Genetics and genomics

Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort
Christophe Rosty, Mark Clendenning, Michael D Walsh, Stine V Eriksen, Melissa C Southey, Ingrid M Winship, Finlay A Macrae, Alex Boussioutas, Nicola K Poplawski, Susan Parry, Julie Arnold, Joanne P Young, Graham Casey, Robert W Haile, Steven Gallinger, Loïc Le Marchand, Polly A Newcomb, John D Potter, Melissa DeRycke, Noralane M Lindor, Stephen N Thibodeau, John A Baron, Aung Ko Win, John L Hopper, Mark A Jenkins, Daniel D Buchanan

BMJ Open Feb 2016, 6 (2) e010293; DOI: 10.1136/bmjopen-2015-010293
Incidence of adult Huntington's disease in the UK: a UK-based primary care study and a systematic review
Nancy S Wexler, Laura Collett, Alice R Wexler, Michael D Rawlins, Sarah J Tabrizi, Ian Douglas, Liam Smeeth, Stephen J Evans

BMJ Open Feb 2016, 6 (2) e009070; DOI: 10.1136/bmjopen-2015-009070
Association of ACE gene D polymorphism with left ventricular hypertrophy in patients with diastolic heart failure: a case–control study
Ehsan Bahramali, Mona Rajabi, Javad Jamshidi, Seyyed Mohammad Mousavi, Mehrdad Zarghami, Alireza Manafi, Negar Firouzabadi

BMJ Open Feb 2016, 6 (2) e010282; DOI: 10.1136/bmjopen-2015-010282
Haematological and electrophoretic characterisation of β-thalassaemia in Yunnan province of Southwestern China
Jie Zhang, Jing He, Xiaoqin Mao, Xiaohong Zeng, Hong Chen, Jie Su, Baosheng Zhu

BMJ Open Jan 2017, 7 (1) e013367; DOI: 10.1136/bmjopen-2016-013367
Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS): protocol for a prospective, observational, multicentre study
Floor A M Postema, Saskia M J Hopman, Corianne A J M de Borgie, Peter Hammond, Raoul C Hennekam, Johannes H M Merks, on behalf of the TuPS study group, Cora M Aalfs, Jakob K Anninga, Lieke PV Berger, Fonnet E Bleeker, Eveline SJM de Bont, Corianne AJM de Borgie, Charlotte J Dommering, Natasha KA van Eijkelenburg, Peter Hammond, Raoul C Hennekam, Marry M van den Heuvel-Eibrink, Saskia MJ Hopman, Marjolijn CJ Jongmans, Wijnanda A Kors, Tom GW Letteboer, Jan LCM Loeffen, Johannes HM Merks, Maran JW Olderode-Berends, Floor AM Postema, Anja Wagner

BMJ Open Jan 2017, 7 (1) e013237; DOI: 10.1136/bmjopen-2016-013237
Criminality in men with Klinefelter's syndrome and XYY syndrome: a cohort study
Kirstine Stochholm, Anders Bojesen, Anne Skakkebæk Jensen, Svend Juul, Claus Højbjerg Gravholt

BMJ Open Jan 2012, 2 (1) e000650; DOI: 10.1136/bmjopen-2011-000650
Effect of smoking on physical and cognitive capability in later life: a multicohort study using observational and genetic approaches
Teri-Louise North, Tom M Palmer, Sarah J Lewis, Rachel Cooper, Chris Power, Alison Pattie, John M Starr, Ian J Deary, Richard M Martin, Avan Aihie Sayer, Meena Kumari, Cyrus Cooper, Mika Kivimaki, Diana Kuh, Yoav Ben-Shlomo, Ian N M Day

BMJ Open Dec 2015, 5 (12) e008393; DOI: 10.1136/bmjopen-2015-008393
Role of Helicobacter pylori and interleukin 6 -174 gene polymorphism in dyslipidemia: a case–control study
Vesa-Matti Pohjanen, Olli-Pekka Koivurova, Seppo E Niemelä, Riitta A Karttunen, Tuomo J Karttunen

BMJ Open Jan 2016, 6 (1) e009987; DOI: 10.1136/bmjopen-2015-009987
Alu and LINE-1 methylation and lung function in the normative ageing study
Nancy E Lange, Joanne Sordillo, Letizia Tarantini, Valentina Bollati, David Sparrow, Pantel Vokonas, Antonella Zanobetti, Joel Schwartz, Andrea Baccarelli, Augusto A Litonjua, Dawn L DeMeo

BMJ Open Jan 2012, 2 (5) e001231; DOI: 10.1136/bmjopen-2012-001231
A pilot study of rapid whole-genome sequencing for the investigation of a Legionella outbreak
Sandra Reuter, Timothy G Harrison, Claudio U Köser, Matthew J Ellington, Geoffrey P Smith, Julian Parkhill, Sharon J Peacock, Stephen D Bentley, M Estée Török

BMJ Open Jan 2013, 3 (1) e002175; DOI: 10.1136/bmjopen-2012-002175

Main menu

Genetics and genomics

Pages

Log in using your username and password

Main menu

Log in using your username and password

You are here

Genetics and genomics

Pages