Zosia Miedzybrodzka

Zosia Miedzybrodzka

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Zosia Miedzybrodzka

Zosia Miedzybrodzka

Publications by authors named "Zosia Miedzybrodzka"

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42Publications

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Parents' views of genetic testing and treatment of familial hypercholesterolemia in children: a qualitative study.

J Community Genet 2019 Jan 14;10(1):129-141. Epub 2018 Jun 14.

Medical Genetics Group, University of Aberdeen, Polwarth Building, Aberdeen, AB25 2ZD, UK.

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http://dx.doi.org/10.1007/s12687-018-0373-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6325044PMC
January 2019

The developmental and genetic basis of 'clubfoot' in the peroneal muscular atrophy mutant mouse.

Development 2018 02 8;145(3). Epub 2018 Feb 8.

School of Medicine, Medical Sciences and Nutrition, University of Aberdeen, Institute of Medical Sciences, Foresterhill, Aberdeen AB25 2ZD, UK.

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http://dx.doi.org/10.1242/dev.160093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5818009PMC
February 2018

Gefitinib and EGFR Gene Copy Number Aberrations in Esophageal Cancer.

J Clin Oncol 2017 Jul 24;35(20):2279-2287. Epub 2017 May 24.

Russell D. Petty, University of Dundee; Asa Dahle-Smith, Ninewells Hospital and Medical School, Dundee; David A.J. Stevenson, Aileen Osborne, Doreen Massie, Caroline Clark, Zosia Miedzybrodzka, and Graeme I. Murray, University of Aberdeen, Aberdeen; Susan J. Dutton and Corran Roberts, Centre for Statistics in Medicine, University of Oxford, Oxford; Mark Harrison, Mount Vernon Hospital, Northwood; Irene Y. Chong and Ian Chau, Royal Marsden Hospital, London and Surrey; Wasat Mansoor, Christie Hospital, Manchester; Joyce Thompson, Birmingham Heartland Hospital, Heart of England National Health Service Trust, Birmingham; Anirban Chatterjee, Royal Shrewsbury Hospital, Shrewsbury; Stephen J. Falk, Bristol Oncology Centre, Bristol; Sean Elyan, Cheltenham General Hospital, Cheltenham; Angel Garcia-Alonso, Clan Clwyd Hospital, Rhyl; David Walter Fyfe, Furness General Hospital, Furness; Jonathan Wadsley, Weston Park Hospital, Sheffield, United Kingdom; and David R. Ferry, Eli Lilly and Company, Bridgewater, NJ.

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http://dx.doi.org/10.1200/JCO.2016.70.3934DOI Listing
July 2017

Huntington disease reduced penetrance alleles occur at high frequency in the general population.

Neurology 2016 Jul 22;87(3):282-8. Epub 2016 Jun 22.

From the Centre for Molecular Medicine and Therapeutics (C.K., J.A.C., R.A.S., M.R.H.), University of British Columbia, Canada; Medical Genetics Group (Z.M., M.D.), School of Medicine and Dentistry, University of Aberdeen, UK; and Molecular Biology Group (S.J.M., E.S.G., N.G.), Coriell Institute for Medical Research, Camden, NJ.

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http://dx.doi.org/10.1212/WNL.0000000000002858DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4955276PMC
July 2016

Mutation of genes controlling mRNA metabolism and protein synthesis predisposes to neurodevelopmental disorders.

Biochem Soc Trans 2015 Dec;43(6):1259-65

School of Medical Sciences, Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen AB25 2ZD, Scotland, U.K.

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http://dx.doi.org/10.1042/BST20150168DOI Listing
December 2015

Full UPF3B function is critical for neuronal differentiation of neural stem cells.

Mol Brain 2015 May 27;8:33. Epub 2015 May 27.

University of Aberdeen, Institute of Medical Sciences, Foresterhill, Aberdeen AB25 2ZD, Scotland, UK.

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http://dx.doi.org/10.1186/s13041-015-0122-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4445987PMC
May 2015

Lymphocyte telomere length is long in BRCA1 and BRCA2 mutation carriers regardless of cancer-affected status.

Cancer Epidemiol Biomarkers Prev 2014 Jun 18;23(6):1018-24. Epub 2014 Mar 18.

Authors' Affiliations: Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care; Centre for Cancer Genetic Epidemiology, Department of Oncology, Strangeways Research Laboratory, University of Cambridge; Department of Epigenetics, Babraham Institute, Babraham Research Campus; Department of Medical Genetics, University of Cambridge, Cambridge; South East Thames Regional Genetics Service, Guy's Hospital; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust; Clinical Genetics Department, St. Georges Hospital, University of London, London; Yorkshire Regional Genetics Service, Leeds; Leicestershire Clinical Genetics Service, University Hospitals of Leicester NHS Trust; Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter; West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston, Birmingham;Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield; Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospitals, Glasgow; South West Regional Genetics Service, Bristol; North West Thames Regional Genetics Service, Kennedy-Galton Centre, Harrow; Institute of Human Genetics, Centre for Life, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle upon Tyne; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust; Cheshire & Merseyside Clinical Genetics Service, Liverpool Women's NHS Foundation Trust, Liverpool; All Wales Medical Genetics Service, Glan Clwyd Hospital, Rhyl; North of Scotland Regional Genetics Service, NHS Grampian & University of Aberdeen, Foresterhill, Aberdeen; All Wales Medical Genetics Services, Singleton Hospital, Swansea; South East of Scotland Regional Genetics Service, Western General Hospital, Edinburgh; All Wales Medical Genetics Services, University Hospital of Wales, Cardiff; Oxford Regional Genetics Service, Churchill Hospital, Oxford; Wessex Clinical Genetics Service, Princess A

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http://dx.doi.org/10.1158/1055-9965.EPI-13-0635-TDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266102PMC
June 2014

3D MRI analysis of the lower legs of treated idiopathic congenital talipes equinovarus (clubfoot).

PLoS One 2013 30;8(1):e54100. Epub 2013 Jan 30.

Division of Biological Chemistry and Drug Discovery, College of Life Sciences, University of Dundee, Dundee, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0054100PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3559654PMC
September 2013

How do partners find out about the risk of Huntington's disease in couple relationships?

J Genet Couns 2013 Jun 9;22(3):336-44. Epub 2013 Jan 9.

Health Services Research Unit, University of Aberdeen, Foresterhill, Aberdeen, UK.

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http://dx.doi.org/10.1007/s10897-012-9562-2DOI Listing
June 2013

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.

Authors:
Antonis C Antoniou Christiana Kartsonaki Olga M Sinilnikova Penny Soucy Lesley McGuffog Sue Healey Andrew Lee Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Elisa Cattaneo Monica Barile Valeria Pensotti Barbara Pasini Riccardo Dolcetti Giuseppe Giannini Anna Laura Putignano Liliana Varesco Paolo Radice Phuong L Mai Mark H Greene Irene L Andrulis Gord Glendon Hilmi Ozcelik Mads Thomassen Anne-Marie Gerdes Torben A Kruse Uffe Birk Jensen Dorthe G Crüger Maria A Caligo Yael Laitman Roni Milgrom Bella Kaufman Shani Paluch-Shimon Eitan Friedman Niklas Loman Katja Harbst Annika Lindblom Brita Arver Hans Ehrencrona Beatrice Melin Katherine L Nathanson Susan M Domchek Timothy Rebbeck Ania Jakubowska Jan Lubinski Jacek Gronwald Tomasz Huzarski Tomasz Byrski Cezary Cybulski Bohdan Gorski Ana Osorio Teresa Ramón y Cajal Florentia Fostira Raquel Andrés Javier Benitez Ute Hamann Frans B Hogervorst Matti A Rookus Maartje J Hooning Marcel R Nelen Rob B van der Luijt Theo A M van Os Christi J van Asperen Peter Devilee Hanne E J Meijers-Heijboer Encarna B Gómez Garcia Susan Peock Margaret Cook Debra Frost Radka Platte Jean Leyland D Gareth Evans Fiona Lalloo Ros Eeles Louise Izatt Julian Adlard Rosemarie Davidson Diana Eccles Kai-ren Ong Jackie Cook Fiona Douglas Joan Paterson M John Kennedy Zosia Miedzybrodzka Andrew Godwin Dominique Stoppa-Lyonnet Bruno Buecher Muriel Belotti Carole Tirapo Sylvie Mazoyer Laure Barjhoux Christine Lasset Dominique Leroux Laurence Faivre Myriam Bronner Fabienne Prieur Catherine Nogues Etienne Rouleau Pascal Pujol Isabelle Coupier Marc Frénay John L Hopper Mary B Daly Mary B Terry Esther M John Saundra S Buys Yosuf Yassin Alexander Miron David Goldgar Christian F Singer Muy-Kheng Tea Georg Pfeiler Anne Catharina Dressler Thomas v O Hansen Lars Jønson Bent Ejlertsen Rosa Bjork Barkardottir Tomas Kirchhoff Kenneth Offit Marion Piedmonte Gustavo Rodriguez Laurie Small John Boggess Stephanie Blank Jack Basil Masoud Azodi Amanda Ewart Toland Marco Montagna Silvia Tognazzo Simona Agata Evgeny Imyanitov Ramunas Janavicius Conxi Lazaro Ignacio Blanco Paul D P Pharoah Lara Sucheston Beth Y Karlan Christine S Walsh Edith Olah Aniko Bozsik Soo-Hwang Teo Joyce L Seldon Mary S Beattie Elizabeth J van Rensburg Michelle D Sluiter Orland Diez Rita K Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Ina Ruehl Raymonda Varon-Mateeva Karin Kast Helmut Deissler Dieter Niederacher Norbert Arnold Dorothea Gadzicki Ines Schönbuchner Trinidad Caldes Miguel de la Hoya Heli Nevanlinna Kristiina Aittomäki Martine Dumont Jocelyne Chiquette Marc Tischkowitz Xiaoqing Chen Jonathan Beesley Amanda B Spurdle Susan L Neuhausen Yuan Chun Ding Zachary Fredericksen Xianshu Wang Vernon S Pankratz Fergus Couch Jacques Simard Douglas F Easton Georgia Chenevix-Trench

Hum Mol Genet 2011 Aug 18;20(16):3304-21. Epub 2011 May 18.

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

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http://dx.doi.org/10.1093/hmg/ddr226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652640PMC
August 2011

Tissue specific characterisation of Lim-kinase 1 expression during mouse embryogenesis.

Gene Expr Patterns 2011 Mar-Apr;11(3-4):221-32. Epub 2010 Dec 16.

School of Medical Sciences, Institute of Medical Sciences, University of Aberdeen, Aberdeen AB25 2ZD, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S1567133X100012
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http://dx.doi.org/10.1016/j.gep.2010.12.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3407955PMC
July 2011

Micro-magnetic resonance imaging and embryological analysis of wild-type and pma mutant mice with clubfoot.

J Anat 2010 Jan 9;216(1):108-20. Epub 2009 Nov 9.

Division of Biological Chemistry and Drug Discovery, College of Life Sciences, University of Dundee, Dundee, UK.

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http://dx.doi.org/10.1111/j.1469-7580.2009.01163.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2807979PMC
January 2010

How young people find out about their family history of Huntington's disease.

Soc Sci Med 2009 May 26;68(10):1892-900. Epub 2009 Mar 26.

Population Health, University of Aberdeen, Polwarth Building, Medical School Foresterhill, Aberdeen AB25 2ZD, UK.

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http://dx.doi.org/10.1016/j.socscimed.2009.02.049DOI Listing
May 2009

Probability estimation models for prediction of BRCA1 and BRCA2 mutation carriers: COS compares favourably with other models.

Fam Cancer 2008 21;7(3):199-212. Epub 2007 Dec 21.

Department of Medicine & Therapeutics, College of Life Sciences & Medicine, Polwarth Building, Foresterhill, Aberdeen, AB25 2ZD, UK.

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http://dx.doi.org/10.1007/s10689-007-9176-2DOI Listing
January 2009

Variation in WNT7A is unlikely to be a cause of familial congenital talipes equinovarus.

BMC Med Genet 2008 Jun 6;9:50. Epub 2008 Jun 6.

Department of Medicine and Therapeutics, University of Aberdeen, Aberdeen, UK.

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http://dx.doi.org/10.1186/1471-2350-9-50DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2438341PMC
June 2008

New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy.

J Neurol Neurosurg Psychiatry 2007 Nov 19;78(11):1267-70. Epub 2007 Jun 19.

Department of Molecular Neuroscience, Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.

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http://jnnp.bmj.com/cgi/doi/10.1136/jnnp.2007.118968
Publisher Site
http://dx.doi.org/10.1136/jnnp.2007.118968DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2117591PMC
November 2007

The essential role of genetic counseling in inherited thrombophilia.

Semin Hematol 2007 Apr;44(2):126-9

North of Scotland Regional Genetics Service, Clinical Genetics Centre, Aberdeen, UK.

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http://dx.doi.org/10.1053/j.seminhematol.2007.01.003DOI Listing
April 2007

Genetics and epidemiology of idiopathic congenital talipes equinovarus.

J Pediatr Orthop 2003 Mar-Apr;23(2):265-72

Department of Orthopaedic Surgery, University of Aberdeen, Aberdeen, United Kingdom.

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September 2003

Congenital talipes equinovarus (clubfoot): a disorder of the foot but not the hand.

J Anat 2003 Jan;202(1):37-42

Department of Medicine & Therapeutics, University of Aberdeen, Foresterhill, Aberdeen, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1571059PMC
http://dx.doi.org/10.1046/j.1469-7580.2003.00147.xDOI Listing
January 2003