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Medical Genetics

  1. Content type: Short Report

    The estrogen-induced gene 121 (EIG121) has been associated with breast and endometrial cancers, but its mechanism of action remains unknown. In a genome-wide search for tandem repeats, we found that EIG121 contai...

    Authors: Katherine A. Bolton, Elizabeth G. Holliday, John Attia, Nikola A. Bowden, Kelly A. Avery-Kiejda and Rodney J. Scott

    Citation: BMC Research Notes 2016 9:287

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  2. Content type: Research article

    After the discovery that cell-free fetal DNA (cffDNA) is circulating in the maternal plasma of pregnant women, non-invasive prenatal diagnosis for fetal RhD in maternal plasma in RhD negative women at risk for...

    Authors: Thessalia Papasavva, Pete Martin, Tobias J. Legler, Marios Liasides, George Anastasiou, Agathoklis Christofides, Tasos Christodoulou, Sotos Demetriou, Prokopis Kerimis, Charis Kontos, George Leontiades, Demetris Papapetrou, Telis Patroclos, Marios Phylaktou, Nikos Zottis, Eleni Karitzie…

    Citation: BMC Research Notes 2016 9:198

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  3. Content type: Short Report

    Previous genome-wide association studies have evaluated the impact of common genetic variants and identified several non-HLA risk loci associated with autoimmune liver diseases. More recent genome-wide associa...

    Authors: Kiyoshi Migita, Yuka Jiuchi, Hiroshi Furukawa, Minoru Nakamura, Atsumasa Komori, Michio Yasunami, Hideko Kozuru, Seigo Abiru, Kazumi Yamasaki, Shinya Nagaoka, Satoru Hashimoto, Shigemune Bekki, Kaname Yoshizawa, Masaaki Shimada, Hiroshi Kouno, Hiroshi Kamitsukasa…

    Citation: BMC Research Notes 2015 8:777

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  4. Content type: Short Report

    A pneumococcal conjugate vaccine (PCV) has been part of the Danish childhood immunization programme since October 2007. It is administered at the ages of 3, 5 and 12 months and healthy infants younger than 90 ...

    Authors: Hans-Christian Slotved, Tine Dalby and Steen Hoffmann

    Citation: BMC Research Notes 2015 8:563

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  5. Content type: Research article

    The p16-Leiden founder mutation in the CDKN2A gene is the most common cause of Familial Atypical Multiple Mole Melanoma (FAMMM) syndrome in the Netherlands. Individuals with this mutation are at increased risk fo...

    Authors: Thomas P Potjer, Nienke van der Stoep, Jeanine J Houwing-Duistermaat, Ingrid C A W Konings, Cora M Aalfs, Peter C van den Akker, Margreet G Ausems, Charlotte J Dommering, Lizet E van der Kolk, Merel C Maiburg, Liesbeth Spruijt, Anja Wagner, Hans F A Vasen and Frederik J Hes

    Citation: BMC Research Notes 2015 8:264

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  6. Content type: Research article

    Drug-induced agranulocytosis is a recognized adverse drug event associated with serious infectious complications. Levamisole is an antihelminthic and immunomodulator withdrawn from North American markets in 20...

    Authors: Jane A Buxton, John Omura, Margot Kuo, Colin Ross, Despina Tzemis, Roy Purssell, Jennifer Gardy and Bruce Carleton

    Citation: BMC Research Notes 2015 8:240

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  7. Content type: Research article

    Mitochondrial DNA maintenance disorders are an important cause of hereditary ataxia syndrome, and the majority are associated with mutations in the gene encoding the catalytic subunit of the mitochondrial DNA ...

    Authors: Ramón Zabalza, Anssi Nurminen, Laurie S Kaguni, Rafael Garesse, M Esther Gallardo and Belén Bornstein

    Citation: BMC Research Notes 2014 7:883

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  8. Content type: Short Report

    It has been suggested that polymorphisms in Toll-like Receptors (TLRs) are associated with Rheumatoid Arthritis (RA), but the implicated alleles have differed between studies. The aim of this investigation was...

    Authors: Magdalena J Laska, Bettina Hansen, Anne Troldborg, Tove Lorenzen, Kristian Stengaard-Pedersen, Peter Junker, Bjørn A Nexø and Hanne M Lindegaard

    Citation: BMC Research Notes 2014 7:716

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  9. Content type: Research article

    Inflammatory bowel diseases (IBD) are chronic diseases of the gastrointestinal tract. Although their pathogenesis is unclear, the combination of genetic predisposition and environmental components are believed...

    Authors: Nadia Serbati, Nezha Senhaji, Brehima Diakite, Wafaa Badre and Sellama Nadifi

    Citation: BMC Research Notes 2014 7:570

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  10. Content type: Research article

    The importance of mitochondrial DNA (mtDNA) polymorphism in the prediction of type 2 diabetes (T2D) in men and women is not well understood. We questioned whether mtDNA polymorphism, mitochondrial functions, a...

    Authors: Jun-Hun Loo, Jean A Trejaut, Ju-Chen Yen, Zong-Sian Chen, Wai-Mei Ng, Chin-Yuan Huang, Kuang-Nan Hsu, Kuo-Hua Hung, Yachun Hsiao, Yau-Huei Wei and Marie Lin

    Citation: BMC Research Notes 2014 7:223

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