Publications by authors named "Birgitte Bertelsen"

25Publications

Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndrome.

Fam Cancer 2020 Jun 6. Epub 2020 Jun 6.

Danish Polyposis Registry, Hvidovre Hospital, Gastrounit, Hvidovre, Denmark.

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http://dx.doi.org/10.1007/s10689-020-00191-4DOI Listing
June 2020

The Spectrum of Protein Truncating Variants in European Breast Cancer Cases.

Cancers (Basel) 2020 01 26;12(2). Epub 2020 Jan 26.

Genome Diagnostics Program, IFOM - the FIRC Institute for Molecular Oncology, Milan 20139, Italy.

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http://dx.doi.org/10.3390/cancers12020292DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073216PMC
January 2020

Association of Genomic Domains in and with Prostate Cancer Risk and Aggressiveness.

Authors:
Vivek L Patel Evan L Busch Tara M Friebel Angel Cronin Goska Leslie Lesley McGuffog Julian Adlard Simona Agata Bjarni A Agnarsson Munaza Ahmed Kristiina Aittomäki Elisa Alducci Irene L Andrulis Adalgeir Arason Norbert Arnold Grazia Artioli Brita Arver Bernd Auber Jacopo Azzollini Judith Balmaña Rosa B Barkardottir Daniel R Barnes Alicia Barroso Daniel Barrowdale Muriel Belotti Javier Benitez Birgitte Bertelsen Marinus J Blok Istvan Bodrogi Valérie Bonadona Bernardo Bonanni Davide Bondavalli Susanne E Boonen Julika Borde Ake Borg Angela R Bradbury Angela Brady Carole Brewer Joan Brunet Bruno Buecher Saundra S Buys Santiago Cabezas-Camarero Trinidad Caldés Almuth Caliebe Maria A Caligo Mariarosaria Calvello Ian G Campbell Ileana Carnevali Estela Carrasco Tsun L Chan Annie T W Chu Wendy K Chung Kathleen B M Claes Gemo Study Collaborators Embrace Collaborators Jackie Cook Laura Cortesi Fergus J Couch Mary B Daly Giuseppe Damante Esther Darder Rosemarie Davidson Miguel de la Hoya Lara Della Puppa Joe Dennis Orland Díez Yuan Chun Ding Nina Ditsch Susan M Domchek Alan Donaldson Bernd Dworniczak Douglas F Easton Diana M Eccles Rosalind A Eeles Hans Ehrencrona Bent Ejlertsen Christoph Engel D Gareth Evans Laurence Faivre Ulrike Faust Lídia Feliubadaló Lenka Foretova Florentia Fostira George Fountzilas Debra Frost Vanesa García-Barberán Pilar Garre Marion Gauthier-Villars Lajos Géczi Andrea Gehrig Anne-Marie Gerdes Paul Gesta Giuseppe Giannini Gord Glendon Andrew K Godwin David E Goldgar Mark H Greene Angelica M Gutierrez-Barrera Eric Hahnen Ute Hamann Jan Hauke Natalie Herold Frans B L Hogervorst Ellen Honisch John L Hopper Peter J Hulick KConFab Investigators Hebon Investigators Louise Izatt Agnes Jager Paul James Ramunas Janavicius Uffe Birk Jensen Thomas Dyrso Jensen Oskar Th Johannsson Esther M John Vijai Joseph Eunyoung Kang Karin Kast Johanna I Kiiski Sung-Won Kim Zisun Kim Kwang-Pil Ko Irene Konstantopoulou Gero Kramer Lotte Krogh Torben A Kruse Ava Kwong Mirjam Larsen Christine Lasset Charlotte Lautrup Conxi Lazaro Jihyoun Lee Jong Won Lee Min Hyuk Lee Johannes Lemke Fabienne Lesueur Annelie Liljegren Annika Lindblom Patricia Llovet Adria Lopez-Fernández Irene Lopez-Perolio Victor Lorca Jennifer T Loud Edmond S K Ma Phuong L Mai Siranoush Manoukian Veronique Mari Lynn Martin Laura Matricardi Noura Mebirouk Veronica Medici Hanne E J Meijers-Heijboer Alfons Meindl Arjen R Mensenkamp Clare Miller Denise Molina Gomes Marco Montagna Thea M Mooij Lidia Moserle Emmanuelle Mouret-Fourme Anna Marie Mulligan Katherine L Nathanson Marie Navratilova Heli Nevanlinna Dieter Niederacher Finn C Cilius Nielsen Liene Nikitina-Zake Kenneth Offit Edith Olah Olufunmilayo I Olopade Kai-Ren Ong Ana Osorio Claus-Eric Ott Domenico Palli Sue K Park Michael T Parsons Inge Sokilde Pedersen Bernard Peissel Ana Peixoto Pedro Pérez-Segura Paolo Peterlongo Annabeth Høgh Petersen Mary E Porteous Miguel Angel Pujana Paolo Radice Juliane Ramser Johanna Rantala Muhammad U Rashid Kerstin Rhiem Piera Rizzolo Mark E Robson Matti A Rookus Caroline M Rossing Kathryn J Ruddy Catarina Santos Claire Saule Rosa Scarpitta Rita K Schmutzler Hélène Schuster Leigha Senter Caroline M Seynaeve Payal D Shah Priyanka Sharma Vivian Y Shin Valentina Silvestri Jacques Simard Christian F Singer Anne-Bine Skytte Katie Snape Angela R Solano Penny Soucy Melissa C Southey Amanda B Spurdle Linda Steele Doris Steinemann Dominique Stoppa-Lyonnet Agostina Stradella Lone Sunde Christian Sutter Yen Y Tan Manuel R Teixeira Soo Hwang Teo Mads Thomassen Maria Grazia Tibiletti Marc Tischkowitz Silvia Tognazzo Amanda E Toland Stefania Tommasi Diana Torres Angela Toss Alison H Trainer Nadine Tung Christi J van Asperen Frederieke H van der Baan Lizet E van der Kolk Rob B van der Luijt Liselotte P van Hest Liliana Varesco Raymonda Varon-Mateeva Alessandra Viel Jeroen Vierstraete Roberta Villa Anna von Wachenfeldt Philipp Wagner Shan Wang-Gohrke Barbara Wappenschmidt Jeffrey N Weitzel Greet Wieme Siddhartha Yadav Drakoulis Yannoukakos Sook-Yee Yoon Cristina Zanzottera Kristin K Zorn Anthony V D'Amico Matthew L Freedman Mark M Pomerantz Georgia Chenevix-Trench Antonis C Antoniou Susan L Neuhausen Laura Ottini Henriette Roed Nielsen Timothy R Rebbeck

Cancer Res 2020 02 13;80(3):624-638. Epub 2019 Nov 13.

Harvard T.H. Chan School of Public Health, Boston, Massachusetts.

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http://dx.doi.org/10.1158/0008-5472.CAN-19-1840DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7553241PMC
February 2020

Novel Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome.

Case Rep Genet 2019 28;2019:9650184. Epub 2019 Jul 28.

Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

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http://dx.doi.org/10.1155/2019/9650184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6702821PMC
July 2019

Dietary interventions in cardiac rehabilitation - The gap between guidelines and clinical practice.

Clin Nutr ESPEN 2018 10 14;27:120-126. Epub 2018 Jun 14.

REHPA - The Danish Knowledge Centre for Rehabilitation and Palliative Care, Department of Oncology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Vestergade 17, DK-5700, Nyborg, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.clnesp.2018.05.007DOI Listing
October 2018

A Danish national effort of BRCA1/2 variant classification.

Acta Oncol 2018 01 23;57(1):159-162. Epub 2017 Nov 23.

g Department of Clinical Genetics , Odense University Hospital , Odense , Denmark.

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http://dx.doi.org/10.1080/0284186X.2017.1400693DOI Listing
January 2018

Investigation of SNP rs2060546 Immediately Upstream to in a Danish Gilles de la Tourette Syndrome Cohort.

Front Neurosci 2016 22;10:531. Epub 2016 Nov 22.

Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Glostrup, Denmark.

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http://dx.doi.org/10.3389/fnins.2016.00531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5118467PMC
November 2016

Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination.

Hum Mutat 2016 Apr 4;37(4):385-95. Epub 2016 Feb 4.

Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, 2600, Denmark.

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http://dx.doi.org/10.1002/humu.22953DOI Listing
April 2016

Association Study of CHRNA7 Promoter Variants with Sensory and Sensorimotor Gating in Schizophrenia Patients and Healthy Controls: A Danish Case-Control Study.

Neuromolecular Med 2015 Dec 16;17(4):423-30. Epub 2015 Sep 16.

Center for Clinical Intervention and Neuropsychiatric Schizophrenia Research, Faculty of Health Sciences, Psychiatric Center Glostrup, University of Copenhagen, Ndr. Ringvej 29-67, 2600, Glostrup, Denmark.

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http://dx.doi.org/10.1007/s12017-015-8371-9DOI Listing
December 2015

A germline chromothripsis event stably segregating in 11 individuals through three generations.

Genet Med 2016 05 27;18(5):494-500. Epub 2015 Aug 27.

Department of Clinical Genetics, Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup, Denmark.

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http://dx.doi.org/10.1038/gim.2015.112DOI Listing
May 2016

Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function.

BMC Med Genet 2015 Jun 23;16:40. Epub 2015 Jun 23.

Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, Glostrup, 2600, Denmark.

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http://dx.doi.org/10.1186/s12881-015-0179-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4630934PMC
June 2015

Association study between CDH2 and Gilles de la Tourette syndrome in a Danish cohort.

Psychiatry Res 2015 Aug 19;228(3):974-5. Epub 2015 May 19.

Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.psychres.2015.05.010DOI Listing
August 2015

A mosaic small supernumerary marker chromosome 17 in a patient with Tourette syndrome, ADHD and intellectual disability: A case story and review of the literature.

Psychiatry Res 2015 Jul 31;228(1):179-81. Epub 2015 Mar 31.

Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.psychres.2015.03.022DOI Listing
July 2015

A t(3;9)(q25.1;q34.3) translocation leading to OLFM1 fusion transcripts in Gilles de la Tourette syndrome, OCD and ADHD.

Psychiatry Res 2015 Feb 30;225(3):268-75. Epub 2014 Dec 30.

Department of Clinical Genetics, Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01651781140102
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http://dx.doi.org/10.1016/j.psychres.2014.12.028DOI Listing
February 2015

Association of the CHRNA7 promoter variant -86T with Tourette syndrome and comorbid obsessive-compulsive disorder.

Psychiatry Res 2014 Nov 28;219(3):710-1. Epub 2014 Jun 28.

Neurobiology Research Unit, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.psychres.2014.06.032DOI Listing
November 2014

Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature.

Neurogenetics 2013 Nov 29;14(3-4):197-203. Epub 2013 Aug 29.

Applied Human Molecular Genetics, Kennedy Center, Rigshospitalet, Copenhagen University Hospital, Glostrup, 2600, Denmark.

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http://dx.doi.org/10.1007/s10048-013-0372-yDOI Listing
November 2013

Microduplication of 15q13.3 and Xq21.31 in a family with Tourette syndrome and comorbidities.

Am J Med Genet B Neuropsychiatr Genet 2013 Dec 27;162B(8):825-31. Epub 2013 Jul 27.

Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.

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http://dx.doi.org/10.1002/ajmg.b.32186DOI Listing
December 2013

Sequence analysis of SLITRK1 for var321 in Danish patients with Tourette syndrome and review of the literature.

Psychiatr Genet 2013 Jun;23(3):130-3

Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.

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http://dx.doi.org/10.1097/YPG.0b013e328360c880DOI Listing
June 2013

[The genetics of Gilles de la Tourette syndrome].

Ugeskr Laeger 2012 Feb;174(8):484-7

Center for Anvendt Human Molekylærgenetik, Kennedy Centret, Gl. Landevej 7, 2600 Glostrup, Denmark.

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February 2012

Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS.

Neurobiol Aging 2012 Jan 26;33(1):208.e1-5. Epub 2011 Aug 26.

Center for Applied Human Molecular Genetics, The Kennedy Center, Glostrup, Denmark.

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http://dx.doi.org/10.1016/j.neurobiolaging.2011.07.001DOI Listing
January 2012

Three new loci for determining x chromosome inactivation patterns.

J Mol Diagn 2011 Sep 2;13(5):537-40. Epub 2011 Jul 2.

Center for Applied Human Molecular Genetics, The Kennedy Center, Glostrup, Denmark.

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http://dx.doi.org/10.1016/j.jmoldx.2011.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157618PMC
September 2011