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: Research article
| 19 February 2019

The association between interleukin-6 gene -174G/C single nucleotide polymorphism and sepsis: an updated meta-analysis with trial sequential analysis

Authors: Yao Chen, Yanyan Hu and Zhenju Song
Content type: Case report
| 19 February 2019

Novel mutations of STXBP2 and LYST associated with adult haemophagocytic lymphohistiocytosis with Epstein-Barr virus infection: a case report

Authors: Lingshuang Sheng, Wei Zhang, Jia Gu, Kefeng Shen, Hui Luo and Yang Yang
Content type: Research article
| 18 February 2019

A functional variant alters binding of activating protein 1 regulating expression of FGF7 gene associated with chronic obstructive pulmonary disease

Authors: Xiaomei Zhang, Yongxin Guo, Jing Yang, Jianlou Niu, Lina Du, Haiyan Li and Xiaokun Li
Content type: Research article
| 14 February 2019

Association of vitamin D receptor gene variants with polycystic ovary syndrome: a meta-analysis

Authors: Xiao-Yuan Shi, Ai-Ping Huang, Duo-Wen Xie and Xiao-Long Yu
Content type: Research article
| 14 February 2019

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

Authors: Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri, Dhairya Pancholi, Ashish Bavdekar, Ashwin Dalal, Prajnya Ranganath, Katta M Girisha, Anju Shukla, Shubha Phadke, Ratna Puri, Inusha Panigrahi, Anupriya Kaur, Mamta Muranjan, Manisha Goyal, Radha Ramadevi…

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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

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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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Respectful maternity care – the way forward

15 February 2019
Highlights of the BMC Series: January 2019

14 February 2019
The obesity-paradox: impact of body composition on cancer survival

12 February 2019

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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

The association between interleukin-6 gene -174G/C single nucleotide polymorphism and sepsis: an updated meta-analysis with trial sequential analysis

Novel mutations of STXBP2 and LYST associated with adult haemophagocytic lymphohistiocytosis with Epstein-Barr virus infection: a case report

A functional variant alters binding of activating protein 1 regulating expression of FGF7 gene associated with chronic obstructive pulmonary disease

Association of vitamin D receptor gene variants with polycystic ovary syndrome: a meta-analysis

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

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

Respectful maternity care – the way forward

Highlights of the BMC Series: January 2019

The obesity-paradox: impact of body composition on cancer survival

Latest Tweets

2017 Journal Metrics

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