BMC Medical Genetics

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IL-6 associates with acute chorioamnionitis and pre-term birth

Placental DNA genotyping reveals IL-6 gene variant rs1800796 is associated with the inflammation of placenta and foetal membrane that is often reported in pre-term birth.

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Day-to-day stressors and gene methylation on cardiovascular disease and cognitive impairment

Several genes linked to subclinical cardiovascular disease and cognitive impairment appear to be differentially methylated in subjects experiencing early- and mid-life stress.

Content type: Case report
| 17 May 2019

Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report

Authors: Lukas Varga, Daniel Danis, Martina Skopkova, Ivica Masindova, Zuzana Slobodova, Lucia Demesova, Milan Profant and Daniela Gasperikova
Content type: Research article
| 17 May 2019

Genetic relationship between IL-10 gene polymorphisms and the risk of clinical atopic dermatitis

Authors: Yuqing Qi, Jie Kong and Jinyan He
Content type: Research article
| 16 May 2019

The VDR gene FokI polymorphism is associated with gestational diabetes mellitus in Turkish women

Authors: Mahmut Apaydın, Selvihan Beysel, Nilnur Eyerci, Ferda Alparslan Pinarli, Mustafa Ulubay, Muhammed Kizilgul, Ozhan Ozdemir, Mustafa Caliskan and Erman Cakal
Content type: Research article
| 16 May 2019

The prevalence of CGG repeat expansion mutation in FMR1 gene in the northern Chinese women of reproductive age

Authors: Yinan Ma, Xing Wei, Hong Pan, Songtao Wang, Xin Wang, Xiaowei Liu, Liying Zou, Xiaomei Wang, Xiaorong Wang, Hua Yang, Fengying Wang, Kefang Wang, Lifang Sun, Xiaolin Qiao, Yue Yang, Xiuhua Ma…
Content type: Research article
| 14 May 2019

Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene

Authors: Huifang Yan, Zhen Shi, Ye Wu, Jiangxi Xiao, Qiang Gu, Yanling Yang, Ming Li, Kai Gao, Yinyin Chen, Xiaoping Yang, Haoran Ji, Binbin Cao, Ruoyu Duan, Yuwu Jiang and Jingmin Wang

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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

Manuscript Editor

Anne Menard, BioMed Central, UK

Assistant Editor

Bethan Wicker, BioMed Central, UK

Section Editors

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

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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.

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Standards of reporting

BMC Medical Genetics advocates complete and transparent reporting of research. The BMC minimum standards of reporting checklist is intended as a tool for authors to transparently describe their research and ensure reproducibility. We encourage our authors to adhere to these standards when preparing their manuscript.

Research Data Support for authors

Research Data Support is an optional Springer Nature service available to researchers who have datasets they want to make easier to cite, share and find. Learn more about this service and the many benefits of making your data publicly available.

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Featured articles

IL-6 associates with acute chorioamnionitis and pre-term birth

Day-to-day stressors and gene methylation on cardiovascular disease and cognitive impairment

Articles

Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report

Genetic relationship between IL-10 gene polymorphisms and the risk of clinical atopic dermatitis

The VDR gene FokI polymorphism is associated with gestational diabetes mellitus in Turkish women

The prevalence of CGG repeat expansion mutation in FMR1 gene in the northern Chinese women of reproductive age

Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene

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

Manuscript Editor

Assistant Editor

Section Editors

We are recruiting new Editorial Board members

Resources for authors

Standards of reporting

Research Data Support for authors

BMC Series blog

Research on Augmented Reality in nursing still in its infancy

BMC Pregnancy and Childbirth – Highlights of 2018

How having children, and their level of education, can affect health in old age

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2017 Journal Metrics

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