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BMC Medical Genetics

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  1. Content type: Research article

    Obesity is a well-recognized risk factor for insulin resistance and type 2 diabetes (T2D), although the precise mechanisms underlying the relationship remain unknown. In this study we identified alterations of...

    Authors: Francisco Barajas-Olmos, Federico Centeno-Cruz, Carlos Zerrweck, Iván Imaz-Rosshandler, Angélica Martínez-Hernández, Emilio J. Cordova, Claudia Rangel-Escareño, Faustino Gálvez, Armando Castillo, Hernán Maydón, Francisco Campos, Diana Gabriela Maldonado-Pintado and Lorena Orozco

    Citation: BMC Medical Genetics 2018 19:28

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  2. Content type: Research article

    The genetic mechanisms for families who meet the clinical criteria for Lynch syndrome (LS) but do not carry pathogenic variants in the mismatch repair (MMR) genes are still undetermined. We aimed to study the ...

    Authors: Mev Dominguez-Valentin, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M. Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller and Eivind Hovig

    Citation: BMC Medical Genetics 2018 19:26

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  3. Content type: Case report

    L-2-hydroxyglutaric aciduria (L2HGA) is a progressive neurometabolic disease of brain caused by mutations of in L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. Cardinal clinical features include cerebellar atax...

    Authors: Muhammad Ikram Ullah, Abdul Nasir, Arsalan Ahmad, Gaurav Vijay Harlalka, Wasim Ahmad, Muhammad Jawad Hassan, Emma L. Baple, Andrew H. Crosby and Barry A. Chioza

    Citation: BMC Medical Genetics 2018 19:25

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  4. Content type: Research article

    Rheumatic heart disease (RHD) is an autoimmune disease triggered by acute rheumatic fever (ARF). Matrix metalloproteinases (MMPs) play an important role in the modulation of immune responses. The purpose of this ...

    Authors: Wei Hu, Yujia Ye, Yirui Yin, Peng Sang, Linhua Li, Jing Wang, Wen Wan, Rui Li, Xiangfeng Bai, Yuehui Xie and Zhaohui Meng

    Citation: BMC Medical Genetics 2018 19:27

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  5. Content type: Research article

    Imputation involves the inference of untyped single nucleotide polymorphisms (SNPs) in genome-wide association studies. The haplotypic reference of choice for imputation in Southeast Asian populations is uncle...

    Authors: Worachart Lert-itthiporn, Bhoom Suktitipat, Harald Grove, Anavaj Sakuntabhai, Prida Malasit, Nattaya Tangthawornchaikul, Fumihiko Matsuda and Prapat Suriyaphol

    Citation: BMC Medical Genetics 2018 19:23

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  6. Content type: Research article

    Maturity-onset diabetes of the young (MODY) is an early-onset, autosomal dominant form of non-insulin dependent diabetes. Genetic diagnosis of MODY can transform patient management. Earlier data on the genetic...

    Authors: Viswanathan Mohan, Venkatesan Radha, Thong T. Nguyen, Eric W. Stawiski, Kanika Bajaj Pahuja, Leonard D. Goldstein, Jennifer Tom, Ranjit Mohan Anjana, Monica Kong-Beltran, Tushar Bhangale, Suresh Jahnavi, Radhakrishnan Chandni, Vijay Gayathri, Paul George, Na Zhang, Sakthivel Murugan…

    Citation: BMC Medical Genetics 2018 19:22

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  7. Content type: Research article

    Some Hirschsprung’s disease (HSCR) patients showed persistent bowel symptoms following an appropriately performed pull-through procedure. The mechanism is presumed to be down-regulated small-conductance calcium-a...

    Authors: Gunadi, Mukhamad Sunardi, Nova Yuli Prasetyo Budi, Alvin Santoso Kalim, Kristy Iskandar and Andi Dwihantoro

    Citation: BMC Medical Genetics 2018 19:24

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  8. Content type: Case report

    Neuronal ceroid lipofuscinoses (NCLs) are one of the most frequent childhood-onset neurodegenerative pathologies characterized by seizures, progressive cognitive decline, motor impairment and loss of vision. F...

    Authors: Zhijie Gao, Hua Xie, Qian Jiang, Nan Wu, Xiaoli Chen and Qian Chen

    Citation: BMC Medical Genetics 2018 19:21

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  9. Content type: Case report

    Benign metastasizing leiomyoma (BML) is an orphan neoplasm commonly characterized by pulmonary metastases consisting of smooth muscle cells. Patients with BML have usually a current or previous uterine leiomyo...

    Authors: Deniss Sõritsa, Hindrek Teder, Retlav Roosipuu, Hannes Tamm, Triin Laisk-Podar, Pille Soplepmann, Alan Altraja, Andres Salumets and Maire Peters

    Citation: BMC Medical Genetics 2018 19:20

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  10. Content type: Case report

    Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder characterized by progressive cyst formation and expansion in the kidneys, which culminates in end-stage renal d...

    Authors: Wenwen Zhang, Qian Han, Zhao Liu, Wei Zhou, Qing Cao and Weimin Zhou

    Citation: BMC Medical Genetics 2018 19:19

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  11. Content type: Case report

    Van Den Ende-Gupta Syndrome (VDEGS) is an extremely rare autosomal recessive syndrome with less than 20 reported families (approximately 40 patients) in the worldwide literature.

    Authors: Mohammad M. Al-Qattan, Doaa F. Andejani, Nadia A. Sakati, Khushnooda Ramzan and Faiqa Imtiaz

    Citation: BMC Medical Genetics 2018 19:18

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  12. Content type: Research article

    Gitelman syndrome (GS) is an autosomal recessive disorder caused by genic mutations of SLC12A3 (Solute carrier family 12 member 3), which encodes the Na-Cl cotransporter (NCC), and presents with characteristic me...

    Authors: Yixin Chen, Ziyi Zhang, Xihua Lin, Qianqian Pan, Fenping Zheng and Hong Li

    Citation: BMC Medical Genetics 2018 19:17

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  13. Content type: Research article

    Preimplantation genetic diagnosis (PGD) is a powerful tool for preventing the transmission of Mendelian disorders from generation to generation. However, PGD only can identify monogenically inherited diseases,...

    Authors: Wen-Bin He, Yue-Qiu Tan, Xiao Hu, Wen Li, Bo Xiong, Ke-Li Luo, Fei Gong, Guang-Xiu Lu, Ge Lin and Juan Du

    Citation: BMC Medical Genetics 2018 19:15

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  14. Content type: Research article

    Brain-derived neurotrophic factor (BDNF) is one of the most abundant neurotrophins in the adult brain, and it plays important roles in modulating synaptic plasticity and synaptogenesis. This study attempted to...

    Authors: Yu-Jia Wang, Kai-Yun Chen, Li-Na Kuo, Wen-Chang Wang, Yu-Wen Hsu, Henry Sung-Ching Wong, Chien-Min Lin, Kuo-Hsing Liao, Yan-Feng Zhang, Yung-Hsiao Chiang and Wei-Chiao Chang

    Citation: BMC Medical Genetics 2018 19:13

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  15. Content type: Research article

    Birt-Hogg-Dubé syndrome is an autosomal dominant hereditary condition caused by mutations in the folliculin-encoding gene FLCN (NM_144997). It is associated with skin lesions such as fibrofolliculoma, acrochordon...

    Authors: Xiaocan Hou, Yuan Zhou, Yun Peng, Rong Qiu, Kun Xia, Beisha Tang, Wei Zhuang and Hong Jiang

    Citation: BMC Medical Genetics 2018 19:14

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  16. Content type: Research article

    FANCM and RECQL have recently been reported as breast cancer susceptibility genes and it has been suggested that they should be included on gene panel tests for breast cancer predisposition. However, the clinical...

    Authors: Tú Nguyen-Dumont, Aleksander Myszka, Pawel Karpinski, Maria M. Sasiadek, Hayane Akopyan, Fleur Hammet, Helen Tsimiklis, Daniel J. Park, Bernard J. Pope, Ryszard Slezak, Nataliya Kitsera, Aleksandra Siekierzynska and Melissa C. Southey

    Citation: BMC Medical Genetics 2018 19:12

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  17. Content type: Research article

    Obesity is a metabolic disease that is widely prevalent with approximately 600 million people classified as obese worldwide. Its etiology is multifactorial and involves a complex interplay between genes and th...

    Authors: Saad Mahmud Khan, Sarah El Hajj Chehadeh, Mehera Abdulrahman, Wael Osman and Habiba Al Safar

    Citation: BMC Medical Genetics 2018 19:11

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  18. Content type: Research article

    The genome-wide association study has founded hypertension-related single nucleotide polymorphism (SNP) rs11191548 near CYP17A1 encoding a key enzyme involved in steroid metabolism, but the molecular mechanisms a...

    Authors: Lijun Wu, Liwang Gao, Xiaoyuan Zhao, Meixian Zhang, Jianxin Wu and Jie Mi

    Citation: BMC Medical Genetics 2018 19:9

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  19. Content type: Case report

    Osteogenesis imperfecta (OI) is a rare primarily autosomal dominant condition in which the connective tissues of bones, ligaments and sclerae do not form properly. Typically, mutations in COL1A1 and COL1A2 genes ...

    Authors: Paolo Scollo, Martin Paul Snead, Allan James Richards, Rebecca Pollitt and Catherine DeVile

    Citation: BMC Medical Genetics 2018 19:8

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  20. Content type: Case report

    Fanconi anemia (FA) is an inherited genomic instability disorder with congenital and developmental abnormalities, bone marrow failure and predisposition to cancer early in life, and cellular sensitivity to DNA...

    Authors: Isabell Popp, Maqsood Punekar, Nick Telford, Stavros Stivaros, Kate Chandler, Meenakshi Minnis, Anna Castleton, Claire Higham, Louise Hopewell, D. Gareth Evans, Anja Raams, Arjan F. Theil, Stefan Meyer and Detlev Schindler

    Citation: BMC Medical Genetics 2018 19:7

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  21. Content type: Correction

    Following publication of the original article [1], the authors reported an error in Table 3 on page 4. Variant No. 18 should be “p.​Ser339Phe c.​1016C>T” (as g...

    Authors: Ning Liu, Qiuying Huang, Qingge Li, Dehua Zhao, Xiaole Li, Lixia Cui, Ying Bai, Yin Feng and Xiangdong Kong

    Citation: BMC Medical Genetics 2018 19:6

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    The original article was published in BMC Medical Genetics 2017 18:108

  22. Content type: Research article

    Hereditary hemochromatosis (HH) encompasses a group of autosomal recessive disorders mainly characterized by enhanced intestinal absorption of iron and its accumulation in parenchymal organs. HH diagnosis is b...

    Authors: Paula Fernanda Silva Fonseca, Rodolfo Delfini Cançado, Flavio Augusto Naoum, Carla Luana Dinardo, Guilherme Henrique Hencklain Fonseca, Sandra Fatima Menosi Gualandro, José Eduardo Krieger, Alexandre Costa Pereira, Pierre Brissot and Paulo Caleb Junior Lima Santos

    Citation: BMC Medical Genetics 2018 19:3

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  23. Content type: Research article

    Non-ketotic hyperglycinemia (NKH) is a rare, devastating autosomal recessive disorder of glycine metabolism with a very poor prognosis. Currently, few studies have reported genetic profiling of Chinese NKH pat...

    Authors: Yiming Lin, Zhenzhu Zheng, Wenjia Sun and Qingliu Fu

    Citation: BMC Medical Genetics 2018 19:5

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