BMC Medical Genetics

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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.

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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: Case report
| 17 September 2018

Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy

Authors: Shouyan Zheng and Wei Liao
Content type: Research article
| 17 September 2018

Correlation between CTLA-4 and CD40 gene polymorphisms and their interaction in graves’ disease in a Chinese Han population

Authors: Xiaoming Chen, Zhuoqing Hu, Meilian Liu, Huaqian Li, Chanbo Liang, Wei Li, Liwen Bao, Manyang Chen and Ge Wu
Content type: Case report
| 15 September 2018

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report

Authors: Anwar Baban, Monia Magliozzi, Bart Loeys, Rachele Adorisio, Viola Alesi, Aurelio Secinaro, Bernadette Corica, Luca Vricella, Harry C. Dietz, Fabrizio Drago, Antonio Novelli and Antonio Amodeo
Content type: Research article
| 14 September 2018

Association between GDF5 rs143383 genetic polymorphism and musculoskeletal degenerative diseases susceptibility: a meta-analysis

Authors: Xin Huang, Weiyue Zhang and Zengwu Shao
Content type: Case report
| 14 September 2018

Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria

Authors: Wei Peng, Xiu-Wei Ma, Xiao Yang, Wan-Qiao Zhang, Lei Yan, Yong-Xia Wang, Xin Liu, Yan Wang and Zhi-Chun Feng

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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

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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.

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BMC Series blog

Highlights of the BMC series: August 2018

10 September 2018
Alcohol as part of ‘care practices’ in White British women’s everyday personal relationships

10 September 2018
What do we know about migraine? Mechanisms, treatment and the future

07 September 2018

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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

Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy

Correlation between CTLA-4 and CD40 gene polymorphisms and their interaction in graves’ disease in a Chinese Han population

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report

Association between GDF5 rs143383 genetic polymorphism and musculoskeletal degenerative diseases susceptibility: a meta-analysis

Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria

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: August 2018

Alcohol as part of ‘care practices’ in White British women’s everyday personal relationships

What do we know about migraine? Mechanisms, treatment and the future

Latest Tweets

2017 Journal Metrics

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