Functional genomics of the 9p21.3 locus for atherosclerosis: clarity or confusion?
Current cardiology reports | 2014-07-01 | PMID 24893939
Chen Hsiao-Huei, Almontashiri Naif A M, Antoine Darlène and 1 more
Genes: CAD
Publication catalog
Biomedical publications with connected research
Browse 1,060,000 source-attributed publications. Article pages show available bibliographic context, indexed concepts and SPECTER2 related publications where supported by the source and graph. Missing metadata is not invented, and source retraction notices remain visible.
Semantic proximity supports literature exploration. It does not establish scientific or clinical evidence.
Publications
Page 6035 of 10600
Exome sequencing: new insights into lipoprotein disorders.
Current cardiology reports | 2014-07-01 | PMID 24893940
Farhan Sali M K, Hegele Robert A
Enhancement of Rituximab-induced cell death by the physical association of CD20 with CD40 molecules on the cell surface.
International immunology | 2014-08-01 | PMID 24894009
Al-Zoobi Loubna, Salti Suzanne, Colavecchio Anna and 5 more
Genes: TNF
The RHD(1227G>A) DEL-associated allele is the most prevalent DEL allele in Australian D- blood donors with C+ and/or E+ phenotypes.
Transfusion | 2014-11-01 | PMID 24894016
Scott Stacy A, Nagl Lisa, Tilley Louise and 4 more
Genes: RHD
Epithelioid glioblastoma arising from pleomorphic xanthoastrocytoma with the BRAF V600E mutation.
Brain tumor pathology | 2014-07-01 | PMID 24894018
Tanaka Shingo, Nakada Mitsutoshi, Nobusawa Sumihito and 4 more
Genes: BRAF
Adiponectin gene (ADIPOQ) polymorphisms correlate with the progression of nephropathy in Taiwanese male patients with type 2 diabetes.
Diabetes research and clinical practice | 2014-08-01 | PMID 24894086
Chung Hsin-Fang, Long Kurt Z, Hsu Chih-Cheng and 7 more
Genes: ADIPOQ, ACR
Immune-escape markers in relation to clinical outcome of advanced melanoma patients following immunotherapy.
Cancer immunology research | 2014-06-01 | PMID 24894091
Tjin Esther P M, Krebbers Gabrielle, Meijlink Kimberley J and 9 more
Genes: TNF
Impact of the epidermal growth factor receptor mutation status on the post-recurrence survival of patients with surgically resected non-small-cell lung cancer.
European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery | 2015-03-01 | PMID 24894095
Takenaka Tomoyoshi, Takenoyama Mitsuhiro, Yamaguchi Masafumi and 12 more
Genes: EGFR
Serum C-reactive protein level but not its gene polymorphism is associated with Takayasu arteritis.
Clinical rheumatology | 2016-03-01 | PMID 24894103
Cheng Yanmei, Dang Aimin, Lv Naqiang and 3 more
Genes: CRP
Field vaccinated chickens with low antibody titres show equally insufficient protection against matching and non-matching genotypes of virulent Newcastle disease virus.
Veterinary microbiology | 2014-08-06 | PMID 24894134
Dortmans J C F M, Venema-Kemper S, Peeters B P H and 1 more
The significance of GBA for Parkinson's disease.
Journal of inherited metabolic disease | 2014-07-01 | PMID 24894157
Brockmann Kathrin, Berg Daniela
A genetic association study detects haplotypes associated with obstructive heart defects.
Human genetics | 2014-09-01 | PMID 24894164
Li Ming, Cleves Mario A, Mallick Himel and 5 more
Genes: CBS, MGMT, MTHFS
Evaluation of Mycobacterium tuberculosis cross-resistance to isoniazid, rifampicin and levofloxacin with their respective structural analogs.
The Journal of antibiotics | 2014-11-01 | PMID 24894185
Imperiale Belén Rocío, Di Giulio Ángela Beatríz, Adrián Cataldi Angel and 1 more
A functional variant in NKX3.1 associated with prostate cancer risk in the Selenium and Vitamin E Cancer Prevention Trial (SELECT).
Cancer prevention research (Philadelphia, Pa.) | 2014-09-01 | PMID 24894197
Martinez Erin E, Darke Amy K, Tangen Catherine M and 4 more
Genetic testing and familial implications in breast-ovarian cancer families.
Maturitas | 2014-08-01 | PMID 24894332
Oosterwijk Jan C, de Vries Jakob, Mourits Marian J and 1 more
Genes: BRCA1, BRCA2
A multi-institutional study on the association between BRCA1/BRCA2 mutational status and triple-negative breast cancer in familial breast cancer patients.
Breast cancer research and treatment | 2014-07-01 | PMID 24894343
Seong Moon-Woo, Kim Kyu Hyung, Chung Il Yong and 11 more
Genes: BRCA1, BRCA2
A framework for application of metabolic modeling in yeast to predict the effects of nsSNV in human orthologs.
Biology direct | 2014-06-03 | PMID 24894379
Dingerdissen Hayley, Weaver Daniel S, Karp Peter D and 3 more
Microscopic inner retinal hyper-reflective phenotypes in retinal and neurologic disease.
Investigative ophthalmology & visual science | 2014-06-03 | PMID 24894394
Scoles Drew, Higgins Brian P, Cooper Robert F and 7 more
Remarkable increase in fluoroquinolone-resistant Mycoplasma genitalium in Japan.
The Journal of antimicrobial chemotherapy | 2014-09-01 | PMID 24894419
Kikuchi Mina, Ito Shin, Yasuda Mitsuru and 5 more
A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance.
BMC neurology | 2014-06-03 | PMID 24894446
Engeholm Maik, Sekler Julia, Schöndorf David C and 5 more
Colon cancer-derived oncogenic EGFR G724S mutant identified by whole genome sequence analysis is dependent on asymmetric dimerization and sensitive to cetuximab.
Molecular cancer | 2014-06-04 | PMID 24894453
Cho Jeonghee, Bass Adam J, Lawrence Michael S and 23 more
Genes: EGFR, KRAS
RAREMETAL: fast and powerful meta-analysis for rare variants.
Bioinformatics (Oxford, England) | 2014-10-01 | PMID 24894501
Feng Shuang, Liu Dajiang, Zhan Xiaowei and 2 more
SMaSH: a benchmarking toolkit for human genome variant calling.
Bioinformatics (Oxford, England) | 2014-10-01 | PMID 24894505
Talwalkar Ameet, Liptrap Jesse, Newcomb Julie and 7 more
Phenotyping of CYP450 in human liver microsomes using the cocktail approach.
Analytical and bioanalytical chemistry | 2014-08-01 | PMID 24894520
Spaggiari Dany, Geiser Laurent, Daali Youssef and 1 more
A pilot study of the genetic variation of phosphorus utilization in young Japanese quail (Coturnix japonica).
Poultry science | 2014-08-01 | PMID 24894527
Beck P, Rodehutscord M, Bennewitz J and 1 more
Conserved recurrent gene mutations correlate with pathway deregulation and clinical outcomes of lung adenocarcinoma in never-smokers.
BMC medical genomics | 2014-06-04 | PMID 24894543
Sun Zhifu, Wang Liang, Eckloff Bruce W and 8 more
Genes: ATXN2, DHX9, EGFR, KRAS, MYOF, PTPN13, SPTAN1
Clinical characteristics of relapses and re-infections in Clostridium difficile infection.
Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases | 2014-11-01 | PMID 24894547
Kim J, Seo M-R, Kang J O and 3 more
Paternal RNA contributions in the Caenorhabditis elegans zygote.
The EMBO journal | 2014-08-18 | PMID 24894551
Stoeckius Marlon, Grün Dominic, Rajewsky Nikolaus
Correction of lysosomal dysfunction as a therapeutic strategy for neurodegenerative diseases.
Bioorganic & medicinal chemistry letters | 2014-07-15 | PMID 24894562
Boyd Robert E, Valenzano Kenneth J
Vertebrate paralogous CRMPs in nervous system: evolutionary, structural, and functional interplay.
Journal of molecular neuroscience : MN | 2015-02-01 | PMID 24894590
Tang Yanyan, Ye Ziming, Wei Yunfei and 3 more
Comparison of the QIAGEN artus HCV QS-RGQ test with the Roche COBAS Ampliprep/COBAS TaqMan HCV test v2.0 for the quantification of HCV-RNA in plasma samples.
Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology | 2014-08-01 | PMID 24894603
Schønning Kristian
Papillon-Lefèvre syndrome with homozygous nonsense mutation of cathepsin C gene presenting with late-onset periodontitis.
Pediatric dermatology | 2000-01-01 | PMID 24894642
Ragunatha Shivanna, Ramesh Mudalagirigowda, Anupama Panagar and 2 more
Genes: CTSC
MTHFR gene polymorphism and risk of myeloid leukemia: a meta-analysis.
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine | 2014-09-01 | PMID 24894669
Dong Song, Liu Yueling, Chen Jieping
Genes: MTHFR
Polymorphism in PHD1 gene and risk of non-small cell lung cancer in a Chinese population.
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine | 2014-09-01 | PMID 24894671
Che Jianhua, Jiang Dong, Zheng Yabiao and 9 more
CD24 single nucleotide polymorphisms and cancer risk.
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine | 2014-09-01 | PMID 24894672
Yan Shushan, Xu Donghua, Jiang Tao and 13 more
MiR-186 targets ROCK1 to suppress the growth and metastasis of NSCLC cells.
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine | 2014-09-01 | PMID 24894676
Cui Guanghui, Cui Mingwei, Li Yuhang and 4 more
Genes: ROCK1
Genetic diversity and population structure among pea (Pisum sativum L.) cultivars as revealed by simple sequence repeat and novel genic markers.
Molecular biotechnology | 2014-10-01 | PMID 24894738
Jain Shalu, Kumar Ajay, Mamidi Sujan and 1 more
Analysis of the genetics of boar taint reveals both single SNPs and regional effects.
BMC genomics | 2014-06-03 | PMID 24894739
Rowe Suzanne J, Karacaören Burak, de Koning Dirk-Jan and 5 more
Burden of asthma among children in a developing megacity: childhood asthma study, Pakistan.
The Journal of asthma : official journal of the Association for the Care of Asthma | 2014-11-01 | PMID 24894743
Khan Adeel Ahmed, Tanzil Sana, Jamali Tanzil and 6 more
Distinct diversity of the czcA gene in two sedimentary horizons from a contaminated estuarine core.
Environmental science and pollution research international | 2014-09-01 | PMID 24894751
Kaci Assia, Petit Fabienne, Lesueur Patrick and 3 more
Association of both Langerhans cell histiocytosis and Erdheim-Chester disease linked to the BRAFV600E mutation.
Blood | 2014-08-14 | PMID 24894769
Hervier Baptiste, Haroche Julien, Arnaud Laurent and 22 more
Genes: ECD, BRAF
Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds.
Annals of Saudi medicine | 2000-01-01 | PMID 24894778
Faiyaz-Ul-Haque Muhammad, Al-Sayed Moeenaldeen D, Faqeih Eissa and 10 more
A novel MPV17 gene mutation in a Saudi infant causing fatal progressive liver failure.
Annals of Saudi medicine | 2000-01-01 | PMID 24894789
Sarkhy Ahmed Al, Al-Sunaid Areej, Abdullah Ahmad and 2 more
Genes: MPV17
HLA class II alleles may influence susceptibility to adult dermatomyositis and polymyositis in a Han Chinese population.
BMC dermatology | 2014-06-04 | PMID 24894810
Gao Xiang, Han Lei, Yuan Lan and 5 more
Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.
Breast cancer research : BCR | 2014-06-03 | PMID 24894818
Damiola Francesca, Pertesi Maroulio, Oliver Javier and 17 more
Genes: ATM, BRCA1, BRCA2, CHEK2, RAD50, NBN
The impact of exposure-biased sampling designs on detection of gene-environment interactions in case-control studies with potential exposure misclassification.
European journal of epidemiology | 2015-05-01 | PMID 24894824
Stenzel Stephanie L, Ahn Jaeil, Boonstra Philip S and 2 more
Identification of primary and secondary metabolites with phosphorus status-dependent abundance in Arabidopsis, and of the transcription factor PHR1 as a major regulator of metabolic changes during phosphorus limitation.
Plant, cell & environment | 2015-01-01 | PMID 24894834
Pant Bikram-Datt, Pant Pooja, Erban Alexander and 3 more
Nuclear adenomatous polyposis coli suppresses colitis-associated tumorigenesis in mice.
Carcinogenesis | 2014-08-01 | PMID 24894865
Zeineldin Maged, Miller Matthew A, Sullivan Ruth and 1 more
Genes: APC, MIP
Optimization of the antiviral potency and lipophilicity of halogenated 2,6-diarylpyridinamines as a novel class of HIV-1 NNRTIS.
ChemMedChem | 2014-07-01 | PMID 24895029
Wu Zhi-Yuan, Liu Na, Qin Bingjie and 8 more
Tracking in vivo dynamics of NK cells transferred in patients undergoing stem cell transplantation.
European journal of immunology | 2014-09-01 | PMID 24895051
Killig Monica, Friedrichs Birte, Meisig Johannes and 9 more
Genes: SCT
P1PK, GLOB, and FORS blood group systems and GLOB collection: biochemical and clinical aspects. Do we understand it all yet?
Transfusion medicine reviews | 2014-07-01 | PMID 24895151
Kaczmarek Radoslaw, Buczkowska Anna, Mikołajewicz Katarzyna and 2 more
Functional analysis of the TRIB1 associated locus linked to plasma triglycerides and coronary artery disease.
Journal of the American Heart Association | 2014-06-03 | PMID 24895164
Douvris Adrianna, Soubeyrand Sébastien, Naing Thet and 6 more
Genes: TRIB1
Molecular mechanism of cholangiocarcinoma carcinogenesis.
Journal of hepato-biliary-pancreatic sciences | 2014-10-01 | PMID 24895231
Maemura Kosei, Natsugoe Shoji, Takao Sonshin
Genes: KRAS, TNF
GxE interactions between FOXO genotypes and drinking tea are significantly associated with prevention of cognitive decline in advanced age in China.
The journals of gerontology. Series A, Biological sciences and medical sciences | 2015-04-01 | PMID 24895270
Zeng Yi, Chen Huashuai, Ni Ting and 18 more
Genes: FOXO3
Generation of mice carrying a knockout-first and conditional-ready allele of transforming growth factor beta2 gene.
Genesis (New York, N.Y. : 2000) | 2014-09-01 | PMID 24895296
Ishtiaq Ahmed A S, Bose Gracelyn C, Huang Li and 1 more
Genes: TGFB2
Mycobacterium tuberculosis Lsr2 is a global transcriptional regulator required for adaptation to changing oxygen levels and virulence.
mBio | 2014-06-03 | PMID 24895305
Bartek I L, Woolhiser L K, Baughn A D and 4 more
Genome-wide identification of Acinetobacter baumannii genes necessary for persistence in the lung.
mBio | 2014-06-03 | PMID 24895306
Wang Nengding, Ozer Egon A, Mandel Mark J and 1 more
Specialized transduction designed for precise high-throughput unmarked deletions in Mycobacterium tuberculosis.
mBio | 2014-06-03 | PMID 24895308
Jain Paras, Hsu Tsungda, Arai Masayoshi and 9 more
Human genetic variation and yellow fever mortality during 19th century U.S. epidemics.
mBio | 2014-06-03 | PMID 24895309
Blake Lauren E, Garcia-Blanco Mariano A
Dietary pyridoxine controls efficacy of vitamin B6-auxotrophic tuberculosis vaccine bacillus Calmette-Guérin ΔureC::hly Δpdx1 in mice.
mBio | 2014-06-03 | PMID 24895310
Gengenbacher Martin, Vogelzang Alexis, Schuerer Stefanie and 3 more
Inactivation of the catalytic phosphatase domain of PTPRT/RPTPρ increases social interaction in mice.
Autism research : official journal of the International Society for Autism Research | 2015-02-01 | PMID 24895325
Thirtamara Rajamani Keerthi, O'Neill Brian, Han Dawn D and 3 more
Genes: PTPRT
Fine tuning of the catalytic activity of colicin E7 nuclease domain by systematic N-terminal mutations.
Protein science : a publication of the Protein Society | 2014-08-01 | PMID 24895333
Németh Eszter, Körtvélyesi Tamás, Thulstrup Peter W and 5 more
Distinct clinical characteristics of myeloproliferative neoplasms with calreticulin mutations.
Haematologica | 2014-07-01 | PMID 24895336
Andrikovics Hajnalka, Krahling Tunde, Balassa Katalin and 11 more
Independent genetic control of maize (Zea mays L.) kernel weight determination and its phenotypic plasticity.
Journal of experimental botany | 2014-08-01 | PMID 24895355
Alvarez Prado Santiago, Sadras Víctor O, Borrás Lucas
Genes: KDR
Genetic diversity of hepatitis B virus and hepatitis C virus in human immunodeficiency virus type 1-co-infected patients from Venezuela.
Journal of medical microbiology | 2014-08-01 | PMID 24895404
Jaspe Rossana C, Sulbarán Yoneira F, Loureiro Carmen L and 6 more
Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.
Human molecular genetics | 2014-10-15 | PMID 24895405
Lechner Judith, Porter Louise F, Rice Aine and 10 more
Genes: PRDM5
Peroxidasin is essential for eye development in the mouse.
Human molecular genetics | 2014-11-01 | PMID 24895407
Yan Xiaohe, Sabrautzki Sibylle, Horsch Marion and 5 more
Genes: PXDN
Role of OVCA1/DPH1 in craniofacial abnormalities of Miller-Dieker syndrome.
Human molecular genetics | 2014-11-01 | PMID 24895408
Yu Yi-Ru, You Li-Ru, Yan Yu-Ting and 1 more
Genes: DPH1
Post-GWAS gene-environment interplay in breast cancer: results from the Breast and Prostate Cancer Cohort Consortium and a meta-analysis on 79,000 women.
Human molecular genetics | 2014-10-01 | PMID 24895409
Barrdahl Myrto, Canzian Federico, Joshi Amit D and 39 more
The first report of a Chinese family with McLeod syndrome.
BMJ case reports | 2014-06-03 | PMID 24895410
Man Bik Ling, Yuen Yuet Ping, Fu Yat Pang
SNP markers identify widely distributed clonal lineages of Phytophthora colocasiae in Vietnam, Hawaii and Hainan Island, China.
Mycologia | 2000-01-01 | PMID 24895424
Shrestha Sandesh, Hu Jian, Fryxell Rebecca Trout and 2 more
Transposable elements belonging to the Tc1-Mariner superfamily are heavily mutated in Colletotrichum graminicola.
Mycologia | 2000-01-01 | PMID 24895425
Braga Raíssa Mesquita, Santana Mateus Ferreira, Veras da Costa Rodrigo and 3 more
DiseaseConnect: a comprehensive web server for mechanism-based disease-disease connections.
Nucleic acids research | 2014-07-01 | PMID 24895436
Liu Chun-Chi, Tseng Yu-Ting, Li Wenyuan and 10 more
Alteration of ROS homeostasis and decreased lifespan in S. cerevisiae elicited by deletion of the mitochondrial translocator FLX1.
BioMed research international | 2014-01-01 | PMID 24895546
Giancaspero Teresa Anna, Dipalo Emilia, Miccolis Angelica and 3 more
Double-bottom chaotic map particle swarm optimization based on chi-square test to determine gene-gene interactions.
BioMed research international | 2014-01-01 | PMID 24895547
Yang Cheng-Hong, Lin Yu-Da, Chuang Li-Yeh and 1 more
IDH1(R132H) mutation increases U87 glioma cell sensitivity to radiation therapy in hypoxia.
BioMed research international | 2014-01-01 | PMID 24895549
Wang Xiao-Wei, Labussière Marianne, Valable Samuel and 4 more
Genes: IDH1
Grain sterility in relation to dry mass production and distribution in rice (Oryza sativa L.).
BioMed research international | 2014-01-01 | PMID 24895563
Puteh Adam B, Mondal M Monjurul Alam, Ismail Mohd Razi and 1 more
MYD88 L265P mutations are correlated with 6q deletion in Korean patients with Waldenström macroglobulinemia.
BioMed research international | 2014-01-01 | PMID 24895570
Kim Jung-Ah, Im Kyongok, Park Si Nae and 7 more
Genes: MYD88, IGH
Mutation analysis of JAK2V617F, FLT3-ITD, NPM1, and DNMT3A in Chinese patients with myeloproliferative neoplasms.
BioMed research international | 2014-01-01 | PMID 24895580
Wang Min, He Na, Tian Tian and 3 more
Genes: FLT3, NPM1
Characterization of the Opp peptide transporter of Corynebacterium pseudotuberculosis and its role in virulence and pathogenicity.
BioMed research international | 2014-01-01 | PMID 24895581
Moraes Pablo M R O, Seyffert Nubia, Silva Wanderson M and 7 more
Antioxidant defense enzyme genes and asthma susceptibility: gender-specific effects and heterogeneity in gene-gene interactions between pathogenetic variants of the disease.
BioMed research international | 2014-01-01 | PMID 24895604
Polonikov Alexey V, Ivanov Vladimir P, Bogomazov Alexey D and 3 more
Genes: GSR, PON2
Association between eNOS 4b/a polymorphism and the risk of diabetic retinopathy in type 2 diabetes mellitus: a meta-analysis.
Journal of diabetes research | 2014-01-01 | PMID 24895640
Ma Ze-jun, Chen Rui, Ren Hui-Zhu and 3 more
Isolation of three different bacteriophage from mesophilic Aeromonas sp. that use different types of monopolar flagella as their primary receptor.
FEMS microbiology letters | 1998-04-01 | PMID 24895749
Rubires X, Merino S, Aguilar A and 2 more
Multi locus sequence typing (MLST) used as a tool to confirm the ability of susceptible Helicobacter pylori strains to gain resistance to clarithromycin during eradication therapy.
Hepato-gastroenterology | 2000-01-01 | PMID 24895826
Skvarc Miha, Kofol Romina, Samo Jeverica and 3 more
Comparative susceptibility of Channel Catfish, Blue Catfish, and their hybrid cross to experimental challenge with Bolbophorus damnificus (Digenea: Bolbophoridae) cercariae.
Journal of aquatic animal health | 2014-06-01 | PMID 24895863
Griffin Matt J, Reichley Stephen R, Khoo Lester H and 4 more
Gene therapy in patient-specific stem cell lines and a preclinical model of retinitis pigmentosa with membrane frizzled-related protein defects.
Molecular therapy : the journal of the American Society of Gene Therapy | 2014-09-01 | PMID 24895994
Li Yao, Wu Wen-Hsuan, Hsu Chun-Wei and 10 more
Genes: RPE, MFRP
Prevalence of WHO transmitted drug resistance mutations by deep sequencing in antiretroviral-naïve subjects in Hunan Province, China.
PloS one | 2014-01-01 | PMID 24896087
Xiaobai Zou, Xi Chen, Tian Hongping and 8 more
Regeneration of Solanum nigrum by somatic embryogenesis, involving frog egg-like body, a novel structure.
PloS one | 2014-01-01 | PMID 24896090
Xu Kedong, Chang Yunxia, Liu Kun and 13 more
Pore dynamics and conductance of RyR1 transmembrane domain.
Biophysical journal | 2014-06-03 | PMID 24896116
Shirvanyants David, Ramachandran Srinivas, Mei Yingwu and 3 more
Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes.
European journal of human genetics : EJHG | 2015-03-01 | PMID 24896146
Justino Ana, Dias Patrícia, João Pina Maria and 5 more
Genes: RIT1
Role of TNF block genetic variants in HIV-associated sensory neuropathy in black Southern Africans.
European journal of human genetics : EJHG | 2015-03-01 | PMID 24896147
Wadley Antonia L, Hendry Liesl M, Kamerman Peter R and 4 more
Genes: TNF, LTA, NFKBIL1
The functional polymorphism rs73598374:G>A (p.Asp8Asn) of the ADA gene is associated with telomerase activity and leukocyte telomere length.
European journal of human genetics : EJHG | 2015-02-01 | PMID 24896148
Concetti Fabio, Carpi Francesco M, Nabissi Massimo and 3 more
Genes: ADA
Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'.
European journal of human genetics : EJHG | 2014-11-01 | PMID 24896149
Deelen Patrick, Menelaou Androniki, van Leeuwen Elisabeth M and 20 more
Genes: MAF
Genome-wide haplotypic testing in a Finnish cohort identifies a novel association with low-density lipoprotein cholesterol.
European journal of human genetics : EJHG | 2015-05-01 | PMID 24896150
Zhang Qian S, Browning Brian L, Browning Sharon R
Genes: ALB
Improved phylogenetic resolution and rapid diversification of Y-chromosome haplogroup K-M526 in Southeast Asia.
European journal of human genetics : EJHG | 2015-03-01 | PMID 24896152
Karafet Tatiana M, Mendez Fernando L, Sudoyo Herawati and 2 more
Use of stereotypical mutational motifs to define resolution limits for the ultra-deep resequencing of mitochondrial DNA.
European journal of human genetics : EJHG | 2015-03-01 | PMID 24896153
Gardner Kristian, Payne Brendan A I, Horvath Rita and 1 more
Genome sequencing identifies major causes of severe intellectual disability.
Nature | 2014-07-17 | PMID 24896178
Gilissen Christian, Hehir-Kwa Jayne Y, Thung Djie Tjwan and 18 more
Avoidance of ribonucleotide-induced mutations by RNase H2 and Srs2-Exo1 mechanisms.
Nature | 2014-07-10 | PMID 24896181
Potenski Catherine J, Niu Hengyao, Sung Patrick and 1 more
Novel somatic and germline mutations in intracranial germ cell tumours.
Nature | 2014-07-10 | PMID 24896186
Wang Linghua, Yamaguchi Shigeru, Burstein Matthew D and 23 more
Genes: AKT1, KIT, BCORL1, CBL, KRAS, NRAS
Genome at juncture of early human migration: a systematic analysis of two whole genomes and thirteen exomes from Kuwaiti population subgroup of inferred Saudi Arabian tribe ancestry.
PloS one | 2014-01-01 | PMID 24896259
Alsmadi Osama, John Sumi E, Thareja Gaurav and 4 more
Genes: ARSA