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: Case report
| 16 July 2018

The most 5′ truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report

Authors: Chulaluck Kuptanon, Chalurmpon Srichomthong, Apiruk Sangsin, Dool Kovitvanitcha, Kanya Suphapeetiporn and Vorasuk Shotelersuk
Content type: Research article
| 13 July 2018

Association between DSCAM polymorphisms and non-syndromic Hirschsprung disease in Chinese population

Authors: Yong Wang, Qiuming He, Ruizhong Zhang, Wei Zhong, Deli Zhu, Yan Zhang and Huimin Xia
Content type: Case report
| 11 July 2018

Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling

Authors: Yılmaz Kor, Minjing Zou, Roua A. Al-Rijjal, Dorota Monies, Brian F. Meyer and Yufei Shi
Content type: Research article
| 11 July 2018

Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings

Authors: Yiming Lin, Chunmei Lin, Weihua Lin, Zhenzhu Zheng, Mingya Han and Qingliu Fu
Content type: Research article
| 9 July 2018

Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations

Authors: Artur Beke, Henriett Piko, Iren Haltrich, Veronika Karcagi, Janos Rigo Jr., Maria Judit Molnar and György Fekete

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: 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
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

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

Chronic sleep deprivation could be an important driver of depression in young women

16 July 2018
Brains versus brawn: reduced brain investment in army ant soldiers

13 July 2018
Deep genetic divergence among Bale monkeys in continuous forest and forest fragments

10 July 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

The most 5′ truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report

Association between DSCAM polymorphisms and non-syndromic Hirschsprung disease in Chinese population

Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling

Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings

Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations

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

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

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

Aims and scope

Editor

Section Editors

Data Support Services pilot

BMC Series blog

Chronic sleep deprivation could be an important driver of depression in young women

Brains versus brawn: reduced brain investment in army ant soldiers

Deep genetic divergence among Bale monkeys in continuous forest and forest fragments

Latest Tweets

2017 Journal Metrics

Follow

BMC Medical Genetics

Contact us