong Jan C Oosterwijk Nick Orr Ana Osorio V Shane Pankratz Laura Papi Tjoung-Won Park-Simon Ylva Paulsson-Karlsson Rachel Lloyd Inge Søkilde Pedersen Bernard Peissel Ana Peixoto Jose I A Perez Paolo Peterlongo Julian Peto Georg Pfeiler Catherine M Phelan Mila Pinchev Dijana Plaseska-Karanfilska Bruce Poppe Mary E Porteous Ross Prentice Nadege Presneau Darya Prokofieva Elizabeth Pugh Miquel Angel Pujana Katri Pylkäs Brigitte Rack Paolo Radice Nazneen Rahman Johanna Rantala Christine Rappaport-Fuerhauser Gad Rennert Hedy S Rennert Valerie Rhenius Kerstin Rhiem Andrea Richardson Gustavo C Rodriguez Atocha Romero Jane Romm Matti A Rookus Anja Rudolph Thomas Ruediger Emmanouil Saloustros Joyce Sanders Dale P Sandler Suleeporn Sangrajrang Elinor J Sawyer Daniel F Schmidt Minouk J Schoemaker Fredrick Schumacher Peter Schürmann Lukas Schwentner Christopher Scott Rodney J Scott Sheila Seal Leigha Senter Caroline Seynaeve Mitul Shah Priyanka Sharma Chen-Yang Shen Xin Sheng Hermela Shimelis Martha J Shrubsole Xiao-Ou Shu Lucy E Side Christian F Singer Christof Sohn Melissa C Southey John J Spinelli Amanda B Spurdle Christa Stegmaier Dominique Stoppa-Lyonnet Grzegorz Sukiennicki Harald Surowy Christian Sutter Anthony Swerdlow Csilla I Szabo Rulla M Tamimi Yen Y Tan Jack A Taylor Maria-Isabel Tejada Maria Tengström Soo H Teo Mary B Terry Daniel C Tessier Alex Teulé Kathrin Thöne Darcy L Thull Maria Grazia Tibiletti Laima Tihomirova Marc Tischkowitz Amanda E Toland Rob A E M Tollenaar Ian Tomlinson Ling Tong Diana Torres Martine Tranchant Thérèse Truong Kathy Tucker Nadine Tung Jonathan Tyrer Hans-Ulrich Ulmer Celine Vachon Christi J van Asperen David Van Den Berg Ans M W van den Ouweland Elizabeth J van Rensburg Liliana Varesco Raymonda Varon-Mateeva Ana Vega Alessandra Viel Joseph Vijai Daniel Vincent Jason Vollenweider Lisa Walker Zhaoming Wang Shan Wang-Gohrke Barbara Wappenschmidt Clarice R Weinberg Jeffrey N Weitzel Camilla Wendt Jelle Wesseling Alice S Whittemore Juul T Wijnen Walter Willett Robert Winqvist Alicja Wolk Anna H Wu Lucy Xia Xiaohong R Yang Drakoulis Yannoukakos Daniela Zaffaroni Wei Zheng Bin Zhu Argyrios Ziogas Elad Ziv Kristin K Zorn Manuela Gago-Dominguez Arto Mannermaa Håkan Olsson Manuel R Teixeira Jennifer Stone Kenneth Offit Laura Ottini Sue K Park Mads Thomassen Per Hall Alfons Meindl Rita K Schmutzler Arnaud Droit Gary D Bader Paul D P Pharoah Fergus J Couch Douglas F Easton Peter Kraft Georgia Chenevix-Trench Montserrat García-Closas Marjanka K Schmidt Antonis C Antoniou Jacques Simard

Nat Genet 2017 Dec 23;49(12):1767-1778. Epub 2017 Oct 23.

Genomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University, Québec City, Québec, Canada.

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http://dx.doi.org/10.1038/ng.3785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808456PMC
December 2017

Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer.

Oncology 2016 12;91(3):171-6. Epub 2016 Jul 12.

Laboratorio de Genética Molecular, Servicio de Genética, BioCruces Health Research Institute, Barakaldo, Spain.

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http://dx.doi.org/10.1159/000447972DOI Listing
January 2017

Associated Clinical Disorders Diagnosed by Medical Specialists in 188 FMR1 Premutation Carriers Found in the Last 25 Years in the Spanish Basque Country: A Retrospective Study.

Genes (Basel) 2016 Oct 21;7(10). Epub 2016 Oct 21.

Molecular Genetics Laboratory, Genetics Service, BioCruces Health Research Institute, Cruces University Hospital, 48903-Barakaldo-Bizkaia, Spain.

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http://dx.doi.org/10.3390/genes7100090DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5083929PMC
October 2016

3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases.

Case Rep Genet 2015 14;2015:876348. Epub 2015 May 14.

GCV-CIBER de Enfermedades Raras (CIBERER-ISCIII), 28029 Madrid, Spain ; Laboratorio de Genética Molecular, Servicio de Genética, IIS BioCruces, Hospital Universitario Cruces, Barakaldo, 48903 Bizkaia, Spain.

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http://www.hindawi.com/journals/crig/2015/876348/
Publisher Site
http://dx.doi.org/10.1155/2015/876348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4446465PMC
June 2015

L-acetylcarnitine for treating fragile X syndrome.

Cochrane Database Syst Rev 2015 May 19(5):CD010012. Epub 2015 May 19.

Department of Preventive Medicine and Public Health, University of the Basque Country, Barrio Sarriena, S.N., Leioa, Bizkaia, Spain, E-48080.

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http://doi.wiley.com/10.1002/14651858.CD010012.pub2
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http://dx.doi.org/10.1002/14651858.CD010012.pub2DOI Listing
May 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

Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI).

J Neurodev Disord 2014 13;6(1):26. Epub 2014 Aug 13.

Laboratory of Molecular and Cellular Biology, NIDDK, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1186/1866-1955-6-26DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4139715PMC
August 2014

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.

Authors:
Susan J Ramus Antonis C Antoniou Karoline B Kuchenbaecker Penny Soucy Jonathan Beesley Xiaoqing Chen Lesley McGuffog Olga M Sinilnikova Sue Healey Daniel Barrowdale Andrew Lee Mads Thomassen Anne-Marie Gerdes Torben A Kruse Uffe Birk Jensen Anne-Bine Skytte Maria A Caligo Annelie Liljegren Annika Lindblom Håkan Olsson Ulf Kristoffersson Marie Stenmark-Askmalm Beatrice Melin Susan M Domchek Katherine L Nathanson Timothy R Rebbeck Anna Jakubowska Jan Lubinski Katarzyna Jaworska Katarzyna Durda Elżbieta Złowocka Jacek Gronwald Tomasz Huzarski Tomasz Byrski Cezary Cybulski Aleksandra Toloczko-Grabarek Ana Osorio Javier Benitez Mercedes Duran Maria-Isabel Tejada Ute Hamann Matti Rookus Flora E van Leeuwen Cora M Aalfs Hanne E J Meijers-Heijboer Christi J van Asperen K E P van Roozendaal Nicoline Hoogerbrugge J Margriet Collée Mieke Kriege Rob B van der Luijt Susan Peock Debra Frost Steve D Ellis Radka Platte Elena Fineberg D Gareth Evans Fiona Lalloo Chris Jacobs Ros Eeles Julian Adlard Rosemarie Davidson Diana Eccles Trevor Cole Jackie Cook Joan Paterson Fiona Douglas Carole Brewer Shirley Hodgson Patrick J Morrison Lisa Walker Mary E Porteous M John Kennedy Harsh Pathak Andrew K Godwin Dominique Stoppa-Lyonnet Virginie Caux-Moncoutier Antoine de Pauw Marion Gauthier-Villars Sylvie Mazoyer Mélanie Léoné Alain Calender Christine Lasset Valérie Bonadona Agnès Hardouin Pascaline Berthet Yves-Jean Bignon Nancy Uhrhammer Laurence Faivre Catherine Loustalot Saundra Buys Mary Daly Alex Miron Mary Beth Terry Wendy K Chung Esther M John Melissa Southey David Goldgar Christian F Singer Muy-Kheng Tea Georg Pfeiler Anneliese Fink-Retter Thomas v O Hansen Bent Ejlertsen Oskar Th Johannsson Kenneth Offit Tomas Kirchhoff Mia M Gaudet Joseph Vijai Mark Robson Marion Piedmonte Kelly-Anne Phillips Linda Van Le James S Hoffman Amanda Ewart Toland Marco Montagna Silvia Tognazzo Evgeny Imyanitov Claudine Issacs Ramunas Janavicius Conxi Lazaro Iganacio Blanco Eva Tornero Matilde Navarro Kirsten B Moysich Beth Y Karlan Jenny Gross Edith Olah Tibor Vaszko Soo-Hwang Teo Patricia A Ganz Mary S Beattie Cecelia M Dorfling Elizabeth J van Rensburg Orland Diez Ava Kwong Rita K Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Simone Heidemann Dieter Niederacher Sabine Preisler-Adams Dorotehea Gadzicki Raymonda Varon-Mateeva Helmut Deissler Andrea Gehrig Christian Sutter Karin Kast Britta Fiebig Dieter Schäfer Trinidad Caldes Miguel de la Hoya Heli Nevanlinna Kristiina Aittomäki Marie Plante Amanda B Spurdle Susan L Neuhausen Yuan Chun Ding Xianshu Wang Noralane Lindor Zachary Fredericksen V Shane Pankratz Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Bernardo Bonanni Loris Bernard Riccardo Dolcetti Laura Papi Laura Ottini Paolo Radice Mark H Greene Phuong L Mai Irene L Andrulis Gord Glendon Hilmi Ozcelik Paul D P Pharoah Simon A Gayther Jacques Simard Douglas F Easton Fergus J Couch Georgia Chenevix-Trench

Hum Mutat 2012 Apr 14;33(4):690-702. Epub 2012 Feb 14.

Department of Preventive Medicine, Keck School of Medicine, University of Southern California, California, USA.

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http://dx.doi.org/10.1002/humu.22025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3458423PMC
April 2012

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

Authors:
Fergus J Couch Mia M Gaudet Antonis C Antoniou Susan J Ramus Karoline B Kuchenbaecker Penny Soucy Jonathan Beesley Xiaoqing Chen Xianshu Wang Tomas Kirchhoff Lesley McGuffog Daniel Barrowdale Andrew Lee Sue Healey Olga M Sinilnikova Irene L Andrulis Hilmi Ozcelik Anna Marie Mulligan Mads Thomassen Anne-Marie Gerdes Uffe Birk Jensen Anne-Bine Skytte Torben A Kruse Maria A Caligo Anna von Wachenfeldt Gisela Barbany-Bustinza Niklas Loman Maria Soller Hans Ehrencrona Per Karlsson Katherine L Nathanson Timothy R Rebbeck Susan M Domchek Ania Jakubowska Jan Lubinski Katarzyna Jaworska Katarzyna Durda Elzbieta Zlowocka Tomasz Huzarski Tomasz Byrski Jacek Gronwald Cezary Cybulski Bohdan Górski Ana Osorio Mercedes Durán María Isabel Tejada Javier Benitez Ute Hamann Frans B L Hogervorst Theo A van Os Flora E van Leeuwen Hanne E J Meijers-Heijboer Juul Wijnen Marinus J Blok Marleen Kets Maartje J Hooning Rogier A Oldenburg Margreet G E M Ausems Susan Peock Debra Frost Steve D Ellis Radka Platte Elena Fineberg D Gareth Evans Chris Jacobs Rosalind A Eeles Julian Adlard Rosemarie Davidson Diana M Eccles Trevor Cole Jackie Cook Joan Paterson Carole Brewer Fiona Douglas Shirley V Hodgson Patrick J Morrison Lisa Walker Mary E Porteous M John Kennedy Lucy E Side Betsy Bove Andrew K Godwin Dominique Stoppa-Lyonnet Marion Fassy-Colcombet Laurent Castera François Cornelis Sylvie Mazoyer Mélanie Léoné Nadia Boutry-Kryza Brigitte Bressac-de Paillerets Olivier Caron Pascal Pujol Isabelle Coupier Capucine Delnatte Linda Akloul Henry T Lynch Carrie L Snyder Saundra S Buys Mary B Daly Marybeth Terry Wendy K Chung Esther M John Alexander Miron Melissa C Southey John L Hopper David E Goldgar Christian F Singer Christine Rappaport Muy-Kheng M Tea Anneliese Fink-Retter Thomas V O Hansen Finn C Nielsen Aðalgeir Arason Joseph Vijai Sohela Shah Kara Sarrel Mark E Robson Marion Piedmonte Kelly Phillips Jack Basil Wendy S Rubinstein John Boggess Katie Wakeley Amanda Ewart-Toland Marco Montagna Simona Agata Evgeny N Imyanitov Claudine Isaacs Ramunas Janavicius Conxi Lazaro Ignacio Blanco Lidia Feliubadalo Joan Brunet Simon A Gayther Paul P D Pharoah Kunle O Odunsi Beth Y Karlan Christine S Walsh Edith Olah Soo Hwang Teo Patricia A Ganz Mary S Beattie Elizabeth J van Rensburg Cecelia M Dorfling Orland Diez Ava Kwong Rita K Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Simone Heidemann Dieter Niederacher Sabine Preisler-Adams Dorothea Gadzicki Raymonda Varon-Mateeva Helmut Deissler Andrea Gehrig Christian Sutter Karin Kast Britta Fiebig Wolfram Heinritz Trinidad Caldes Miguel de la Hoya Taru A Muranen Heli Nevanlinna Marc D Tischkowitz Amanda B Spurdle Susan L Neuhausen Yuan Chun Ding Noralane M Lindor Zachary Fredericksen V Shane Pankratz Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Monica Barile Loris Bernard Alessandra Viel Giuseppe Giannini Liliana Varesco Paolo Radice Mark H Greene Phuong L Mai Douglas F Easton Georgia Chenevix-Trench Kenneth Offit Jacques Simard

Cancer Epidemiol Biomarkers Prev 2012 Apr 20;21(4):645-57. Epub 2012 Feb 20.

Departments of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1158/1055-9965.EPI-11-0888DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319317PMC
April 2012

A child with mild X-linked intellectual disability and a microduplication at Xp22.12 including RPS6KA3.

Pediatrics 2011 Oct 19;128(4):e1029-33. Epub 2011 Sep 19.

Molecular Genetics Laboratory, Department of Biochemistry, Cruces Hospital, 48903 Barakaldo, Bizkaia, Spain.

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http://dx.doi.org/10.1542/peds.2010-0388DOI Listing
October 2011

Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.

Eur J Hum Genet 2011 Aug 23;19(8):921-3. Epub 2011 Mar 23.

CIBER de Enfermedades Raras and Biochemistry and Molecular Genetics Department, Hospital Clínic, Barcelona, Spain.

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http://dx.doi.org/10.1038/ejhg.2011.41DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3172924PMC
August 2011

Folic acid for fragile X syndrome.

Cochrane Database Syst Rev 2011 May 11(5):CD008476. Epub 2011 May 11.

Department of Preventive Medicine and Public Health, University of the Basque Country, GIU 10/24, Barrio Sarriena S/N, Leioa, Bizkaia, Spain, 48940.

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http://dx.doi.org/10.1002/14651858.CD008476.pub2DOI Listing
May 2011

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers.

Authors:
Susan J Ramus Christiana Kartsonaki Simon A Gayther Paul D P Pharoah Olga M Sinilnikova Jonathan Beesley Xiaoqing Chen Lesley McGuffog Sue Healey Fergus J Couch Xianshu Wang Zachary Fredericksen Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Gaia Roversi Monica Barile Alessandra Viel Anna Allavena Laura Ottini Laura Papi Viviana Gismondi Fabio Capra Paolo Radice Mark H Greene Phuong L Mai Irene L Andrulis Gord Glendon Hilmi Ozcelik Mads Thomassen Anne-Marie Gerdes Torben A Kruse Dorthe Cruger Uffe Birk Jensen Maria Adelaide Caligo Håkan Olsson Ulf Kristoffersson Annika Lindblom Brita Arver Per Karlsson Marie Stenmark Askmalm Ake Borg Susan L Neuhausen Yuan Chun Ding Katherine L Nathanson Susan M Domchek Anna Jakubowska Jan Lubiński Tomasz Huzarski Tomasz Byrski Jacek Gronwald Bohdan Górski Cezary Cybulski Tadeusz Dębniak Ana Osorio Mercedes Durán Maria-Isabel Tejada Javier Benítez Ute Hamann Matti A Rookus Senno Verhoef Madeleine A Tilanus-Linthorst Maaike P Vreeswijk Danielle Bodmer Margreet G E M Ausems Theo A van Os Christi J Asperen Marinus J Blok Hanne E J Meijers-Heijboer Susan Peock Margaret Cook Clare Oliver Debra Frost Alison M Dunning D Gareth Evans Ros Eeles Gabriella Pichert Trevor Cole Shirley Hodgson Carole Brewer Patrick J Morrison Mary Porteous M John Kennedy Mark T Rogers Lucy E Side Alan Donaldson Helen Gregory Andrew Godwin Dominique Stoppa-Lyonnet Virginie Moncoutier Laurent Castera Sylvie Mazoyer Laure Barjhoux Valérie Bonadona Dominique Leroux Laurence Faivre Rosette Lidereau Catherine Nogues Yves-Jean Bignon Fabienne Prieur Marie-Agnès Collonge-Rame Laurence Venat-Bouvet Sandra Fert-Ferrer Alex Miron Saundra S Buys John L Hopper Mary B Daly Esther M John Mary Beth Terry David Goldgar Thomas v O Hansen Lars Jønson Bent Ejlertsen Bjarni A Agnarsson Kenneth Offit Tomas Kirchhoff Joseph Vijai Ana V C Dutra-Clarke Jennifer A Przybylo Marco Montagna Cinzia Casella Evgeny N Imyanitov Ramunas Janavicius Ignacio Blanco Conxi Lázaro Kirsten B Moysich Beth Y Karlan Jenny Gross Mary S Beattie Rita Schmutzler Barbara Wappenschmidt Alfons Meindl Ina Ruehl Britta Fiebig Christian Sutter Norbert Arnold Helmut Deissler Raymonda Varon-Mateeva Karin Kast Dieter Niederacher Dorothea Gadzicki Trinidad Caldes Miguel de la Hoya Heli Nevanlinna Kristiina Aittomäki Jacques Simard Penny Soucy Amanda B Spurdle Helene Holland Georgia Chenevix-Trench Douglas F Easton Antonis C Antoniou

J Natl Cancer Inst 2011 Jan 17;103(2):105-16. Epub 2010 Dec 17.

Department of Gynaecological Oncology, UCL EGA Institute for Women's Health, University College London, London, UK.

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http://dx.doi.org/10.1093/jnci/djq494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3107565PMC
January 2011

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction.

Authors:
Antonis C Antoniou Jonathan Beesley Lesley McGuffog Olga M Sinilnikova Sue Healey Susan L Neuhausen Yuan Chun Ding Timothy R Rebbeck Jeffrey N Weitzel Henry T Lynch Claudine Isaacs Patricia A Ganz Gail Tomlinson Olufunmilayo I Olopade Fergus J Couch Xianshu Wang Noralane M Lindor Vernon S Pankratz Paolo Radice Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Monica Barile Alessandra Viel Anna Allavena Valentina Dall'Olio Paolo Peterlongo Csilla I Szabo Michal Zikan Kathleen Claes Bruce Poppe Lenka Foretova Phuong L Mai Mark H Greene Gad Rennert Flavio Lejbkowicz Gord Glendon Hilmi Ozcelik Irene L Andrulis Mads Thomassen Anne-Marie Gerdes Lone Sunde Dorthe Cruger Uffe Birk Jensen Maria Caligo Eitan Friedman Bella Kaufman Yael Laitman Roni Milgrom Maya Dubrovsky Shimrit Cohen Ake Borg Helena Jernström Annika Lindblom Johanna Rantala Marie Stenmark-Askmalm Beatrice Melin Kate Nathanson Susan Domchek Ania Jakubowska Jan Lubinski Tomasz Huzarski Ana Osorio Adriana Lasa Mercedes Durán Maria-Isabel Tejada Javier Godino Javier Benitez Ute Hamann Mieke Kriege Nicoline Hoogerbrugge Rob B van der Luijt Christi J van Asperen Peter Devilee E J Meijers-Heijboer Marinus J Blok Cora M Aalfs Frans Hogervorst Matti Rookus Margaret Cook Clare Oliver Debra Frost Don Conroy D Gareth Evans Fiona Lalloo Gabriella Pichert Rosemarie Davidson Trevor Cole Jackie Cook Joan Paterson Shirley Hodgson Patrick J Morrison Mary E Porteous Lisa Walker M John Kennedy Huw Dorkins Susan Peock Andrew K Godwin Dominique Stoppa-Lyonnet Antoine de Pauw Sylvie Mazoyer Valérie Bonadona Christine Lasset Hélène Dreyfus Dominique Leroux Agnès Hardouin Pascaline Berthet Laurence Faivre Catherine Loustalot Tetsuro Noguchi Hagay Sobol Etienne Rouleau Catherine Nogues Marc Frénay Laurence Vénat-Bouvet John L Hopper Mary B Daly Mary B Terry Esther M John Saundra S Buys Yosuf Yassin Alexander Miron David Goldgar Christian F Singer Anne Catharina Dressler Daphne Gschwantler-Kaulich Georg Pfeiler Thomas V O Hansen Lars Jønson Bjarni A Agnarsson Tomas Kirchhoff Kenneth Offit Vincent Devlin Ana Dutra-Clarke Marion Piedmonte Gustavo C Rodriguez Katie Wakeley John F Boggess Jack Basil Peter E Schwartz Stephanie V Blank Amanda Ewart Toland Marco Montagna Cinzia Casella Evgeny Imyanitov Laima Tihomirova Ignacio Blanco Conxi Lazaro Susan J Ramus Lara Sucheston Beth Y Karlan Jenny Gross Rita Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Magdalena Lochmann Norbert Arnold Simone Heidemann Raymonda Varon-Mateeva Dieter Niederacher Christian Sutter Helmut Deissler Dorothea Gadzicki Sabine Preisler-Adams Karin Kast Ines Schönbuchner Trinidad Caldes Miguel de la Hoya Kristiina Aittomäki Heli Nevanlinna Jacques Simard Amanda B Spurdle Helene Holland Xiaoqing Chen Radka Platte Georgia Chenevix-Trench Douglas F Easton

Cancer Res 2010 Dec 30;70(23):9742-54. Epub 2010 Nov 30.

Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1158/0008-5472.CAN-10-1907DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2999830PMC
December 2010

Breast and ovarian cancer risk evaluation in families with a disease-causing mutation in BRCA1/2.

J Community Genet 2010 Jun 9;1(2):91-9. Epub 2010 Aug 9.

Molecular Genetics Laboratory, Biochemistry Department, Hospital de Cruces, Plaza de Cruces s/n, 48903, Barakaldo, Bizkaia, Spain,

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http://dx.doi.org/10.1007/s12687-010-0014-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3185985PMC
June 2010

Systematic review of pharmacological treatments in fragile X syndrome.

BMC Neurol 2009 Oct 13;9:53. Epub 2009 Oct 13.

Department of Preventive Medicine and Public Health, University of the Basque Country, Barrio Sarriena S/N, Leioa 48940, Spain.

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http://dx.doi.org/10.1186/1471-2377-9-53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770029PMC
October 2009