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
| 22 May 2019

Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency

Authors: Ping Wang, Fengying Cai, Lirong Cao, Yizheng Wang, Qianqian Zou, Peng Zhao, Chao Wang, Yuqin Zhang, Chunquan Cai and Jianbo Shu
Content type: Research article
| 22 May 2019

Association of NTCP polymorphisms with clinical outcome of hepatitis B infection in Thai individuals

Authors: Natthaya Chuaypen, Nongnaput Tuyapala, Nutcha Pinjaroen, Sunchai Payungporn and Pisit Tangkijvanich
Content type: Research article
| 22 May 2019

Gene spectrum analysis of thalassemia for people residing in northern China

Authors: Zhuo Yang, Wenzhe Zhou, Quexuan Cui, Ling Qiu and Bing Han
Content type: Case report
| 20 May 2019

A patient with glycogen storage disease type Ia combined with chronic hepatitis B infection: a case report

Authors: Wenying Wang, Rentao Yu, Wenting Tan, Yunjie Dan, Guohong Deng and Jie Xia
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

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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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Promoting the competition: A randomized trial of cash incentives for postnatal care referrals by Traditional Birth Attendants

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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

Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency

Association of NTCP polymorphisms with clinical outcome of hepatitis B infection in Thai individuals

Gene spectrum analysis of thalassemia for people residing in northern China

A patient with glycogen storage disease type Ia combined with chronic hepatitis B infection: a case report

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

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

Highlights of the BMC Series: April 2019

Highlights of the BMC Series: March 2019

Promoting the competition: A randomized trial of cash incentives for postnatal care referrals by Traditional Birth Attendants

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