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BMC Medical Genomics

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  1. Content type: Research

    Carotid body tumor (CBT) is a form of head and neck paragangliomas (HNPGLs) arising at the bifurcation of carotid arteries. Paragangliomas are commonly associated with germline and somatic mutations involving ...

    Authors: Anastasiya V. Snezhkina, Elena N. Lukyanova, Dmitry V. Kalinin, Anatoly V. Pokrovsky, Alexey A. Dmitriev, Nadezhda V. Koroban, Elena A. Pudova, Maria S. Fedorova, Nadezhda N. Volchenko, Oleg A. Stepanov, Ekaterina A. Zhevelyuk, Sergey L. Kharitonov, Anastasiya V. Lipatova, Ivan S. Abramov, Alexander V. Golovyuk, Yegor E. Yegorov…

    Citation: BMC Medical Genomics 2018 11(Suppl 1):17

    Published on:

    This article is part of a Supplement: Volume 11 Supplement 1

  2. Content type: Research

    Hypertension and bronchial asthma are a major issue for people’s health. As of 2014, approximately one billion adults, or ~ 22% of the world population, have had hypertension. As of 2011, 235–330 million peopl...

    Authors: Olga V. Saik, Pavel S. Demenkov, Timofey V. Ivanisenko, Elena Yu Bragina, Maxim B. Freidin, Irina A. Goncharova, Victor E. Dosenko, Olga I. Zolotareva, Ralf Hofestaedt, Inna N. Lavrik, Evgeny I. Rogaev and Vladimir A. Ivanisenko

    Citation: BMC Medical Genomics 2018 11(Suppl 1):15

    Published on:

    This article is part of a Supplement: Volume 11 Supplement 1

  3. Content type: Research

    Cell-free circulating DNA (cfDNA) is becoming a useful biopsy for noninvasive diagnosis of diseases. Microbial sequences in plasma cfDNA may provide important information to improve prognosis and treatment. We...

    Authors: Yu-Feng Huang, Yen-Ju Chen, Tan-Chi Fan, Nai-Chuan Chang, Yi-Jie Chen, Mohit K. Midha, Tzu-Han Chen, Hsiao-Hsiang Yang, Yu-Tai Wang, Alice L. Yu and Kuo-Ping Chiu

    Citation: BMC Medical Genomics 2018 11(Suppl 1):16

    Published on:

    This article is part of a Supplement: Volume 11 Supplement 1

  4. Content type: Research article

    The usage of Artificial Neural Networks (ANNs) for genome-enabled classifications and establishing genome-phenotype correlations have been investigated more extensively over the past few years. The reason for ...

    Authors: Aida Catic, Lejla Gurbeta, Amina Kurtovic-Kozaric, Senad Mehmedbasic and Almir Badnjevic

    Citation: BMC Medical Genomics 2018 11:19

    Published on:

  5. Content type: Research

    Small molecule Nutlin-3 reactivates p53 in cancer cells by interacting with the complex between p53 and its repressor Mdm-2 and causing an increase in cancer cell apoptosis. Therefore, Nutlin-3 has potent anti...

    Authors: Ulyana Boyarskikh, Sergey Pintus, Nikita Mandrik, Daria Stelmashenko, Ilya Kiselev, Ivan Evshin, Ruslan Sharipov, Philip Stegmaier, Fedor Kolpakov, Maxim Filipenko and Alexander Kel

    Citation: BMC Medical Genomics 2018 11(Suppl 1):12

    Published on:

    This article is part of a Supplement: Volume 11 Supplement 1

  6. Content type: Research

    Cystic fibrosis (CF) is one of the most common life-threatening genetic disorders. Around 2000 variants in the CFTR gene have been identified, with some proportion known to be pathogenic and 300 disease-causin...

    Authors: Maxim Ivanov, Alina Matsvay, Olga Glazova, Stanislav Krasovskiy, Mariya Usacheva, Elena Amelina, Aleksandr Chernyak, Mikhail Ivanov, Sergey Musienko, Timofey Prodanov, Sergey Kovalenko, Ancha Baranova and Kamil Khafizov

    Citation: BMC Medical Genomics 2018 11(Suppl 1):13

    Published on:

    This article is part of a Supplement: Volume 11 Supplement 1

  7. Content type: Research article

    This article investigates the genomic knowledge of oncology care physicians in the adoption of clinical genomics. We apply Rogers’ knowledge framework from his diffusion of innovation theory to identify three ...

    Authors: Vu T. Dung Ha, Julie Frizzo-Barker and Peter Chow-White

    Citation: BMC Medical Genomics 2018 11:18

    Published on:

  8. Content type: Research

    Laminins are a major family of extracellular matrix proteins and the main component of basement membranes. Laminins are involved in many if not all stages of cancer progression, and expression of laminin genes...

    Authors: Vladimir V. Galatenko, Diana V. Maltseva, Alexey V. Galatenko, Sergey Rodin and Alexander G. Tonevitsky

    Citation: BMC Medical Genomics 2018 11(Suppl 1):9

    Published on:

    This article is part of a Supplement: Volume 11 Supplement 1

  9. Content type: Research

    Oscillations of different origin, period and amplitude play an important role in the regulation of cellular processes. Most widely studied is the circadian or approximately daily variation in gene expression a...

    Authors: Abeer Fadda, Mohammed El Anbari and Andrey Ptitsyn

    Citation: BMC Medical Genomics 2018 11(Suppl 1):14

    Published on:

    This article is part of a Supplement: Volume 11 Supplement 1

  10. Content type: Case Report

    Primary microcephaly represents an example of clinically and genetically heterogeneous condition. Here we describe a case of primary microcephaly from the Karachay-Cherkess Republic, which was initially diagno...

    Authors: Andrey V. Marakhonov, Fedor A. Konovalov, Amin Kh. Makaov, Tatyana A. Vasilyeva, Vitaly V. Kadyshev, Varvara A. Galkina, Elena L. Dadali, Sergey I. Kutsev and Rena A. Zinchenko

    Citation: BMC Medical Genomics 2018 11(Suppl 1):8

    Published on:

    This article is part of a Supplement: Volume 11 Supplement 1

  11. Content type: Research article

    Human aging is a hot topic in biology, and it has been associated with DNA methylation changes at specific genomic sites. We aimed to study the changes of DNA methylation at a single-CpG-site resolution using ...

    Authors: Qian Zeng, Xiaoping Chen, Chaoxue Ning, Qiao Zhu, Yao Yao, Yali Zhao and Fuxin Luan

    Citation: BMC Medical Genomics 2018 11:7

    Published on:

  12. Content type: Research article

    We intended to evaluate diagnostic utility of a targeted gene sequencing by using next generation sequencing (NGS) panel in patients with intractable early-onset epilepsy (EOE) and find the efficient analytica...

    Authors: John Hoon Rim, Se Hee Kim, In Sik Hwang, Soon Sung Kwon, Jieun Kim, Hyun Woo Kim, Min Jung Cho, Ara Ko, Song Ee Youn, Jihun Kim, Young Mock Lee, Hee Jung Chung, Joon Soo Lee, Heung Dong Kim, Jong Rak Choi, Seung-Tae Lee…

    Citation: BMC Medical Genomics 2018 11:6

    Published on:

  13. Content type: Research article

    To address the need for more effective genomics training, beginning in 2012 the Icahn School of Medicine at Mount Sinai has offered a unique laboratory-style graduate genomics course, “Practical Analysis of Yo...

    Authors: Michael D. Linderman, Saskia C. Sanderson, Ali Bashir, George A. Diaz, Andrew Kasarskis, Randi Zinberg, Milind Mahajan, Sabrina A. Suckiel, Micol Zweig and Eric E. Schadt

    Citation: BMC Medical Genomics 2018 11:5

    Published on:

  14. Content type: Research article

    Ritodrine is a commonly used tocolytic to prevent preterm labour. However, it can cause unexpected serious adverse reactions, such as pulmonary oedema, pulmonary congestion, and tachycardia. It is unknown whet...

    Authors: Heewon Seo, Eun Jin Kwon, Young-Ah You, Yoomi Park, Byung Joo Min, Kyunghun Yoo, Han-Sung Hwang, Ju Han Kim and Young Ju Kim

    Citation: BMC Medical Genomics 2018 11:4

    Published on:

  15. Content type: Research article

    Genome-wide association studies (GWASs) have revealed relationships between over 57,000 genetic variants and diseases. However, unlike Mendelian diseases, complex diseases arise from the interplay of multiple ...

    Authors: Takashi Kido, Weronika Sikora-Wohlfeld, Minae Kawashima, Shinichi Kikuchi, Naoyuki Kamatani, Anil Patwardhan, Richard Chen, Marina Sirota, Keiichi Kodama, Dexter Hadley and Atul J. Butte

    Citation: BMC Medical Genomics 2018 11:3

    Published on:

  16. Content type: Research article

    Cardiovascular diseases (CVDs) are the leading cause of non-communicable disease deaths globally, with hypertension being a major risk factor contributing to CVDs. Blood pressure is a heritable trait, with rel...

    Authors: Liesl M. Hendry, Venesa Sahibdeen, Ananyo Choudhury, Shane A. Norris, Michèle Ramsay and Zané Lombard

    Citation: BMC Medical Genomics 2018 11:2

    Published on:

  17. Content type: Research article

    Cardiovascular disease and its sequelae are major causes of global mortality, and better methods are needed to identify patients at risk for future cardiovascular events. Gene expression analysis can inform on...

    Authors: James A. Wingrove, Karen Fitch, Brian Rhees, Steven Rosenberg and Deepak Voora

    Citation: BMC Medical Genomics 2018 11:1

    Published on:

  18. Content type: Research

    Accurately predicting pathogenic human genes has been challenging in recent research. Considering extensive gene–disease data verified by biological experiments, we can apply computational methods to perform a...

    Authors: Xiangxiang Zeng, Ningxiang Ding, Alfonso Rodríguez-Patón and Quan Zou

    Citation: BMC Medical Genomics 2017 10(Suppl 5):76

    Published on:

    This article is part of a Supplement: Volume 10 Supplement 5

  19. Content type: Research

    A large number of long intergenic non-coding RNAs (lincRNAs) are linked to a broad spectrum of human diseases. The disease association with many other lincRNAs still remain as puzzle. Validation of such links ...

    Authors: Ashis Kumer Biswas, Dongchul Kim, Mingon Kang, Chris Ding and Jean X. Gao

    Citation: BMC Medical Genomics 2017 10(Suppl 5):77

    Published on:

    This article is part of a Supplement: Volume 10 Supplement 5

  20. Content type: Research

    Recent advances in omics technologies have raised great opportunities to study large-scale regulatory networks inside the cell. In addition, single-cell experiments have measured the gene and protein activitie...

    Authors: Jiangyong Wei, Xiaohua Hu, Xiufen Zou and Tianhai Tian

    Citation: BMC Medical Genomics 2017 10(Suppl 5):72

    Published on:

    This article is part of a Supplement: Volume 10 Supplement 5

  21. Content type: Research

    Identifying protein complexes plays an important role for understanding cellular organization and functional mechanisms. As plenty of evidences have indicated that dense sub-networks in dynamic protein-protein...

    Authors: Xiujuan Lei, Huan Li, Aidong Zhang and Fang-Xiang Wu

    Citation: BMC Medical Genomics 2017 10(Suppl 5):80

    Published on:

    This article is part of a Supplement: Volume 10 Supplement 5

  22. Content type: Research

    Automatic disease named entity recognition (DNER) is of utmost importance for development of more sophisticated BioNLP tools. However, most conventional CRF based DNER systems rely on well-designed features wh...

    Authors: Zhehuan Zhao, Zhihao Yang, Ling Luo, Lei Wang, Yin Zhang, Hongfei Lin and Jian Wang

    Citation: BMC Medical Genomics 2017 10(Suppl 5):73

    Published on:

    This article is part of a Supplement: Volume 10 Supplement 5

  23. Content type: Research

    Similar diseases are always caused by similar molecular origins, such as diasease-related protein-coding genes (PCGs). And the molecular associations reflect their similarity. Therefore, current methods for ca...

    Authors: Yang Hu, Meng Zhou, Hongbo Shi, Hong Ju, Qinghua Jiang and Liang Cheng

    Citation: BMC Medical Genomics 2017 10(Suppl 5):71

    Published on:

    This article is part of a Supplement: Volume 10 Supplement 5

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