BMC Medical Genetics

Featured article: Rare CNV screening in ulcerative colitis

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Genome-wide rare copy number variants contributing to risk of ulcerative colitis are identified from this multi-step case control analysis. Three rare copy number variants were reproduced in independent follow-up sample sets from twenty four in the initial panel.

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Case report

Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report

Zsolt Bánfai, Kinga Hadzsiev, Endre Pál, Katalin Komlósi, Márton Melegh, László Balikó and Béla Melegh

Published on: 19 September 2017
Research article

SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures

Jiaping Wang, Hua Gao, Xinhua Bao, Qingping Zhang, Jiarui Li, Liping Wei, Xiru Wu, Yan Chen and Shujie Yu

Published on: 18 September 2017
Research article

The (FTO) gene polymorphism is associated with metabolic syndrome risk in Egyptian females: a case- control study

Mina S. Khella, Nadia M. Hamdy, Ashraf I. Amin and Hala O. El-Mesallamy

Published on: 16 September 2017
Research article

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand

Pongsathorn Chaiyasap, Chupong Ittiwut, Chalurmpon Srichomthong, Apiruk Sangsin, Kanya Suphapeetiporn and Vorasuk Shotelersuk

Published on: 16 September 2017
Research article

Renin-angiotensin system gene polymorphisms and high blood pressure in Lithuanian children and adolescents

Sandrita Simonyte, Renata Kuciene, Jurate Medzioniene, Virginija Dulskiene and Vaiva Lesauskaite

Published on: 13 September 2017

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Research article

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients

Cibele Masotti, Camila C Ornelas, Alessandra Splendore-Gordonos, Ricardo Moura, Têmis M Félix, Nivaldo Alonso, Anamaria A Camargo and Maria Rita Passos-Bueno

Published on: 14 December 2009
Case report

Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation

Lauren S Marshall, Julie Simon, Tim Wood, Mei Peng, Renius Owen, Gary S Feldman and Michael V Zaragoza

Published on: 1 May 2013
Research article

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

Andrée-Anne Houde, Cécilia Légaré, Simon Biron, Odette Lescelleur, Laurent Biertho, Simon Marceau, André Tchernof, Marie-Claude Vohl, Marie-France Hivert and Luigi Bouchard

Published on: 1 May 2015
Review

Genetic studies of the Roma (Gypsies): a review

Luba Kalaydjieva, David Gresham and Francesc Calafell

Published on: 2 April 2001
Research article

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

Mohd Nazif Darawi, Chin Ai-Vyrn, Kalavathy Ramasamy, Philip Poi Jun Hua, Tan Maw Pin, Shahrul Bahyah Kamaruzzaman and Abu Bakar Abdul Majeed

Published on: 19 February 2013

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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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Behind the Image: Camera-shy Octupi

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Podcast: Family member perceptions of OCD

Published on: 21 September 2017
Possible effects of raising tobacco taxes across the EU

Published on: 21 September 2017