BMC Medical Genetics

Pixabay

No genes for the “broken hearted”

Screening of a large cohort of patients with Takotsubo cardiomyopathy, also known as 'broken heart disease', shows no significant association with polymorphisms previously suggested to contribute to the disease.

Pixabay

Featured article: Neurotrophins and emotions after mild traumatic brain injury

The rs6265 variant of brain-derived neurotrophic factor (BDNF) gene shows a strong correlation with the emotional response following mild traumatic brain injury.

We are recruiting new Editorial Board members

We are now recruiting Associate Editors for our Editorial Board to join our team of academic editors in assessing manuscripts in the field of medical genetics.

Content type: Research article
| 21 January 2019

Glutathione S-transferase pi 1 variant and squamous cell carcinoma susceptibility: a meta-analysis of 52 case-control studies

Authors: Shuang Wang, Jingqi Zhang, Fan Jun and Zhijie Bai
Content type: Case report
| 21 January 2019

A new genetic variant of hereditary apolipoprotein A-I amyloidosis: a case-report followed by discussion of diagnostic challenges and therapeutic options

Authors: Myrto Moutafi, Dimitrios C. Ziogas, Spyros Michopoulos, Tina Bagratuni, Vassiliki Vasileiou, Laura Verga, Giampaolo Merlini, Giovanni Palladini, Charis Matsouka, Meletios A. Dimopoulos and Efstathios Kastritis
Content type: Research article
| 19 January 2019

Characterization of APOBEC3 variation in a population of HIV-1 infected individuals in northern South Africa

Authors: Nontokozo D. Matume, Denis M. Tebit, Laurie R. Gray, Stephen D. Turner, David Rekosh, Pascal O. Bessong and Marie-Louise Hammarskjöld
Content type: Research article
| 18 January 2019

Correlation between Interleukin-17 gene polymorphism and osteoarthritis susceptibility in Han Chinese population

Authors: Yuming Bai, Shijun Gao, Ying Liu, Shengli Jin, Haisen Zhang and Ke Su
Content type: Case report
| 18 January 2019

Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease

Authors: Ting Ge, Xinyue Zhang, Yongmei Xiao, Yizhong Wang and Ting Zhang

Most recent articles RSS

View all articles

Content type: Research article
| 14 December 2009

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients

Authors: Cibele Masotti, Camila C Ornelas, Alessandra Splendore-Gordonos, Ricardo Moura, Têmis M Félix, Nivaldo Alonso, Anamaria A Camargo and Maria Rita Passos-Bueno
Content type: Case report
| 1 May 2013

Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation

Authors: Lauren S Marshall, Julie Simon, Tim Wood, Mei Peng, Renius Owen, Gary S Feldman and Michael V Zaragoza
Content type: Research article
| 1 May 2015

Leptin and adiponectin DNA methylation levels in adipose tissues and blood cells are associated with BMI, waist girth and LDL-cholesterol levels in severely obese men and women

Authors: Andrée-Anne Houde, Cécilia Légaré, Simon Biron, Odette Lescelleur, Laurent Biertho, Simon Marceau, André Tchernof, Marie-Claude Vohl, Marie-France Hivert and Luigi Bouchard
Content type: Research article
| 19 February 2013

Allele-specific polymerase chain reaction for the detection of Alzheimer’s disease-related single nucleotide polymorphisms

Authors: Mohd Nazif Darawi, Chin Ai-Vyrn, Kalavathy Ramasamy, Philip Poi Jun Hua, Tan Maw Pin, Shahrul Bahyah Kamaruzzaman and Abu Bakar Abdul Majeed
Content type: Correspondence
| 11 May 2010

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

Authors: Simon C Ramsden, Jill Clayton-Smith, Rachael Birch and Karin Buiting

Most accessed articles RSS

View all articles

Aims and scope

BMC Medical Genetics is an open access journal publishing original peer-reviewed research articles in the effects of genetic variation in individuals, families and among populations in relation to human health and disease.

Editor

Matteo Pasini, BioMed Central, UK

Section Editors

Dan Rujescu, Universitätsklinikum Halle, Germany
Danish Saleheen, University of Pennsylvania, USA

Data Support Services pilot

Authors submitting to this journal can opt to use a new service that will make it easier to share research data.

Find out more

BMC Series blog

Highlights of the BMC series: December 2018

11 January 2019
Succeeding as a woman in biomedical engineering

09 January 2019
Lessons learned and best practices from the Polio Eradication Programme in Nigeria

13 December 2018

Latest Tweets

BMC Medical Genetics

No genes for the “broken hearted”

Featured article: Neurotrophins and emotions after mild traumatic brain injury

We are recruiting new Editorial Board members

Articles

Glutathione S-transferase pi 1 variant and squamous cell carcinoma susceptibility: a meta-analysis of 52 case-control studies

A new genetic variant of hereditary apolipoprotein A-I amyloidosis: a case-report followed by discussion of diagnostic challenges and therapeutic options

Characterization of APOBEC3 variation in a population of HIV-1 infected individuals in northern South Africa

Correlation between Interleukin-17 gene polymorphism and osteoarthritis susceptibility in Han Chinese population

Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients

Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation

Leptin and adiponectin DNA methylation levels in adipose tissues and blood cells are associated with BMI, waist girth and LDL-cholesterol levels in severely obese men and women

Allele-specific polymerase chain reaction for the detection of Alzheimer’s disease-related single nucleotide polymorphisms

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

Aims and scope

Editor

Section Editors

Data Support Services pilot

BMC Series blog

Highlights of the BMC series: December 2018

Succeeding as a woman in biomedical engineering

Lessons learned and best practices from the Polio Eradication Programme in Nigeria

Latest Tweets

2017 Journal Metrics

Follow

BMC Medical Genetics

Contact us