BMC Medical Genetics - oalib

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BMC Medical Genetics

ISSN Print: 1471-2350

ISSN Online:

主页: http://www.biomedcentral.com/bmcmedgenet

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High prevalence of germline STK11 mutations in Hungarian Peutz-Jeghers Syndrome patients

Janos Papp, Marietta Kovacs, Szilvia Solyom, Miklos Kasler, Anne-Lise B？rresen-Dale, Edith Olah

Genetic polymorphisms in the endothelial nitric oxide synthase gene correlate with overall survival in advanced non-small-cell lung cancer patients treated with platinum-based doublet chemotherapy

Shiro Fujita, Katsuhiro Masago, Yukimasa Hatachi, Akiko Fukuhara, Akito Hata, Reiko Kaji, Young Kim, Tadashi Mio, Michiaki Mishima, Nobuyuki Katakami

Analyses of association between PPAR gamma and EPHX1 polymorphisms and susceptibility to COPD in a Hungarian cohort, a case-control study

Andras Penyige, Szilard Poliska, Eszter Csanky, Beata Scholtz, Balazs Dezso, Ivan Schmelczer, Iain Kilty, Laszlo Takacs, Laszlo Nagy

The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function

Roman Makarov, Bernhard Steiner, Zoran Gucev, Velibor Tasic, Peter Wieacker, Ilse Wieland

Association of the rs738409 polymorphism in PNPLA3 with liver damage and the development of nonalcoholic fatty liver disease

Kikuko Hotta, Masato Yoneda, Hideyuki Hyogo, Hidenori Ochi, Seiho Mizusawa, Takato Ueno, Kazuaki Chayama, Atsushi Nakajima, Kazuwa Nakao, Akihiro Sekine

Association of the genetic polymorphisms of the ACE gene and the eNOS gene with lupus nephropathy in northern Chinese population

X Li, J An, R Guo, Z Jin, Y Li, Y Zhao, F Lu, H Lian, P Liu, Y Zhao, X Jin

Genetic variants in the TIRAP gene are associated with increased risk of sepsis-associated acute lung injury

Zhenju Song, Chaoyang Tong, Zhan Sun, Yao Shen, Chenling Yao, Jinjun Jiang, Jun Yin, Lei Gao, Yuanlin Song, Chunxue Bai

Low penetrance of a SDHB mutation in a large Dutch paraganglioma family

Frederik J Hes, Marjan M Weiss, Sanne A Woortman, Noel F de Miranda, Patrick A van Bunderen, Bert A Bonsing, Marcel PM Stokkel, Hans Morreau, Johannes A Romijn, Jeroen C Jansen, Annette HJT Vriends, Jean-Pierre L Bayley, Eleonora PM Corssmit

Generation Scotland: Donor DNA Databank; A control DNA resource

Shona M Kerr, David CM Liewald, Archie Campbell, Kerrie Taylor, Sarah H Wild, David Newby, Marc Turner, David J Porteous

No association between variation in the NR4A1 gene locus and metabolic traits in white subjects at increased risk for type 2 diabetes

Karsten Müssig, Fausto Machicao, Jürgen Machann, Fritz Schick, Claus D Claussen, Norbert Stefan, Andreas Fritsche, Hans-Ulrich H？ring, Harald Staiger

Significant association between polymorphism of the erythropoietin gene promoter and myelodysplastic syndrome

Wanlong Ma, Hagop Kantarjian, Ke Zhang, Xi Zhang, Xiuqiang Wang, Clifford Chen, Amber C Donahue, Zhong Zhang, Chen-Hsiung Yeh, Susan O'Brien, Guillermo Garcia-Manero, Neil Caporaso, Ola Landgren, Maher Albitar

SNP-SNP interactions dominate the genetic architecture of candidate genes associated with left ventricular mass in african-americans of the GENOA study

Kristin J Meyers, Jian Chu, Thomas H Mosley, Sharon LR Kardia

Effect of the rs2259816 polymorphism in the HNF1A gene on circulating levels of c-reactive protein and coronary artery disease (the ludwigshafen risk and cardiovascular health study)

Marcus E Kleber, Tanja B Grammer, Wilfried Renner, Winfried M？rz

Large effects on body mass index and insulin resistance of fat mass and obesity associated gene (FTO) variants in patients with polycystic ovary syndrome (PCOS)

Susanne Tan, André Scherag, Onno Janssen, Susanne Hahn, Harald Lahner, Tiina Dietz, Susann Scherag, Harald Grallert, Carla Vogel, Rainer Kimmig, Thomas Illig, Klaus Mann, Johannes Hebebrand, Anke Hinney

PARP-1 Val762Ala polymorphism is associated with reduced risk of non-Hodgkin lymphoma in Korean males

Xue Jin, Hee Kim, Il-Kwon Lee, Kyeong-Soo Park, Hyeoung-Joon Kim, Jin-Su Choi, Sang Juhng, Chan Choi

Association of Nrf2-encoding NFE2L2 haplotypes with Parkinson's disease

Malin von Otter, Sara Landgren, Staffan Nilsson, Dragana Celojevic, Petra Bergstr？m, Anna H？kansson, Hans Nissbrandt, Marek Drozdzik, Monika Bialecka, Mateusz Kurzawski, Kaj Blennow, Michael Nilsson, Ola Hammarsten, Henrik Zetterberg

Matrix metalloproteinase-9 gene polymorphisms in nasal polyposis

Ling-Feng Wang, Chen-Yu Chien, Chih-Feng Tai, Wen-Rei Kuo, Edward Hsi, Suh-Hang Juo

Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study

Marieke E Teeuw, Lidewij Henneman, Zoltan Bochdanovits, Peter Heutink, Dirk J Kuik, Martina C Cornel, Leo P ten Kate

Estrogen Receptor-Beta Gene Polymorphism in women with Breast Cancer at the Imam Khomeini Hospital Complex, Iran

Sakineh Abbasi

Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa

Yukan Huang, Jing Zhang, Chang Li, Guohua Yang, Mugen Liu, Qing K Wang, Zhaohui Tang

Dopamine D2 receptor polymorphisms and susceptibility to alcohol dependence in Indian males: a preliminary study

Pushplata Prasad, Atul Ambekar, Meera Vaswani

Nuclear Factor (NF) κB polymorphism is associated with heart function in patients with heart failure

Diogo GB Santos, Marina F Resende, José G Mill, Alfredo J Mansur, José E Krieger, Alexandre C Pereira

Loss of balancing selection in the βS globin locus

Niven A Salih, Ayman A Hussain, Ibrahim A Almugtaba, Abeir M Elzein, Ibrahim M Elhassan, Eltahir AG Khalil, Hani B Ishag, Hiba S Mohammed, Dominic Kwiatkowski, Muntaser E Ibrahim

Association of obesity risk SNPs in PCSK1 with insulin sensitivity and proinsulin conversion

Martin Heni, Axel Haupt, Silke A Sch？fer, Caroline Ketterer, Claus Thamer, Fausto Machicao, Norbert Stefan, Harald Staiger, Hans-Ulrich H？ring, Andreas Fritsche

Genetic evidence of multiple loci in dystocia - difficult labour

Michael Algovik, Katja Kivinen, Hanna Peterson, Magnus Westgren, Juha Kere

Adult case of partial trisomy 9q

Keith Tiong, Andrew Cotterill, Henrik Falhammar

The polymorphism rs3024505 proximal to IL-10 is associated with risk of ulcerative colitis and Crohns disease in a Danish case-control study

Vibeke Andersen, Anja Ernst, Jane Christensen, Mette ？stergaard, Bent A Jacobsen, Anne Tj？nneland, Henrik B Krarup, Ulla Vogel

The G-Protein β3 subunit 825 TT genotype is associated with epigastric pain syndrome-like dyspepsia

Tadayuki Oshima, Shigemi Nakajima, Tetsuji Yokoyama, Fumihiko Toyoshima, Jun Sakurai, Junji Tanaka, Toshihiko Tomita, Yongmin Kim, Kazutoshi Hori, Takayuki Matsumoto, Hiroto Miwa

Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates

Bassam R Ali, Nadia A Akawi, Faris Chedid, Mahmood Bakir, Moghis Ur Rehman, Aiman Rahmani, Lihadh Al-Gazali

The common rs9939609 variant of the fat mass and obesity-associated gene is associated with obesity risk in children and adolescents of Beijing, China

Bo Xi, Yue Shen, Meixian Zhang, Xin Liu, Xiaoyuan Zhao, Lijun Wu, Hong Cheng, Dongqing Hou, Klaus Lindpaintner, Lisheng Liu, Jie Mi, Xingyu Wang

Polymorphisms in IL-1β, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis

Alison A Motsinger-Reif, Paulo RZ Antas, Noffisat O Oki, Shawn Levy, Steven M Holland, Timothy R Sterling

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family

Sevjidmaa Baasanjav, Aleksander Jamsheer, Mateusz Kolanczyk, Denise Horn, Tomasz Latos, Katrin Hoffmann, Anna Latos-Bielenska, Stefan Mundlos

Association of the apolipoprotein A5 gene -1131 T>C polymorphism with fasting blood lipids: a meta-analysis in 37859 subjects

Tongfeng Zhao, Jiangpei Zhao

Toll-like receptor 2 gene polymorphisms, pulmonary tuberculosis, and natural killer cell counts

Yung-Che Chen, Chang-Chun Hsiao, Chung-Jen Chen, Chien-Hung Chin, Shih-Feng Liu, Chao-Chien Wu, Hock-Liew Eng, Tung-Ying Chao, Chia-Cheng Tsen, Yi-Hsi Wang, Meng-Chih Lin

Chromosome 7p linkage and association study for diabetes related traits and type 2 diabetes in an African-American population enriched for nephropathy

Tennille S Leak, Carl D Langefeld, Keith L Keene, Carla J Gallagher, Lingyi Lu, Josyf C Mychaleckyj, Stephen S Rich, Barry I Freedman, Donald W Bowden, Michèle M Sale

Leptin receptor (LEPR) SNP polymorphisms in HELLP syndrome patients determined by quantitative real-time PCR and melting curve analysis

Tibor Várkonyi, Levente Lázár, Attila Molvarec, Nándor Than, János Rigó, Bálint Nagy

Study of the serotonin transporter (SLC6A4) and BDNF genes in French patients with non syndromic mental deficiency

Refaat Tabagh, Christian R Andres, Sylviane Védrine, Catherine Cherpi-Antar, Rose-Anne Thepault, Laurence Mignon, Diane Dufour-Rainfray, Claude Moraine, Patrick Vourc'h

Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility

Daniela Formicola, Andrea Aloia, Simone Sampaolo, Olimpia Farina, Daria Diodato, Lyn R Griffiths, Fernando Gianfrancesco, Giuseppe Di Iorio, Teresa Esposito

Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder

Richard Delorme, Daniel Moreno-De-Luca, Aurélie Gennetier, Wolfgang Maier, Pauline Chaste, Rainald M？ssner, Hans Grabe, Stephan Ruhrmann, Peter Falkai, Marie-Christine Mouren, Marion Leboyer, Michael Wagner, Catalina Betancur

1Novel MEFV transcripts in Familial Mediterranean fever patients and controls

Myrna Medlej-Hashim, Nancy Nehme, Eliane Chouery, Nadine Jalkh, André Megarbane

Maternal angiotensinogen (AGT) haplotypes, fetal renin (REN) haplotypes and risk of preeclampsia; estimation of gene-gene interaction from family-triad data

Hege K Vefring, Line Wee, Astanand Jugessur, H？kon K Gjessing, Stein T Nilsen, Rolv T Lie

Sequencing of DC-SIGN promoter indicates an association between promoter variation and risk of nasopharyngeal carcinoma in cantonese

Ya-Fei Xu, Wan-Li Liu, Ju-Qin Dong, Wen-Sheng Liu, Qi-Sheng Feng, Li-Zhen Chen, Yi-Xin Zeng, Mu-Sheng Zeng, Wei-Hua Jia

Exploring multilocus associations of inflammation genes and colorectal cancer risk using hapConstructor

Karen Curtin, Roger K Wolff, Jennifer S Herrick, Ryan Abo, Martha L Slattery

The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus

Ali R Keramati, Anita Sadeghpour, Maryam M Farahani, Gurangad Chandok, Arya Mani

Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region

Raquel M Fernández, Rocío Nú？ez-Torres, Antonio González-Meneses, Guillermo Anti？olo, Salud Borrego

Toll-like receptor gene polymorphisms are associated with susceptibility to graves' ophthalmopathy in Taiwan males

Wen-Ling Liao, Rong-Hsing Chen, Hui-Ju Lin, Yu-Huei Liu, Wen-Chi Chen, Yuhsin Tsai, Lei Wan, Fuu-Jen Tsai

Lack of association of the CIITA -168A→G promoter SNP with myasthenia gravis and its role in autoimmunity

Ryan Ramanujam, Yaofeng Zhao, Ritva Pirskanen, Lennart Hammarstr？m

Glucocorticoid receptor gene polymorphisms do not affect growth in fetal and early postnatal life. The Generation R Study

Miranda JJ Geelhoed, Eric AP Steegers, Jan W Koper, Elisabeth FC van Rossum, Henriette A Moll, Hein Raat, Henning Tiemeier, Albert Hofman, Vincent WV Jaddoe

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