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
| 11 October 2018

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

Authors: Anna Caciotti, Rodolfo Tonin, Matthew Mort, David N. Cooper, Serena Gasperini, Miriam Rigoldi, Rossella Parini, Federica Deodato, Roberta Taurisano, Michelina Sibilio, Giancarlo Parenti, Renzo Guerrini and Amelia Morrone
Content type: Case report
| 11 October 2018

De novo mutations in SCN1A are associated with classic Rett syndrome: a case report

Authors: Mari Wold Henriksen, Kirstine Ravn, Benedicte Paus, Stephen von Tetzchner and Ola H Skjeldal
Content type: Technical advance
| 5 October 2018

Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth

Authors: Bhavi P. Modi, Hardik I. Parikh, Maria E. Teves, Rewa Kulkarni, Jiang Liyu, Roberto Romero, Timothy P. York and Jerome F. Strauss III
Content type: Research article
| 5 October 2018

Association between acromegaly and a single nucleotide polymorphism (rs2854744) in the IGFBP3 gene

Authors: Ming Gao, Bin Zhu, Zhe Xu, Shujun Liu, Jiajia Liu, Guojun Zhang, Yang Gao, Yubo Fan and Xixiong Kang
Content type: Correspondence
| 4 October 2018

Comment on “report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I”

Authors: Edina Poletto, Ursula Matte and Guilherme Baldo

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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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Media multitasking may be linked to altered perception of other people

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No genes for the “broken hearted”

Featured article: Neurotrophins and emotions after mild traumatic brain injury

We are recruiting new Editorial Board members

Articles

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

De novo mutations in SCN1A are associated with classic Rett syndrome: a case report

Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth

Association between acromegaly and a single nucleotide polymorphism (rs2854744) in the IGFBP3 gene

Comment on “report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I”

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

Media multitasking may be linked to altered perception of other people

Increase in non-drinking widespread among young people

Highlights of the BMC series: September 2018

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