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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Survival bias and drug interaction can attenuate cross-sectional case-control comparisons of genes with health outcomes. An example of the kinesin-like protein 6 (KIF6) Trp719Arg polymorphism and coronary heart disease

Paul Williams, Lakshmana Pendyala, Robert Superko

No association of TNFRSF1B variants with type 2 diabetes in Indians of Indo-European origin

Rubina Tabassum, Anubha Mahajan, Ganesh Chauhan, Om Dwivedi, Himanshu Dubey, Vasudha Sharma, Bratashree Kundu, Saurabh Ghosh, Nikhil Tandon, Dwaipayan Bharadwaj

Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits

Rita PS Middelberg, Manuel AR Ferreira, Anjali K Henders, Andrew C Heath, Pamela AF Madden, Grant W Montgomery, Nicholas G Martin, John B Whitfield

An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition

Danièle Muller, Etienne Rouleau, Inès Schultz, Sandrine Caputo, Cédrick Lefol, Ivan Bièche, Olivier Caron, Catherine Noguès, Jean Limacher, Liliane Demange, Rosette Lidereau, Jean Fricker, Joseph Abecassis

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis

Mustafa A Salih, Khaled K Abu-Amero, Saleh Alrasheed, Ibrahim A Alorainy, Lu Liu, John A McGrath, Lionel Van Maldergem, Yasser H Al-Faky, Adel H AlSuhaibani, Darren T Oystreck, Thomas M Bosley

Comprehensive genetic assessment of a functional TLR9 promoter polymorphism: no replicable association with asthma or asthma-related phenotypes

Nancy E Lange, Xiaobo Zhou, Jessica Lasky-Su, Blanca E Himes, Ross Lazarus, Manuel Soto-Quirós, Lydiana Avila, Juan C Celedón, Catherine M Hawrylowicz, Benjamin A Raby, Augusto A Litonjua

Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome

Saima Riazuddin, Zubair M Ahmed, Rashmi S Hegde, Shaheen N Khan, Idrees Nasir, Uzma Shaukat, Sheikh Riazuddin, John A Butman, Andrew J Griffith, Thomas B Friedman, Byung Choi

Genetic variation of Glucose Transporter-1 (GLUT1) and albuminuria in 10,278 European Americans and African Americans: a case-control study in the Atherosclerosis Risk in Communities (ARIC) Study

Charles C Hsu, Wenhong L Kao, Michael W Steffes, Tejal Gambir, Frederick L Brancati, Charles W Heilig, Alan R Shuldiner, Eric A Boerwinkle, Josef Coresh

Testing the thrifty gene hypothesis: the Gly482Ser variant in PPARGC1A is associated with BMI in Tongans

Sean Myles, Rod A Lea, Jun Ohashi, Geoff K Chambers, Joerg G Weiss, Emilie Hardouin, Johannes Engelken, Donia P Macartney-Coxson, David A Eccles, Izumi Naka, Ryosuke Kimura, Tsukasa Inaoka, Yasuhiro Matsumura, Mark Stoneking

Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations

Xin-Hua Li, Yi Lu, Yun Ling, Qing-Chun Fu, Jie Xu, Guo-Qing Zang, Feng Zhou, Yu De-Min, Yue Han, Dong-Hua Zhang, Qi-Ming Gong, Zhi-Meng Lu, Xiao-Fei Kong, Jian-She Wang, Xin-Xin Zhang

Polymorphisms of CD16A and CD32 Fcγ receptors and circulating immune complexes in Ménière's disease: a case-control study

José A Lopez-Escamez, Pablo Saenz-Lopez, Irene Gazquez, Antonia Moreno, Carlos Gonzalez-Oller, Andrés Soto-Varela, Sofía Santos, Ismael Aran, Herminio Perez-Garrigues, águeda Iba？ez, Miguel A Lopez-Nevot

Polymorphisms in genes controlling inflammation and tissue repair in rheumatoid arthritis: a case control study

Marieke Emonts, Mieke JMW Hazes, Jeanine J Houwing-Duistermaat, Christa E van der Gaast-de Jongh, Lisette de Vogel, Huub KH Han, Jacques MGW Wouters, Jon D Laman, Radboud JEM Dolhain

Variation in Uteroglobin-Related Protein 1 (UGRP1) gene is associated with Allergic Rhinitis in Singapore Chinese

Anand Andiappan, Wei Yeo, Pallavi Parate, Ramani Anantharaman, Bani Suri, De Yun Wang, Fook Chew

Serum uric acid distribution according to SLC22A12 W258X genotype in a cross-sectional study of a general Japanese population

Nobuyuki Hamajima, Mariko Naito, Asahi Hishida, Rieko Okada, Yatami Asai, Kenji Wakai

Association of CD14 -260 (-159) C>T and asthma: a systematic review and meta-analysis

Linlu Zhao, Michael B Bracken

Multiple primary malignancies and subtle mucocutaneous lesions associated with a novel PTEN gene mutation in a patient with Cowden syndrome: Case report

Peter Vasov？ák, Mária ？enke？íková, Jana Hatlová, Anna K？epelová

Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III

Galina Zheleznyakova, Anton V Kiselev, Viktor G Vakharlovsky, Mathias Rask-Andersen, Rohit Chavan, Anna A Egorova, Helgi B Schi？th, Vladislav S Baranov

Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci

Iina Niittym？ki, Sari Tuupanen, Yilong Li, Heikki J？rvinen, Jukka-Pekka Mecklin, Ian PM Tomlinson, Richard S Houlston, Auli Karhu, Lauri A Aaltonen

A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis

Esther Sarasola, Jose A Rodríguez, Elisa Garrote, Javier Arístegui, Maria J García-Barcina

Evidence for population variation in TSC1 and TSC2 gene expression

Garilyn M Jentarra, Stephen G Rice, Shannon Olfers, David Saffen, Vinodh Narayanan

Genome Wide Association Study to predict severe asthma exacerbations in children using random forests classifiers

Mousheng Xu, Kelan G Tantisira, Ann Wu, Augusto A Litonjua, Jen-hwa Chu, Blanca E Himes, Amy Damask, Scott T Weiss

Analysis of positional candidate genes in the AAA1 susceptibility locus for abdominal aortic aneurysms on chromosome 19

John H Lillvis, Yoshiki Kyo, Gerard Tromp, Guy M Lenk, Ming Li, Qing Lu, Robert P Igo, Natzi Sakalihasan, Robert E Ferrell, Charles M Schworer, Zoran Gatalica, Susan Land, Helena Kuivaniemi

Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation

Anette Bygum, Christina R Fagerberg, Ole J Clemmensen, Britta Fiebig, Christian Hafner

Evaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study)

Jens K Hertel, Stefan Johansson, Helge R？der, Carl GP Platou, Kristian Midthjell, Kristian Hveem, Anders Molven, P？l R Nj？lstad

Identifying subtypes of patients with neovascular age-related macular degeneration by genotypic and cardiovascular risk characteristics

Michael Feehan, John Hartman, Richard Durante, Margaux A Morrison, Joan W Miller, Ivana K Kim, Margaret M DeAngelis

Association of ADIPOQ gene variants with body weight, type 2 diabetes and serum adiponectin concentrations: the Finnish Diabetes Prevention Study

Niina Siitonen, Leena Pulkkinen, Jaana Lindstr？m, Marjukka Kolehmainen, Johan G Eriksson, Mika Venoj？rvi, Pirjo Ilanne-Parikka, Sirkka Kein？nen-Kiukaanniemi, Jaakko Tuomilehto, Matti Uusitupa

The mitochondrial DNA 4,977-bp deletion and its implication in copy number alteration in colorectal cancer

Tao Chen, Jing He, Lijun Shen, Hezhi Fang, Hezhongrong Nie, Tao Jin, Xiaosong Wei, Yijuan Xin, Yulin Jiang, Hongzhi Li, Guorong Chen, Jianxin Lu, Yidong Bai

Association of PGC-1alpha polymorphisms with age of onset and risk of Parkinson's disease

Joanne Clark, Sonika Reddy, Kangni Zheng, Rebecca A Betensky, David K Simon

Analysis of MEFV exon methylation and expression patterns in familial Mediterranean fever

Asli K Kirectepe, Ozgur Kasapcopur, Nil Arisoy, Gokce Celikyapi Erdem, Gulen Hatemi, Huri Ozdogan, Eda Tahir Turanli

Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia

Alyaa Al-Khateeb, Mohd K Zahri, Mohd S Mohamed, Teguh H Sasongko, Suhairi Ibrahim, Zurkurnai Yusof, Bin A Zilfalil

A follow-up study for left ventricular mass on chromosome 12p11 identifies potential candidate genes

David Della-Morte, Ashley Beecham, Tatjana Rundek, Liyong Wang, Mark S McClendon, Susan Slifer, Susan H Blanton, Marco R Di Tullio, Ralph L Sacco

Pharmacogenetic analysis of the effects of polymorphisms in APOE, IDE and IL1B on a ketone body based therapeutic on cognition in mild to moderate Alzheimer's disease; a randomized, double-blind, placebo-controlled study

Samuel T Henderson, Judes Poirier

Melatonin receptor 1 B polymorphisms associated with the risk of gestational diabetes mellitus

Jason Y Kim, Hyun Cheong, Byung-Lae Park, Sei Baik, Sunmin Park, Si Lee, Min-Hyoung Kim, Jin Chung, June Choi, Moon-Young Kim, Jae-Hyug Yang, Dong-Hee Cho, Hyoung Shin, Sung-Hoon Kim

A polymorphism in the regulatory region of PRNP is associated with increased risk of sporadic Creutzfeldt-Jakob disease

Pascual Sanchez-Juan, Matthew T Bishop, Esther A Croes, Richard SG Knight, Robert G Will, Cornelia M van Duijn, Jean C Manson

A common polymorphism in NR1H2 (LXRbeta) is associated with preeclampsia

Kevin Mouzat, Eric Mercier, Anne Polge, Alexandre Evrard, Silvère Baron, Jean-Pierre Balducchi, Jean-Paul Brouillet, Serge Lumbroso, Jean-Christophe Gris

ANGPTL4 variants E40K and T266M are associated with lower fasting triglyceride levels in Non-Hispanic White Americans from the Look AHEAD Clinical Trial

Melissa C Smart-Halajko, Alyson Kelley-Hedgepeth, Maria Montefusco, Jackie A Cooper, Alan Kopin, Jeanne M McCaffery, Ashok Balasubramanyam, Henry J Pownall, David M Nathan, Inga Peter, Philippa J Talmud, Gordon S Huggins, the Look AHEAD Study

Assessment of heterogeneity between European Populations: a Baltic and Danish replication case-control study of SNPs from a recent European ulcerative colitis genome wide association study

Vibeke Andersen, Anja Ernst, Jurgita Sventoraityte, Limas Kupcinskas, Bent A Jacobsen, Henrik B Krarup, Ulla Vogel, Laimas Jonaitis, Goda Denapiene, Gediminas Kiudelis, Tobias Balschun, Andre Franke

Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 Multiple Osteochondromas families

Ivy Jennes, Danielle de Jong, Kirsten Mees, Pancras CW Hogendoorn, Karoly Szuhai, Wim Wuyts

The insertion/deletion (I/D) polymorphism in the Angiotensin-converting enzyme gene and cancer risk: a meta-analysis

Yonggang Zhang, Jie He, Yao Deng, Jie Zhang, Xiaobo Li, Zhangpeng Xiang, Honglang Huang, Can Tian, Jin Huang, Hong Fan

Effects of genetic variations in the Adiponectin pathway genes on the risk of colorectal cancer in the Chinese population

Bangshun He, Yuqin Pan, Ying Zhang, Qian Bao, Liping Chen, Zhenlin Nie, Ling Gu, Yeqiong Xu, Shukui Wang

Effects of endotoxin exposure on childhood asthma risk are modified by a genetic polymorphism in ACAA1

Joanne E Sordillo, Sunita Sharma, Audrey Poon, Jessica Lasky-Su, Kathleen Belanger, Donald K Milton, Michael B Bracken, Elizabeth W Triche, Brian P Leaderer, Diane R Gold, Augusto A Litonjua

Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype

Tracy L McGregor, Christina A Gurnett, Matthew B Dobbs, Carol A Wise, Jose A Morcuende, Thomas M Morgan, Ramkumar Menon, Louis J Muglia

Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus

Yue-Juan Xu, Jian Wang, Rang Xu, Peng-Jun Zhao, Xi-Ke Wang, Heng-Juan Sun, Li-Ming Bao, Jie Shen, Qi-Hua Fu, Fen Li, Kun Sun

Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels

Guillemette Antoni, Tiphaine Oudot-Mellakh, Apostolos Dimitromanolakis, Marine Germain, William Cohen, Philip Wells, Mark Lathrop, France Gagnon, Pierre-Emmanuel Morange, David-Alexandre Tregouet

Association of common variants in JAK2 gene with reduced risk of metabolic syndrome and related disorders

Alberto Penas-Steinhardt, Mariana L Tellechea1, Leonardo Gomez-Rosso, Fernando Brites, Gustavo D Frechtel, Edgardo Poskus

An interaction between Nrf2 polymorphisms and smoking status affects annual decline in FEV1: a longitudinal retrospective cohort study

Hironori Masuko, Tohru Sakamoto, Yoshiko Kaneko, Hiroaki Iijima, Takashi Naito, Emiko Noguchi, Tomomitsu Hirota, Mayumi Tamari, Nobuyuki Hizawa

Lack of association between gene polymorphisms of Angiotensin converting enzyme, Nod-like receptor 1, Toll-like receptor 4, FAS/FASL and the presence of Helicobacter pylori-induced premalignant gastric lesions and gastric cancer in Caucasians

Juozas Kupcinskas, Thomas Wex, Jan Bornschein, Michael Selgrad, Marcis Leja, Elona Juozaityte, Gediminas Kiudelis, Laimas Jonaitis, Peter Malfertheiner

Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events

Rocio Nú？ez-Torres, Raquel M Fernández, Manuel Acosta, Maria del Valle Enguix-Riego, Martina Marbá, Juan Carlos de Agustín, Luis Casta？o, Guillermo Anti？olo, Salud Borrego

Mismatched single stranded antisense oligonucleotides can induce efficient dystrophin splice switching

Clayton T Fragall, Abbie M Adams, Russell D Johnsen, Ryszard Kole, Sue Fletcher, Steve D Wilton

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