Rachel Laframboise

Rachel Laframboise

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Rachel Laframboise

Rachel Laframboise

Publications by authors named "Rachel Laframboise"

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Association of bifid epiglottis and laryngeal web with Bardet-Biedl syndrome: A case report.

Int J Pediatr Otorhinolaryngol 2019 Jul 17;122:138-140. Epub 2019 Apr 17.

Department of Otolaryngology - Head and Neck Surgery, CHU de Québec- Centre Hospitalier Universitaire de Québec, Quebec City, QC, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2019.04.019DOI Listing
July 2019

Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient alleles.

Mol Genet Metab Rep 2018 Mar 27;14:55-58. Epub 2017 Dec 27.

Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.

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http://dx.doi.org/10.1016/j.ymgmr.2017.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758842PMC
March 2018

Musculo-mucous web velum and velopharyngeal dysfunction associated with 8q22.1-22.2 microduplication.

Int J Pediatr Otorhinolaryngol 2018 Jan 16;104:134-137. Epub 2017 Nov 16.

Department of Otolaryngology - Head & Neck Surgery, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2017.11.013DOI Listing
January 2018

Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency.

J Med Genet 2017 04 22;54(4):241-247. Epub 2016 Nov 22.

Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montréal, Québec, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2016-104289DOI Listing
April 2017

Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency.

J Clin Oncol 2016 07 21;34(19):2206-11. Epub 2016 Mar 21.

Eric Bouffet, Brittany B. Campbell, Daniele Merico, Richard de Borja, Carol Durno, Joerg Krueger, Vanja Cabric, Vijay Ramaswamy, Nataliya Zhukova, Peter Dirks, Michael Taylor, David Malkin, Cynthia E. Hawkins, Adam Shlien, and Uri Tabori, The Hospital for Sick Children, Toronto; Melyssa Aronson, and Zane Cohen, Zane Cohen Centre for Digestive Diseases, Mount Sinai, Ontario; Valérie Larouche and Rachel Laframboise, Université Laval, Quebec City; Jeffrey Atkinson, Montreal Children's Hospital; Steffen Albrecht, Roy W.R. Dudley, and Nada Jabado, McGill University, Montreal, Montreal, Quebec; Samina Afzal, IWK Health Centre, Halifax, Nova Scotia; Vanan Magimairajan, Cancer Care Manitoba and University of Manitoba, Winnipeg, Manitoba, Canada; Gary Mason, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA; Roula Farah, Saint George Hospital University Medical Center, Beirut, Lebanon; Michal Yalon and Gideon Rechavi, Sheba Medical Center, Tel Hashomer; Shlomi Constantini, Rina Dvir, and Ronit Elhasid, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Michael F. Walsh, Memorial Sloan Kettering Center, New York, NY; Alyssa Reddy, University of Alabama at Birmingham, Birmingham, AL; Michael Osborn, Women's and Children's Hospital, North Adelaide, South Australia; Michael Sullivan, Jordan Hansford, and Andrew Dodgshun, Royal Children's Hospital, Melbourne, Victoria, Australia; and Nancy Klauber-Demore, Lindsay Peterson, Sunil Patel, and Scott Lindhorst, Medical University of South Carolina, Charleston, SC.

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http://dx.doi.org/10.1200/JCO.2016.66.6552DOI Listing
July 2016

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

Authors:
Alison M Dunning Kyriaki Michailidou Karoline B Kuchenbaecker Deborah Thompson Juliet D French Jonathan Beesley Catherine S Healey Siddhartha Kar Karen A Pooley Elena Lopez-Knowles Ed Dicks Daniel Barrowdale Nicholas A Sinnott-Armstrong Richard C Sallari Kristine M Hillman Susanne Kaufmann Haran Sivakumaran Mahdi Moradi Marjaneh Jason S Lee Margaret Hills Monika Jarosz Suzie Drury Sander Canisius Manjeet K Bolla Joe Dennis Qin Wang John L Hopper Melissa C Southey Annegien Broeks Marjanka K Schmidt Artitaya Lophatananon Kenneth Muir Matthias W Beckmann Peter A Fasching Isabel Dos-Santos-Silva Julian Peto Elinor J Sawyer Ian Tomlinson Barbara Burwinkel Frederik Marme Pascal Guénel Thérèse Truong Stig E Bojesen Henrik Flyger Anna González-Neira Jose I A Perez Hoda Anton-Culver Lee Eunjung Volker Arndt Hermann Brenner Alfons Meindl Rita K Schmutzler Hiltrud Brauch Ute Hamann Kristiina Aittomäki Carl Blomqvist Hidemi Ito Keitaro Matsuo Natasha Bogdanova Thilo Dörk Annika Lindblom Sara Margolin Veli-Matti Kosma Arto Mannermaa Chiu-Chen Tseng Anna H Wu Diether Lambrechts Hans Wildiers Jenny Chang-Claude Anja Rudolph Paolo Peterlongo Paolo Radice Janet E Olson Graham G Giles Roger L Milne Christopher A Haiman Brian E Henderson Mark S Goldberg Soo H Teo Cheng Har Yip Silje Nord Anne-Lise Borresen-Dale Vessela Kristensen Jirong Long Wei Zheng Katri Pylkäs Robert Winqvist Irene L Andrulis Julia A Knight Peter Devilee Caroline Seynaeve Jonine Figueroa Mark E Sherman Kamila Czene Hatef Darabi Antoinette Hollestelle Ans M W van den Ouweland Keith Humphreys Yu-Tang Gao Xiao-Ou Shu Angela Cox Simon S Cross William Blot Qiuyin Cai Maya Ghoussaini Barbara J Perkins Mitul Shah Ji-Yeob Choi Daehee Kang Soo Chin Lee Mikael Hartman Maria Kabisch Diana Torres Anna Jakubowska Jan Lubinski Paul Brennan Suleeporn Sangrajrang Christine B Ambrosone Amanda E Toland Chen-Yang Shen Pei-Ei Wu Nick Orr Anthony Swerdlow Lesley McGuffog Sue Healey Andrew Lee Miroslav Kapuscinski Esther M John Mary Beth Terry Mary B Daly David E Goldgar Saundra S Buys Ramunas Janavicius Laima Tihomirova Nadine Tung Cecilia M Dorfling Elizabeth J van Rensburg Susan L Neuhausen Bent Ejlertsen Thomas V O Hansen Ana Osorio Javier Benitez Rachel Rando Jeffrey N Weitzel Bernardo Bonanni Bernard Peissel Siranoush Manoukian Laura Papi Laura Ottini Irene Konstantopoulou Paraskevi Apostolou Judy Garber Muhammad Usman Rashid Debra Frost Louise Izatt Steve Ellis Andrew K Godwin Norbert Arnold Dieter Niederacher Kerstin Rhiem Nadja Bogdanova-Markov Charlotte Sagne Dominique Stoppa-Lyonnet Francesca Damiola Olga M Sinilnikova Sylvie Mazoyer Claudine Isaacs Kathleen B M Claes Kim De Leeneer Miguel de la Hoya Trinidad Caldes Heli Nevanlinna Sofia Khan Arjen R Mensenkamp Maartje J Hooning Matti A Rookus Ava Kwong Edith Olah Orland Diez Joan Brunet Miquel Angel Pujana Jacek Gronwald Tomasz Huzarski Rosa B Barkardottir Rachel Laframboise Penny Soucy Marco Montagna Simona Agata Manuel R Teixeira Sue Kyung Park Noralane Lindor Fergus J Couch Marc Tischkowitz Lenka Foretova Joseph Vijai Kenneth Offit Christian F Singer Christine Rappaport Catherine M Phelan Mark H Greene Phuong L Mai Gad Rennert Evgeny N Imyanitov Peter J Hulick Kelly-Anne Phillips Marion Piedmonte Anna Marie Mulligan Gord Glendon Anders Bojesen Mads Thomassen Maria A Caligo Sook-Yee Yoon Eitan Friedman Yael Laitman Ake Borg Anna von Wachenfeldt Hans Ehrencrona Johanna Rantala Olufunmilayo I Olopade Patricia A Ganz Robert L Nussbaum Simon A Gayther Katherine L Nathanson Susan M Domchek Banu K Arun Gillian Mitchell Beth Y Karlan Jenny Lester Gertraud Maskarinec Christy Woolcott Christopher Scott Jennifer Stone Carmel Apicella Rulla Tamimi Robert Luben Kay-Tee Khaw Åslaug Helland Vilde Haakensen Mitch Dowsett Paul D P Pharoah Jacques Simard Per Hall Montserrat García-Closas Celine Vachon Georgia Chenevix-Trench Antonis C Antoniou Douglas F Easton Stacey L Edwards

Nat Genet 2016 Apr 29;48(4):374-86. Epub 2016 Feb 29.

Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1038/ng.3521DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938803PMC
April 2016

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

A survey of APC mutations in Quebec.

Fam Cancer 2011 Dec;10(4):659-65

Molecular Pathology Unit, Department of Pathology, Jewish General Hospital, McGill University, Room D-112, 3755, chemin de la Cote-Ste-Catherine, Montreal, QC H3T 1E2, Canada.

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http://link.springer.com/content/pdf/10.1007/s10689-011-9468
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http://link.springer.com/10.1007/s10689-011-9468-4
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http://dx.doi.org/10.1007/s10689-011-9468-4DOI Listing
December 2011

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.

Authors:
David G Cox Jacques Simard Daniel Sinnett Yosr Hamdi Penny Soucy Manon Ouimet Laure Barjhoux Carole Verny-Pierre Lesley McGuffog Sue Healey Csilla Szabo Mark H Greene Phuong L Mai Irene L Andrulis Mads Thomassen Anne-Marie Gerdes Maria A Caligo Eitan Friedman Yael Laitman Bella Kaufman Shani S Paluch Åke Borg Per Karlsson Marie Stenmark Askmalm Gisela Barbany Bustinza Katherine L Nathanson Susan M Domchek Timothy R Rebbeck Javier Benítez Ute Hamann Matti A Rookus Ans M W van den Ouweland Margreet G E M Ausems Cora M Aalfs Christi J van Asperen Peter Devilee Hans J J P Gille Susan Peock Debra Frost D Gareth Evans Ros Eeles Louise Izatt Julian Adlard Joan Paterson Jacqueline Eason Andrew K Godwin Marie-Alice Remon Virginie Moncoutier Marion Gauthier-Villars Christine Lasset Sophie Giraud Agnès Hardouin Pascaline Berthet Hagay Sobol François Eisinger Brigitte Bressac de Paillerets Olivier Caron Capucine Delnatte David Goldgar Alex Miron Hilmi Ozcelik Saundra Buys Melissa C Southey Mary Beth Terry Christian F Singer Anne-Catharina Dressler Muy-Kheng Tea Thomas V O Hansen Oskar Johannsson Marion Piedmonte Gustavo C Rodriguez Jack B Basil Stephanie Blank Amanda E Toland Marco Montagna Claudine Isaacs Ignacio Blanco Simon A Gayther Kirsten B Moysich Rita K Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Dieter Niederacher Christian Sutter Dorothea Gadzicki Britta Fiebig Trinidad Caldes Rachel Laframboise Heli Nevanlinna Xiaoqing Chen Jonathan Beesley Amanda B Spurdle Susan L Neuhausen Yuan C Ding Fergus J Couch Xianshu Wang Paolo Peterlongo Siranoush Manoukian Loris Bernard Paolo Radice Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou Dominique Stoppa-Lyonnet Sylvie Mazoyer Olga M Sinilnikova

Hum Mol Genet 2011 Dec 2;20(23):4732-47. Epub 2011 Sep 2.

INSERM U1052, CNRS UMR5286, Université Lyon 1, Cancer Research Center of Lyon, Lyon, France.

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http://hmg.oxfordjournals.org/content/20/23/4732.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddr388
Publisher Site
http://dx.doi.org/10.1093/hmg/ddr388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3733139PMC
December 2011

Clinical validity of karyotyping for the diagnosis of chromosomal imbalance following array comparative genomic hybridisation.

J Med Genet 2011 Dec 1;48(12):851-5. Epub 2011 Oct 1.

Centre de Recherche du Centre Hospitalier Universitaire de Québec (CRCHUQ), Faculté de Médecine, Université Laval, Québec, Qc, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2011-100304DOI Listing
December 2011

Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.

Neurogenetics 2010 Oct 17;11(4):457-64. Epub 2010 Jul 17.

Laboratoire de neurogénétique de la motricité, Neuromics Center for Excellence of Université de Montréal, CRCHUM, 1560 Sherbrooke East, Montreal, Quebec, H2L 4M1, Canada.

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http://dx.doi.org/10.1007/s10048-010-0251-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4147760PMC
October 2010

Germline mutations in the breast cancer susceptibility gene PTEN are rare in high-risk non-BRCA1/2 French Canadian breast cancer families.

Fam Cancer 2007 17;6(4):483-90. Epub 2007 Jul 17.

Cancer Genomics Laboratory, Oncology and Molecular Endocrinology Research Centre, CHUQ, Pavillon CHUL, Laval University, Quebec City, QC, Canada.

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http://dx.doi.org/10.1007/s10689-007-9151-yDOI Listing
March 2008

Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease.

Mol Genet Metab 2008 Mar 26;93(3):331-40. Epub 2007 Nov 26.

Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, Que., Canada J1H 5N4.

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http://dx.doi.org/10.1016/j.ymgme.2007.10.001DOI Listing
March 2008

Genetic variants and haplotype analyses of the ZBRK1/ZNF350 gene in high-risk non BRCA1/2 French Canadian breast and ovarian cancer families.

Int J Cancer 2008 Jan;122(1):108-16

Cancer Genomics Laboratory, Oncology and Molecular Endocrinology Research Centre, Centre Hospitalier Universitaire de Québec and Laval University, Quebec City, Canada.

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http://dx.doi.org/10.1002/ijc.23058DOI Listing
January 2008

No Evidence of BRCA1/2 genomic rearrangements in high-risk French-Canadian breast/ovarian cancer families.

Genet Test 2006 ;10(2):104-15

Cancer Genomics Laboratory, Oncology and Molecular Endocrinology Research Center, Centre Hospitalier Universitaire de Québec, and Laval University, Québec.

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http://dx.doi.org/10.1089/gte.2006.10.104DOI Listing
September 2006

No evidence of false reassurance among women with an inconclusive BRCA1/2 genetic test result.

Cancer Epidemiol Biomarkers Prev 2005 Dec;14(12):2862-7

Unité de recherche en santé des populations, Centre hospitalier affilié universitaire de Québec, Hôpital du Saint-Sacrement, 1050 chemin Sainte-Foy, Québec, Québec, Canada G1S 4L8.

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http://dx.doi.org/10.1158/1055-9965.EPI-05-0512DOI Listing
December 2005

A new alternative splice variant of BRCA1 containing an additional in-frame exon.

Biochim Biophys Acta 2005 Oct 13;1731(1):57-65. Epub 2005 Sep 13.

Cancer Genomics Laboratory T3-57, Oncology and Molecular Endocrinology Research Center, CHUL Research Center, Centre Hospitalier Universitaire de Québec, 2705 Laurier Boulevard, Québec City, Canada.

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http://dx.doi.org/10.1016/j.bbaexp.2005.08.011DOI Listing
October 2005

Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families.

Hum Genet 2005 Jul 10;117(2-3):119-32. Epub 2005 May 10.

Interdisciplinary Research Group on Demography and Genetic Epidemiology (GRIG), University of Quebec at Chicoutimi, Chicoutimi, Canada, G7H 2B1.

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http://dx.doi.org/10.1007/s00439-005-1297-9DOI Listing
July 2005

Hereditary multiple intestinal atresia: thirty years later.

J Pediatr Surg 2004 May;39(5):726-30

Department of Surgery, Centre Hospitalier de l'Université Laval du Centre Hospitalier Universitaire de Québec, Sainte-Foy, Québec, Canada.

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http://dx.doi.org/10.1016/j.jpedsurg.2004.01.031DOI Listing
May 2004

Genetic analysis of patients with the Saethre-Chotzen phenotype.

Am J Med Genet 2002 Jun;110(2):136-43

Department of Pediatric Laboratory Medicine, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.10400DOI Listing
June 2002