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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Potential contribution of SIM2 and ETS2 functional polymorphisms in Down syndrome associated malignancies

Chatterjee Arpita,Dutta Samikshan,Mukherjee Sanjit,Mukherjee Nupur

Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients

Romero-Quintana José G,Frías-Castro Luis O,Arámbula-Meraz Eliakym,Aguilar-Medina Maribel

Meta-analysis of associations between TCF7L2 polymorphisms and risk of type 2 diabetes mellitus in the Chinese population

Wang Jinjin,Hu Fulan,Feng Tianping,Zhao Jingzhi

Association between paraoxonase gene and stroke in the Han Chinese population

Zhang Guojun,Li Wenjin,Li Zhiqiang,Lv Hong

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3

Jamsheer Aleksander,Sowińska Anna,Simon Dorota,Jamsheer-Bratkowska Ma？gorzata

Reduced genetic influence on childhood obesity in small for gestational age children

Han Dug Yeo,Murphy Rinki,Morgan Angharad R,Lam Wen Jiun

Assessment of the 9p21.3 locus in severity of coronary artery disease in the presence and absence of type 2 diabetes

Rivera Natalia V,Carreras-Torres Robert,Roncarati Roberta,Viviani-Anselmi Chiara

The silence of MUC2 mRNA induced by promoter hypermethylation associated with HBV in Hepatocellular Carcinoma

Ling Yang,Zhu Jing,Gao Lu,Liu Yongping

Mitochondrial DNA haplogroups confer differences in risk for age-related macular degeneration: a case control study

Kenney M Cristina,Hertzog Dieter,Chak Garrick,Atilano Shari R

Study design of DIACORE (DIAbetes COhoRtE) – a cohort study of patients with diabetes mellitus type 2

D？rh？fer Lena,Lammert Alexander,Krane Vera,Gorski Mathias

Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma

Losonczy Gergely,Fazakas Ferenc,Pfliegler Gy？rgy,Komáromi István

Effects of smoking on the genetic risk of obesity: the population architecture using genomics and epidemiology study

Fesinmeyer Megan D,North Kari E,Lim Unhee,B？？ková Petra

Microsomal triglyceride transfer protein -164 T > C gene polymorphism and risk of cardiovascular disease: results from the EPIC-Potsdam case-cohort study

di Giuseppe Romina,Pechlivanis Sonali,Fisher Eva,Arregui Maria

Risk loci for coronary artery calcification replicated at 9p21 and 6q24 in the Heinz Nixdorf Recall Study

Pechlivanis Sonali,Mühleisen Thomas W,M？hlenkamp Stefan,Schadendorf Dirk

Analysis of the contribution of FTO, NPC1, ENPP1, NEGR1, GNPDA2 and MC4R genes to obesity in Mexican children

Mejía-Benítez Aurora,Klünder-Klünder Miguel,Yengo Loic,Meyre David

Contribution of the PALB2 c.2323C>T [p.Q775X] Founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent

Tischkowitz Marc,Sabbaghian Nelly,Hamel Nancy,Pouchet Carly

Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests

Wang Li-Yun,Chen Nien-I,Chen Pin-Wen,Chiang Shu-Chuan

Lack of association between a functional variant of the BRCA-1 related associated protein (BRAP) gene and ischemic stroke

Liao Yi-Chu,Lin Hsiu-Fen,Guo Yuh-Cherng,Chen Chung-Hung

Family-based associations in measures of psychological distress and quality of life in a cardiac screening clinic for inheritable cardiac diseases: a cross-sectional study

McGorrian Catherine,McShane Charlene,McQuade Colin,Keelan Ted

Association between polymorphisms in the adiponectin gene and cardiovascular disease: a meta-analysis

Huan Zhang, Xingbo Mo, YongChen Hao, Dongfeng Gu

TGFB1 genetic polymorphisms and coronary heart disease risk: a meta-analysis

Yingchang Lu, Jolanda MA Boer, Roza M Barsova, Olga Favorova, Anuj Goel, Inke K？nig, Michael Müller, Edith JM Feskens

Genetic variations in APPL2 are associated with overweight and obesity in a Chinese population with normal glucose tolerance

Shan Jiang, Qichen Fang, Weihui Yu, Rong Zhang, Cheng Hu, Kun Dong, Yuqian Bao, Chen Wang, Kunsan Xiang, Weiping Jia

Multi-locus stepwise regression: a haplotype-based algorithm for finding genetic associations applied to atopic dermatitis

Sven Knüppel, Jorge Esparza-Gordillo, Ingo Marenholz, Hermann-Georg Holzhütter, Anja Bauerfeind, Andreas Ruether, Stephan Weidinger, Young-Ae Lee, Klaus Rohde

MUC2 polymorphisms are associated with endometriosis development and infertility: a case-control study

Cherry Chang, Yi Chen, Wu-Chou Lin, Chih-Mei Chen, Chih-Ping Chen, Shan-Chih Lee, Jim Sheu, Fuu-Jen Tsai

IGF2/H19 hypomethylation in a patient with very low birthweight, preocious pubarche and insulin resistance

Rinki Murphy, Lourdes Ibá？ez, Andrew Hattersley, J？rg Tost

A mutation at IVS1 + 5 of the von Hippel-Lindau gene resulting in intron retention in transcripts is not pathogenic in a patient with a tongue cancer?: case report

Takeshi Asakawa, Mariko Esumi, Sohei Endo, Akinori Kida, Minoru Ikeda

Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease

Daniel S Lieber, Scott B Vafai, Laura C Horton, Nancy G Slate, Shangtao Liu, Mark L Borowsky, Sarah E Calvo, Jeremy D Schmahmann, Vamsi K Mootha

Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation

Morten S Olesen, Bo H Bentzen, Jonas B Nielsen, Annette B Steffensen, Jens-Peter David, Javad Jabbari, Henrik K Jensen, Stig Hauns？, Jesper H Svendsen, Nicole Schmitt

No Association of nineteenCOX-2 gene variants to preclinical markers of atherosclerosis The Cardiovascular Risk in Young Finns Study

Kati L？hteel？, Tarja Kunnas, Leo-Pekka Lyytik？inen, Nina Mononen, Leena Taittonen, Tomi Laitinen, Johannes Kettunen, Markus Juonala, Nina Hutri-K？h？nen, Mika K？h？nen, Jorma S Viikari, Olli T Raitakari, Terho Lehtim？ki, Seppo T Nikkari

Beta catenin and cytokine pathway dysregulation in patients with manifestations of the "PTEN hamartoma tumor syndrome"

Martina Galatola, Lorella Paparo, Francesca Duraturo, Mimmo Turano, Giovanni Rossi, Paola Izzo, Marina De Rosa

Race-ethnic differences in the association of genetic loci with HbA1c levels and mortality in U.S. adults: the third National Health and Nutrition Examination Survey (NHANES III)

Jonna L Grimsby, Bianca C Porneala, Jason L Vassy, Quanhe Yang, José C Florez, Josée Dupuis, Tiebin Liu, Ajay Yesupriya, Man-Huei Chang, Renee M Ned, Nicole F Dowling, Muin J Khoury, James B Meigs, The MAGIC Investigators

Systems analysis of inflammatory bowel disease based on comprehensive gene information

Satoru Suzuki, Takako Takai-Igarashi, Yutaka Fukuoka, Dennis P Wall, Hiroshi Tanaka, Peter J Tonellato

The combined effect of the T2DM susceptibility genes is an important risk factor for T2DM in non-obese Japanese: a population based case-control study

Kimiko Yamakawa-Kobayashi, Maki Natsume, Shingo Aoki, Sachi Nakano, Tomoko Inamori, Nobuhiko Kasezawa, Toshinao Goda

Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report

Aleksander Jamsheer, Anna Sowińska, Leszek Kaczmarek, Anna Latos-Bieleńska

The genetic variants at the HLA-DRB1 gene are associated with primary IgA nephropathy in Han Chinese

Yang Jiyun, Li Guisen, Zhu Li, Shi Yi, Lv Jicheng, Lu Fang, Liu Xiaoqi, Ma Shi, Jing Cheng, Lin Ying, Wang Haiyan, Wang Li, Zhang Hong, Yang Zhenglin

Genetic analyses of smoking initiation, persistence, quantity, and age-at-onset of regular cigarette use in Brazilian families: the Baependi Heart Study

Andréa RVR Horimoto, Camila M Oliveira, Suely R Giolo, Júlia P Soler, Mariza de Andrade, José E Krieger, Alexandre C Pereira

Non-replication study of a genome-wide association study for hypertension and blood pressure in African Americans

Srividya Kidambi, Soumitra Ghosh, Jane M Kotchen, Clarence E Grim, Shanthi Krishnaswami, Mary L Kaldunski, Allen W Cowley, Shailendra B Patel, Theodore A Kotchen

Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study

Lisa F Potts, Alex C Cambon, Owen A Ross, Rosa Rademakers, Dennis W Dickson, Ryan J Uitti, Zbigniew K Wszolek, Shesh N Rai, Matthew J Farrer, David W Hein, Irene Litvan

The Renalase Asp37Glu polymorphism is not associated with hypertension and cardiovascular events in an urban-based prospective cohort: the Malm？ Diet and cancer study

Cristiano Fava, Martina Montagnana, Elisa Danese, Marketa Sj？gren, Peter Almgren, Gunnar Engstr？m, Bo Hedblad, Gian Cesare Guidi, Pietro Minuz, Olle Melander

Cheek swabs, SNP chips, and CNVs: Assessing the quality of copy number variant calls generated with subject-collected mail-in buccal brush DNA samples on a high-density genotyping microarray

Stephen W Erickson, Stewart L MacLeod, Charlotte A Hobbs

An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation

John F Staropoli, Winnie Xin, Rosemary Barone, Susan L Cotman, Katherine B Sims

Circulating leukocyte telomere length is highly heritable among families of Arab descent

Omar Al-Attas, Nasser Al-Daghri, Majed Alokail, Khalid Alkharfy, Assim Alfadda, Philip McTernan, Greg Gibson, Shaun Sabico, George Chrousos

Computational identification and experimental validation of microRNAs binding to the Alzheimer-related gene ADAM10

Regina Augustin, Kristina Endres, Sven Reinhardt, Peer-Hendrik Kuhn, Stefan F Lichtenthaler, Jens Hansen, Wolfgang Wurst, Dietrich Trümbach

Genotyping of a tri-allelic polymorphism by a novel melting curve assay in MTHFD1L: an association study of nonsyndromic Cleft in Ireland

Stefano Minguzzi, Anne M Molloy, Kirke Peadar, James Mills, John M Scott, James Troendle, Faith Pangilinan, Lawrence Brody, Anne Parle-McDermott

Possible role of EMID2 on nasal polyps pathogenesis in Korean asthma patients

Charisse Flerida Pasaje, Joon Seol Bae, Byung-Lae Park, Hyun Sub Cheong, Jeong-Hyun Kim, An-Soo Jang, Soo-Taek Uh, Choon-Sik Park, Hyoung Doo Shin

A case-only study of gene-environment interaction between genetic susceptibility variants in NOD2 and cigarette smoking in Crohn's disease aetiology

Katherine L Helbig, Michael Nothnagel, Jochen Hampe, Tobias Balschun, Susanna Nikolaus, Stefan Schreiber, Andre Franke, Ute N？thlings

Reliable and rapid characterization of functional FCN2 gene variants reveals diverse geographical patterns

Olusola Ojurongbe, Eman Abou Ouf, Hoang Van Tong, Nguyen L Toan, Le H Song, Paola R Luz, Iara JT Messias-Reason, Dennis Nurjadi, Phillip Zanger, Jürgen FJ Kun, Peter G Kremsner, Thirumalaisamy P Velavan

The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro

Elisabetta Tabolacci, Filomena Pirozzi, Baltazar Gomez-Mancilla, Fabrizio Gasparini, Giovanni Neri

Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature

Tom B Davidson, Pedro A Sanchez-Lara, Linda M Randolph, Mark D Krieger, Shi-Qi Wu, Ashok Panigrahy, Hiroyuki Shimada, Anat Erdreich-Epstein

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