Ausgabe 1/2011
Inhalt (174 Artikel)
A validation of the first genome-wide association study of calcaneus ultrasound parameters in the European Male Ageing Study
Delnaz Roshandel, Wendy Thomson, Stephen R Pye, Steven Boonen, Herman Borghs, Dirk Vanderschueren, Ilpo T Huhtaniemi, Judith E Adams, Kate A Ward, Gyorgy Bartfai, Felipe Casanueva, Joseph D Finn, Gianni Forti, Aleksander Giwercman, Thang S Han, Krzysztof Kula, Michael E Lean, Neil Pendleton, Margus Punab, Alan J Silman, Frederick C Wu, Kate L Holliday, Terence W O'Neill
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 Ræder, Carl GP Platou, Kristian Midthjell, Kristian Hveem, Anders Molven, Pål R Njølstad
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 Yoon Choi
Whole-genome amplified DNA from stored dried blood spots is reliable in high resolution melting curve and sequencing analysis
Bo G Winkel, Mads V Hollegaard, Morten S Olesen, Jesper H Svendsen, Stig Haunsø, David M Hougaard, Jacob Tfelt-Hansen
Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci
Iina Niittymäki, Sari Tuupanen, Yilong Li, Heikki Järvinen, Jukka-Pekka Mecklin, Ian PM Tomlinson, Richard S Houlston, Auli Karhu, Lauri A Aaltonen
The role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study
Sally L Chappell, Leslie Daly, Juzer Lotya, Aiman Alsaegh, Tamar Guetta-Baranes, Josep Roca, Roberto Rabinovich, Kevin Morgan, Ann B Millar, Seamas C Donnelly, Vera Keatings, William MacNee, Jan Stolk, Pieter S Hiemstra, Massimo Miniati, Simonetta Monti, Clare M O'Connor, Noor Kalsheker
Evaluation of genetic susceptibility to childhood allergy and asthma in an African American urban population
Bonnie R Joubert, David M Reif, Stephen W Edwards, Kevin A Leiner, Edward E Hudgens, Peter Egeghy, Jane E Gallagher, Elaine Cohen Hubal
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
Clinical and Molecular Characterization of Ataxia with Oculomotor Apraxia Patients In Saudi Arabia
Saeed A Bohlega, Jameela M Shinwari, Latifa J Al Sharif, Dania S Khalil, Thamer S Alkhairallah, Nada A Al Tassan
Methylenetetrahydrofolate reductase C677T polymorphism in patients with lung cancer in a Korean population
Lian-Hua Cui, Min-Ho Shin, Hee Nam Kim, Hye-Rim Song, Jin-Mei Piao, Sun-Seog Kweon, Jin-Su Choi, Woo-Jun Yun, Young-Chul Kim, In-Jae Oh, Kyu-Sik Kim
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
Genetic variants in RET and risk of Hirschsprung's disease in Southeastern Chinese: a haplotype-based analysis
Jinfa Tou, Li Wang, Li Liu, Ying Wang, Rong Zhong, Shengyu Duan, Weiguang Liu, Qixing Xiong, Qinglong Gu, Hong Yang, Hui Li
The PTPN22C1858T gene variant is associated with proinsulin in new-onset type 1 diabetes
Lotte B Nielsen, Sven Pörksen, Marie Louise M Andersen, Siri Fredheim, Jannet Svensson, Philip Hougaard, Maurizio Vanelli, Jan Åman, Henrik B Mortensen, Lars Hansen
Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene
Mohammad M Ghahramani Seno, Benjamin YM Kwan, Ka Ki M Lee-Ng, Rainald Moessner, Anath C Lionel, Christian R Marshall, Stephen W Scherer
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
Interactions between genetic admixture, ethnic identity, APOE genotype and dementia prevalence in an admixed Cuban sample; a cross-sectional population survey and nested case-control study
Beatriz Marcheco Teruel, Juan J Llibre Rodríguez, Paul McKeigue, Teresa Collazo Mesa T, Evelyn Fuentes, Adolfo Valhuerdi Cepero A, Milagros A Guerra Hernandez, John RM Copeland JRM, Cleusa P Ferri, Martin J Prince
Pituitary tumor transforming gene-1 haplotypes and risk of pituitary adenoma: a case-control study
Shuai Chen, Lan Xiao, Zhixiong Liu, Jinfang Liu, Yunsheng Liu
PTPRF is disrupted in a patient with syndromic amastia
Surasawadee Ausavarat, Siraprapa Tongkobpetch, Verayuth Praphanphoj, Charan Mahatumarat, Nond Rojvachiranonda, Thiti Snabboon, Thomas C Markello, William A Gahl, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Parental ages and levels of DNA methylation in the newborn are correlated
Ronald M Adkins, Fridtjof Thomas, Frances A Tylavsky, Julia Krushkal
BCL-2 (-938C > A) polymorphism is associated with breast cancer susceptibility
Ning Zhang, Xiaoyan Li, Kai Tao, Liyu Jiang, Tingting Ma, Shi Yan, Cunzhong Yuan, Meena S Moran, Faming Liang, Bruce G Haffty, Qifeng Yang
Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy
Gitte J Almind, Karen Grønskov, Dan Milea, Michael Larsen, Karen Brøndum-Nielsen, Jakob Ek
Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder
Vanesa Álvarez-Iglesias, Ana Mosquera-Miguel, Ivón Cuscó, Ángel Carracedo, Luis Alberto Pérez-Jurado, Antonio Salas
Association of kynurenine aminotransferase II gene C401T polymorphism with immune response in patients with meningitis
Fladjule Rejane Soares de Souza, Fabrícia Lima Fontes, Thayse Azevedo da Silva, Leonam Gomes Coutinho, Stephen L Leib, Lucymara Fassarella Agnez-Lima
The role of the fat mass and obesity associated gene (FTO) in breast cancer risk
Virginia Kaklamani, Nengjun Yi, Maureen Sadim, Kalliopi Siziopikou, Kui Zhang, Yanfei Xu, Sarah Tofilon, Surbhi Agarwal, Boris Pasche, Christos Mantzoros
Single nucleotide polymorphisms at the TRAF1/C5 locus are associated with rheumatoid arthritis in a Han Chinese population
Jing Zhu, Dinging Zhang, Fengxia Wu, Fei He, Xiaoqi Liu, Lijun Wu, Bin Zhou, Jianping Liu, Fang Lu, Jian Liu, Ruijun Luo, Wubin Long, Minghui Yang, Shi Ma, Xiaodan Wu, Yi Shi, Tong Wu, Ying Lin, Jiyun Yang, Guohua Yuan, Zhenglin Yang
A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability
Muzammil Ahmad Khan, Muhammad Arshad Rafiq, Abdul Noor, Nadir Ali, Ghazanfar Ali, John B Vincent, Muhammad Ansar
Evaluation of variants in the selectin genes in age-related macular degeneration
Robert F Mullins, Jessica M Skeie, James C Folk, Frances M Solivan-Timpe, Thomas A Oetting, Jian Huang, Kai Wang, Edwin M Stone, John H Fingert
A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1
Gaël Manes, Maxime Hebrard, Béatrice Bocquet, Isabelle Meunier, Delphine Coustes-Chazalette, Audrey Sénéchal, Anne Bolland-Augé, Diana Zelenika, Christian P Hamel
Geographic differences in allele frequencies of susceptibility SNPs for cardiovascular disease
Keyue Ding, Iftikhar J Kullo
Fetal ERAP2 variation is associated with preeclampsia in African Americans in a case-control study
Lori D Hill, DaShaunda D Hilliard, Timothy P York, Sindhu Srinivas, Juan P Kusanovic, Ricardo Gomez, Michal A Elovitz, Roberto Romero, Jerome F Strauss III
UGT1A1 sequence variants and bilirubin levels in early postnatal life: a quantitative approach
Neil A Hanchard, Jennifer Skierka, Amy Weaver, Brad S Karon, Dietrich Matern, Walter Cook, Dennis J O'Kane
New adipokines vaspin and omentin. Circulating levels and gene expression in adipose tissue from morbidly obese women
Teresa Auguet, Yunuen Quintero, David Riesco, Beatriz Morancho, Ximena Terra, Anna Crescenti, Montserrat Broch, Carmen Aguilar, Montserrat Olona, José Antonio Porras, Mercè Hernandez, Fátima Sabench, Daniel del Castillo, Cristóbal Richart
An association study on contrasting cystic fibrosis endophenotypes recognizes KRT8 but not KRT18 as a modifier of cystic fibrosis disease severity and CFTR mediated residual chloride secretion
Frauke Stanke, Silke Hedtfeld, Tim Becker, Burkhard Tümmler
Rapid screening for chromosomal aneuploidies using array-MLPA
Jing-Bin Yan, Miao Xu, Can Xiong, Da-Wen Zhou, Zhao-Rui Ren, Ying Huang, Monique Mommersteeg, Rinie van Beuningen, Ying-Tai Wang, Shi-Xiu Liao, Fanyi Zeng, Ying Wu, Yi-Tao Zeng
SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case
Marcello Frigerio, Elena Passeri, Tiziana de Filippis, Daniela Rusconi, Rea Valaperta, Mario Carminati, Anita Donnangelo, Elena Costa, Luca Persani, Palma Finelli, Sabrina Corbetta
Associations of common polymorphisms in GCKR with type 2 diabetes and related traits in a Han Chinese population: a case-control study
Yan Ling, Xiaomu Li, Qian Gu, Hongyan Chen, Daru Lu, Xin Gao
Association of PGC-1alphapolymorphisms with age of onset and risk of Parkinson's disease
Joanne Clark, Sonika Reddy, Kangni Zheng, Rebecca A Betensky, David K Simon
Evidence of association with type 1 diabetes in the SLC11A1 gene region
Jennie HM Yang, Kate Downes, Joanna MM Howson, Sarah Nutland, Helen E Stevens, Neil M Walker, John A Todd
A polymorphism in the regulatory region of PRNPis 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
Evaluation of 22 genetic variants with Crohn's Disease risk in the Ashkenazi Jewish population: a case-control study
Inga Peter, Adele A Mitchell, Laurie Ozelius, Monica Erazo, Jianzhong Hu, Dana Doheny, Maria T Abreu, Daniel H Present, Thomas Ullman, Keith Benkov, Burton I Korelitz, Lloyd Mayer, Robert J Desnick
CRP polymorphisms and chronic kidney disease in the third national health and nutrition examination survey
Adriana M Hung, T Alp Ikizler, Marie R Griffin, Kimberly Glenn, Robert A Greevy, Carlos G Grijalva, Edward D Siew, Dana C Crawford
A novel COMPmutation in a pseudoachondroplasia family of Chinese origin
Li Dai, Liang Xie, Yanping Wang, Meng Mao, Nana Li, Jun Zhu, Christopher Kim, Yawei Zhang
Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene
Chia-Cheng Hung, Shin-Yu Lin, Chien-Nan Lee, Chih-Ping Chen, Shuan-Pei Lin, Mei-Chyn Chao, Shyh-Shin Chiou, Yi-Ning Su
Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3mutation
Anette Bygum, Christina R Fagerberg, Ole J Clemmensen, Britta Fiebig, Christian Hafner
A 115-bp MethyLight assay for detection of p16 (CDKN2A) methylation as a diagnostic biomarker in human tissues
Jing Zhou, Jie Cao, Zheming Lu, Hongwei Liu, Dajun Deng
Novel variants in the PRDX6 Gene and the risk of Acute Lung Injury following major trauma
Melanie Rushefski, Richard Aplenc, Nuala Meyer, Mingyao Li, Rui Feng, Paul N Lanken, Robert Gallop, Scarlett Bellamy, A Russell Localio, Sheldon I Feinstein, Aron B Fisher, Steven M Albelda, Jason D Christie
Clinical and molecular characterization of a transmitted reciprocal translocation t(1;12)(p32.1;q21.3) in a family co-segregating with mental retardation, language delay, and microcephaly
Hsiao-Mei Liao, Jye-Siung Fang, Yann-Jang Chen, Kuang-Lun Wu, Kuei-Fang Lee, Chia-Hsiang Chen
Estrogen and progesterone-related gene variants and colorectal cancer risk in women
Jennifer H Lin, JoAnn E Manson, Peter Kraft, Barbara B Cochrane, Marc J Gunter, Rowan T Chlebowski, Shumin M Zhang
Association of the MAOA promoter uVNTR polymorphism with suicide attempts in patients with major depressive disorder
For-Wey Lung, Dong-Sheng Tzeng, Mei-Feng Huang, Ming-Been Lee
No evidence for association between SLC11A1and visceral leishmaniasis in India
Sanjana Mehrotra, Joyce Oommen, Anshuman Mishra, Medhavi Sudharshan, Puja Tiwary, Sarra E Jamieson, Michaela Fakiola, Deepa Selvi Rani, Kumarasamy Thangaraj, Madhukar Rai, Shyam Sundar, Jenefer M Blackwell
Melatonin receptor 1 B polymorphisms associated with the risk of gestational diabetes mellitus
Jason Y Kim, Hyun Sub Cheong, Byung-Lae Park, Sei Hyun Baik, Sunmin Park, Si Won Lee, Min-Hyoung Kim, Jin Hoon Chung, June Seek Choi, Moon-Young Kim, Jae-Hyug Yang, Dong-Hee Cho, Hyoung Doo Shin, Sung-Hoon Kim
Genetic polymorphisms in folate pathway enzymes, DRD4 and GSTM1 are related to temporomandibular disorder
Angel Aneiros-Guerrero, Ana M Lendinez, Arturo R Palomares, Beatriz Perez-Nevot, Lidia Aguado, Alvaro Mayor-Olea, Maximiliano Ruiz-Galdon, Armando Reyes-Engel
Genetic factors associated with patient-specific warfarin dose in ethnic Indonesians
Ivet M Suriapranata, Wen Ye Tjong, Tingliang Wang, Andi Utama, Sunu B Raharjo, Yoga Yuniadi, Susan SW Tai
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
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
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE
Steven E Boyden, Anna R Duncan, Elicia A Estrella, Hart GW Lidov, Lane J Mahoney, Jonathan S Katz, Louis M Kunkel, Peter B Kang
Functional assays to determine the significance of two common XPC 3'UTR variants found in bladder cancer patients
Boling Qiao, Gina B Scott, Faye Elliott, Laurence Vaslin, Johanne Bentley, Janet Hall, D Timothy Bishop, Margaret A Knowles, Anne E Kiltie
Serotonin transporter gene polymorphism may be associated with functional dyspepsia in a Japanese population
Fumihiko Toyoshima, Tadayuki Oshima, Shigemi Nakajima, Jun Sakurai, Junji Tanaka, Toshihiko Tomita, Kazutoshi Hori, Takayuki Matsumoto, Hiroto Miwa
ATA homozigosity in the IL-10gene promoter is a risk factor for schizophrenia in Spanish females: a case control study
Berta Almoguera, Rosa Riveiro-Alvarez, Jorge Lopez-Castroman, Pedro Dorado, Rosario Lopez-Rodriguez, Pablo Fernandez-Navarro, Enrique Baca-García, Jose Fernandez-Piqueras, Rafael Dal-Ré, Francisco Abad-Santos, Adrián LLerena, Carmen Ayuso
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 Claudia 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
Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III
Galina Yu Zheleznyakova, Anton V Kiselev, Viktor G Vakharlovsky, Mathias Rask-Andersen, Rohit Chavan, Anna A Egorova, Helgi B Schiöth, Vladislav S Baranov
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
Association of CD14 -260 (-159) C>Tand asthma: a systematic review and meta-analysis
Linlu Zhao, Michael B Bracken
A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population
Faiqa Imtiaz, Khalid Taibah, Khushnooda Ramzan, Ghada Bin-Khamis, Shelley Kennedy, Bashayer Al-Mubarak, Daniah Trabzuni, Rabab Allam, Abeer Al-Mostafa, Sameera Sogaty, Abdulmoneem H Al-Shaikh, Saeed S Bamukhayyar, Brian F Meyer, Mohammed Al-Owain
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
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
Mutation screening of the RNF8, UBC13 and MMS2 genes in Northern Finnish breast cancer families
Mikko Vuorela, Katri Pylkäs, Robert Winqvist
Genetic polymorphisms of innate immunity-related inflammatory pathways and their association with factors related to type 2 diabetes
Paul Arora, Bibiana Garcia-Bailo, Zari Dastani, Darren Brenner, Andre Villegas, Suneil Malik, Timothy D Spector, Brent Richards, Ahmed El-Sohemy, Mohamed Karmali, Alaa Badawi
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
Studies of a genetic variant in HK1 in relation to quantitative metabolic traits and to the prevalence of type 2 diabetes
Anette P Gjesing, Aneta A Nielsen, Ivan Brandslund, Cramer Christensen, Anneli Sandbæk, Torben Jørgensen, Daniel Witte, Amélie Bonnefond, Phillippe Froguel, Torben Hansen, Oluf Pedersen
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
Anne Gregor, Beate Albrecht, Ingrid Bader, Emilia K Bijlsma, Arif B Ekici, Hartmut Engels, Karl Hackmann, Denise Horn, Juliane Hoyer, Jakub Klapecki, Jürgen Kohlhase, Isabelle Maystadt, Sandra Nagl, Eva Prott, Sigrid Tinschert, Reinhard Ullmann, Eva Wohlleber, Geoffrey Woods, André Reis, Anita Rauch, Christiane Zweier
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
Vitamin D binding protein variants associate with asthma susceptibility in the Chinese han population
Fei Li, Lei Jiang, Saffron A Willis-Owen, Youming Zhang, Jinming Gao
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
Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)
Kim M Keppler-Noreuil, Catherine Blumhorst, Julie C Sapp, Danielle Brinckman, Jennifer Johnston, Peggy C Nopoulos, Leslie G Biesecker
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
Genome-Wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population
Xinmin Liu, Rong Cheng, Miguel Verbitsky, Sergey Kisselev, Andrew Browne, Helen Mejia-Sanatana, Elan D Louis, Lucien J Cote, Howard Andrews, Cheryl Waters, Blair Ford, Steven Frucht, Stanley Fahn, Karen Marder, Lorraine N Clark, Joseph H Lee
Association between polymorphisms in the coagulation factor VII gene and coronary heart disease risk in different ethnicities: a meta-analysis
Xingbo Mo, Yongchen Hao, Xueli Yang, Shufeng Chen, Xiangfeng Lu, Dongfeng Gu
Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients
Sven Thoms, Sabine Grønborg, Jana Rabenau, Andreas Ohlenbusch, Hendrik Rosewich, Jutta Gärtner
Genome-wide copy number variation (CNV) in patients with autoimmune Addison's disease
Ingeborg Brønstad, Anette SB Wolff, Kristian Løvås, Per M Knappskog, Eystein S Husebye
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
The first report of RPSA polymorphisms, also called 37/67 kDa LRP/LR gene, in sporadic Creutzfeldt-Jakob disease (CJD)
Jisuk Yun, Hyoung-Tae Jin, Yun-Jung Lee, Eun-Kyoung Choi, Richard I Carp, Byung-Hoon Jeong, Yong-Sun Kim
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
De novo deletion in MECP2 in a monozygotic twin pair: a case report
Kirti Mittal, Madhulika Kabra, Ramesh Juyal, Thelma BK
No association of TNFRSF1B variants with type 2 diabetes in Indians of Indo-European origin
Rubina Tabassum, Anubha Mahajan, Ganesh Chauhan, Om Prakash Dwivedi, Himanshu Dubey, Vasudha Sharma, Bratashree Kundu, Saurabh Ghosh, Nikhil Tandon, Dwaipayan Bharadwaj
Effect of heme oxygenase-1 polymorphisms on lung function and gene expression
Goh Tanaka, Farzian Aminuddin, Loubna Akhabir, Jian-Qing He, Karey Shumansky, John E Connett, Nicholas R Anthonisen, Raja T Abboud, Peter D Paré, Andrew J Sandford
The C242T polymorphism of the p22-phox gene (CYBA) is associated with higher left ventricular mass in Brazilian hypertensive patients
Roberto Schreiber, Maria C Ferreira-Sae, Juliana A Ronchi, José A Pio-Magalhães, José A Cipolli, José R Matos-Souza, José G Mill, Aníbal E Vercesi, José E Krieger, Kleber G Franchini, Alexandre C Pereira, Wilson Nadruz Junior
Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type
Marcos Morey, Lidia Castro-Feijóo, Jesús Barreiro, Paloma Cabanas, Manuel Pombo, Marta Gil, Ignacio Bernabeu, José M Díaz-Grande, Lourdes Rey-Cordo, Gema Ariceta, Itxaso Rica, José Nieto, Ramón Vilalta, Loreto Martorell, Jaime Vila-Cots, Fernando Aleixandre, Ana Fontalba, Leandro Soriano-Guillén, José M García-Sagredo, Sixto García-Miñaur, Berta Rodríguez, Saioa Juaristi, Carmen García-Pardos, Antonio Martínez-Peinado, José M Millán, Ana Medeira, Oana Moldovan, Angeles Fernandez, Lourdes Loidi
Association of HLA-B*5801 allele and allopurinol-induced stevens johnson syndrome and toxic epidermal necrolysis: a systematic review and meta-analysis
Ratchadaporn Somkrua, Elizabeth E Eickman, Surasak Saokaew, Manupat Lohitnavy, Nathorn Chaiyakunapruk
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
Antiretroviral treatment-induced dyslipidemia in HIV-infected patients is influenced by the APOC3-related rs10892151 polymorphism
Gerard Aragonès, Carlos Alonso-Villaverde, Pedro Pardo-Reche, Anna Rull, Raúl Beltrán-Debón, Esther Rodríguez-Gallego, Laura Fernández-Sender, Jordi Camps, Jorge Joven
Investigation of 95 variants identified in a genome-wide study for association with mortality after acute coronary syndrome
Thomas M Morgan, John A House, Sharon Cresci, Philip Jones, Hooman Allayee, Stanley L Hazen, Yesha Patel, Riyaz S Patel, Danny J Eapen, Salina P Waddy, Arshed A Quyyumi, Marcus E Kleber, Winfried März, Bernhard R Winkelmann, Bernhard O Boehm, Harlan M Krumholz, John A Spertus
Significant linkage at chromosome 19q for otitis media with effusion and/or recurrent otitis media (COME/ROM)
Wei-Min Chen, E Kaitlynn Allen, Josyf C Mychaleckyj, Fang Chen, Xuanlin Hou, Stephen S Rich, Kathleen A Daly, Michèle M Sale
Association of C1QB gene polymorphism with schizophrenia in Armenian population
Roksana Zakharyan, Aren Khoyetsyan, Arsen Arakelyan, Anna Boyajyan, Anaida Gevorgyan, Anna Stahelova, Frantisek Mrazek, Martin Petrek
A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome
Aimee L Fenwick, Sarah C Bowdin, Regan EM Klatt, Andrew OM Wilkie
Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification
Larissa V Furtado, Whitney Wooderchak-Donahue, Alan F Rope, Angela T Yetman, Tracey Lewis, Parker Plant, Pinar Bayrak-Toydemir
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 Marc Limacher, Liliane Demange, Rosette Lidereau, Jean Pierre Fricker, Joseph Abecassis
Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome
Chiara Conte, Maria Rosaria D'Apice, Fabrizio Rinaldi, Stefano Gambardella, Federica Sangiuolo, Giuseppe Novelli
Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: Case report
Giovana T Torrezan, Felipe CC da Silva, Ana CV Krepischi, Érika MM Santos, Fábio de O Ferreira, Benedito M Rossi, Dirce M Carraro
Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia
Mi-Jung Kim, Seon-Tae Kim, Hyoung-Doo Lee, Kyu-Yong Lee, Jiyoung Seo, Jae-Bom Lee, Young-Jae Lee, Suk P Oh
SLCO1B1 rs4149056 polymorphism associated with statin-induced myopathy is differently distributed according to ethnicity in the Brazilian general population: Amerindians as a high risk ethnic group
Paulo CJL Santos, Renata AG Soares, Raimundo M Nascimento, George LL Machado-Coelho, José G Mill, José E Krieger, Alexandre C Pereira
Association of genetic variants in the promoter region of genes encoding p22phox (CYBA) and glutamate cysteine ligase catalytic subunit (GCLC) and renal disease in patients with type 1 diabetes mellitus
Suzana M Vieira, Maria B Monteiro, Tatiana Marques, Ana M Luna, Maria A Fortes, Márcia Nery, Márcia Queiroz, Sérgio A Dib, Márcio F Vendramini, Mirela J Azevedo, Luis H Canani, Maria C Parisi, Elizabeth J Pavin, Daniel Giannella-Neto, Maria L Corrêa-Giannella
IL13genetic polymorphisms, smoking, and eczema in women: a case-control study in Japan
Yoshihiro Miyake, Keiko Tanaka, Masashi Arakawa
Replication of LDL GWAs hits in PROSPER/PHASE as validation for future (pharmaco)genetic analyses
Stella Trompet, Anton JM de Craen, Iris Postmus, Ian Ford, Naveed Sattar, Muriel Caslake, David J Stott, Brendan M Buckley, Frank Sacks, James J Devlin, P Eline Slagboom, Rudi GJ Westendorp, J Wouter Jukema
Association of genetic variants in chromosome 17q21 and adult-onset asthma in a Chinese Han population
Rongfang Qiu, Hailing Zhao, Aihua Wang, Yaoqin Gong, Qiji Liu
A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer
Zaida Garcia-Casado, Ignacio Romero, Antonio Fernandez-Serra, Luis Rubio, Francisco Llopis, Ana Garcia, Pilar Llombart, Jose A Lopez-Guerrero
Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutation
Hideki Mutai, Hiroko Kouike, Eiko Teruya, Ikuko Takahashi-Kodomari, Hiroki Kakishima, Hidenobu Taiji, Shin-ichi Usami, Torayuki Okuyama, Tatsuo Matsunaga
TNFA-863 polymorphism is associated with a reduced risk of Chronic Obstructive Pulmonary Disease: A replication study
Elizabeth Córdoba-Lanús, Rebeca Baz-Dávila, Juan P de-Torres, María C Rodríguez-Pérez, Nicole Maca-Meyer, Nerea Varo, Chaxiraxi Medina-Coello, Armando Aguirre-Jaime, Ciro Casanova
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 Núñez-Torres, Raquel M Fernández, Manuel Jesus Acosta, Maria del Valle Enguix-Riego, Martina Marbá, Juan Carlos de Agustín, Luis Castaño, Guillermo Antiñolo, Salud Borrego
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
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
Serotonin receptor 3A polymorphism c.-42C > T is associated with severe dyspepsia
Suhreta Mujakovic, José JM ter Linde, Niek J de Wit, Corine J van Marrewijk, Gerdine AJ Fransen, N Charlotte Onland-Moret, Robert JF Laheij, Jean WM Muris, Diederick E Grobbee, Melvin Samsom, Jan BMJ Jansen, André Knottnerus, Mattijs E Numans
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
Case-control study of IL13 polymorphisms, smoking, and rhinoconjunctivitis in Japanese women: the Kyushu Okinawa Maternal and Child Health Study
Yoshihiro Miyake, Keiko Tanaka, Masashi Arakawa
The human epidermal growth factor receptor (EGFR) gene in European patients with advanced colorectal cancer harbors infrequent mutations in its tyrosine kinase domain
Brigitte Metzger, Laetitia Chambeau, Dominique Y Begon, Carlo Faber, Jacques Kayser, Guy Berchem, Marc Pauly, Jacques Boniver, Philippe Delvenne, Mario Dicato, Thomas Wenner
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
Recent methods for polygenic analysis of genome-wide data implicate an important effect of common variants on cardiovascular disease risk
Matthew A Simonson, Amanda G Wills, Matthew C Keller, Matthew B McQueen
Genotype-phenotype correlations among BRCA14153delA and 5382insC mutation carriers from Latvia
Grigorijs Plakhins, Arvids Irmejs, Andris Gardovskis, Signe Subatniece, Santa Rozite, Marianna Bitina, Guntars Keire, Gunta Purkalne, Uldis Teibe, Genadijs Trofimovics, Edvins Miklasevics, Janis Gardovskis
Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study
Meredith C Foster, Qiong Yang, Shih-Jen Hwang, Udo Hoffmann, Caroline S Fox
Genetic susceptibility of intervertebral disc degeneration among young Finnish adults
Anthi Kelempisioti, Pasi J Eskola, Annaleena Okuloff, Ulla Karjalainen, Jani Takatalo, Iita Daavittila, Jaakko Niinimäki, Roberto B Sequeiros, Osmo Tervonen, Svetlana Solovieva, Patrick YP Kao, You-Qiang Song, Kenneth MC Cheung, Danny Chan, Leena Ala-Kokko, Marjo-Riitta Järvelin, Jaro Karppinen, Minna Männikkö
High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy
Larissa R Stewart, April L Hall, Sung-Hae L Kang, Chad A Shaw, Arthur L Beaudet
Heritability of physical activity traits in Brazilian families: the Baependi Heart Study
Andréa RVR Horimoto, Suely R Giolo, Camila M Oliveira, Rafael O Alvim, Júlia P Soler, Mariza de Andrade, José E Krieger, Alexandre C Pereira
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
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
Antagonistic pleiotropy as a widespread mechanism for the maintenance of polymorphic disease alleles
Ashley JR Carter, Andrew Q Nguyen
A non-synonymous coding change in the CYP19A1 gene Arg264Cys (rs700519) does not affect circulating estradiol, bone structure or fracture
Jenny Z Wang, Mandeep S Deogan, Joshua R Lewis, Shelby Chew, Ben H Mullin, Tegan J McNab, Scott G Wilson, Evan Ingley, Richard L Prince
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
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
Folate network genetic variation, plasma homocysteine, and global genomic methylation content: a genetic association study
Susan M Wernimont, Andrew G Clark, Patrick J Stover, Martin T Wells, Augusto A Litonjua, Scott T Weiss, J Michael Gaziano, Katherine L Tucker, Andrea Baccarelli, Joel Schwartz, Valentina Bollati, Patricia A Cassano
Genetic and functional evaluation of the role of CXCR1 and CXCR2 in susceptibility to visceral leishmaniasis in north-east India
Sanjana Mehrotra, Michaela Fakiola, Joyce Oommen, Sarra E Jamieson, Anshuman Mishra, Medhavi Sudarshan, Puja Tiwary, Deepa Selvi Rani, Kumarasamy Thangaraj, Madhukar Rai, Shyam Sundar, Jenefer M Blackwell
Candidate gene analysis of spontaneous preterm delivery: New insights from re-analysis of a case-control study using case-parent triads and control-mother dyads
Solveig Myking, Ronny Myhre, Håkon K Gjessing, Nils-Halvdan Morken, Verena Sengpiel, Scott M Williams, Kelli K Ryckman, Per Magnus, Bo Jacobsson
Effects of SLC10A2 variant rs9514089 on gallstone risk and serum cholesterol levels- meta-analysis of three independent cohorts
Anke Tönjes, Henning Wittenburg, Jan Halbritter, Olga Renner, Simone Harsch, Eduard F Stange, Frank Lammert, Michael Stumvoll, Peter Kovacs
Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations
Nelson Lopez Jimenez, Jason Flannick, Mani Yahyavi, Jiang Li, Tanya Bardakjian, Leath Tonkin, Adele Schneider, Elliott H Sherr, Anne M Slavotinek
Disorder-specific effects of polymorphisms at opposing ends of the Insulin Degrading Enzymegene
Jasmin Bartl, Claus-Jürgen Scholz, Margareta Hinterberger, Susanne Jungwirth, Ildiko Wichart, Michael K Rainer, Susanne Kneitz, Walter Danielczyk, Karl H Tragl, Peter Fischer, Peter Riederer, Edna Grünblatt
"Single nucleotide polymorphisms of the OPG/RANKL system genes in primary hyperparathyroidism and their relationship with bone mineral density"
María Piedra, María T García-Unzueta, Ana Berja, Blanca Paule, Bernardo A Lavín, Carmen Valero, José A Riancho, José A Amado
Meta-analysis of 8q24 for seven cancers reveals a locus between NOV and ENPP2 associated with cancer development
Abra G Brisbin, Yan W Asmann, Honglin Song, Ya-Yu Tsai, Jeremiah A Aakre, Ping Yang, Robert B Jenkins, Paul Pharoah, Fredrick Schumacher, David V Conti, David J Duggan, Mark Jenkins, John Hopper, Steven Gallinger, Polly Newcomb, Graham Casey, Thomas A Sellers, Brooke L Fridley
Genome-wide association study identifies PERLD1 as asthma candidate gene
Ramani Anantharaman, Anand Kumar Andiappan, Pallavi Parate Nilkanth, Bani Kaur Suri, De Yun Wang, Fook Tim Chew
The role of ALOX5AP, LTA4H and LTB4R polymorphisms in determining baseline lung function and COPD susceptibility in UK smokers
Asif S Tulah, Stuart G Parker, Miriam F Moffatt, Andrew J Wardlaw, Martin J Connolly, Ian Sayers
Association of COMT genotypes with S-COMT promoter methylation in growth-discordant monozygotic twins and healthy adults
Felix Schreiner, Osman El-Maarri, Bettina Gohlke, Sonja Stutte, Nicole Nuesgen, Manuel Mattheisen, Rolf Fimmers, Peter Bartmann, Johannes Oldenburg, Joachim Woelfle
Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta
Ortrud K Steinlein, Eric Aichinger, Holger Trucks, Thomas Sander
SERPINE2 haplotype as a risk factor for panlobular type of emphysema
Mari K Kukkonen, Emmi Tiili, Satu Hämäläinen, Tapio Vehmas, Panu Oksa, Päivi Piirilä, Ari Hirvonen
Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease
Chaowen Yu, Yuan Yang, Lin Zou, Zhangxue Hu, Jing Li, Yunqiang Liu, Yongxin Ma, Mingyi Ma, Dan Su, Sizhong Zhang
Association analysis identifies ZNF750 regulatory variants in psoriasis
Ramon Y Birnbaum, Genki Hayashi, Idan Cohen, Annie Poon, Haoyan Chen, Ernest T Lam, Pui-Yan Kwok, Ohad S Birk, Wilson Liao
Risk variants in BMP4 promoters for nonsyndromic cleft lip/palate in a Chilean population
José Suazo, Julio C Tapia, José Luis Santos, Víctor G Castro, Alicia Colombo, Rafael Blanco
A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Chinese patients
Zhiqing Wang, Yulan Chen, Baoping Wu, Haoxuan Zheng, Jiman He, Bo Jiang
Mechanisms of ring chromosome formation, ring instability and clinical consequences
Roberta S Guilherme, Vera F Ayres Meloni, Chong A Kim, Renata Pellegrino, Sylvia S Takeno, Nancy B Spinner, Laura K Conlin, Denise M Christofolini, Leslie D Kulikowski, Maria I Melaragno
HNF1AG319S variant, active cigarette smoking and incident type 2 diabetes in Aboriginal Canadians: a population-based epidemiological study
Sylvia H Ley, Robert A Hegele, Stewart B Harris, Mary Mamakeesick, Henian Cao, Philip W Connelly, Joel Gittelsohn, Ravi Retnakaran, Bernard Zinman, Anthony J Hanley
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 Ibañez, Miguel A Lopez-Nevot
Lack of association between genetic polymorphisms within DUSP12 - ATF6locus and glucose metabolism related traits in a Chinese population
Cheng Hu, Rong Zhang, Congrong Wang, Xiaojing Ma, Jie Wang, Yuqian Bao, Kunsan Xiang, Weiping Jia
The minor C-allele of rs2014355 in ACADSis associated with reduced insulin release following an oral glucose load
Malene Hornbak, Karina Banasik, Johanne M Justesen, Nikolaj T Krarup, Camilla H Sandholt, Åsa Andersson, Annelli Sandbæk, Torsten Lauritzen, Charlotta Pisinger, Daniel R Witte, Thorkild IA Sørensen, Oluf Pedersen, Torben Hansen
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 Lindström, Marjukka Kolehmainen, Johan G Eriksson, Mika Venojärvi, Pirjo Ilanne-Parikka, Sirkka Keinänen-Kiukaanniemi, Jaakko Tuomilehto, Matti Uusitupa
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
Association analysis of PON2 genetic variants with serum paraoxonase activity and systemic lupus erythematosus
Sudeshna Dasgupta, F Yesim Demirci, Amy S Dressen, Amy H Kao, Elisa Y Rhew, Rosalind Ramsey-Goldman, Susan Manzi, Candace M Kammerer, M Ilyas Kamboh
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
The occurrence of germline BRCA1 and BRCA2sequence alterations in Slovenian population
Vida Stegel, Mateja Krajc, Janez Žgajnar, Erik Teugels, Jacques De Grève, Marko Hočevar, Srdjan Novaković
Testing the thrifty gene hypothesis: the Gly482Ser variant in PPARGC1Ais 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
KCNE1D85N polymorphism — a sex-specific modifier in type 1 long QT syndrome?
Annukka M Lahtinen, Annukka Marjamaa, Heikki Swan, Kimmo Kontula
Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome
Adela Castillejo, Carla Guarinos, Ana Martinez-Canto, Victor-Manuel Barbera, Cecilia Egoavil, Maria-Isabel Castillejo, Lucia Perez-Carbonell, Ana-Beatriz Sanchez-Heras, Angel Segura, Enrique Ochoa, Rafael Lazaro, Clara Ruiz-Ponte, Luis Bujanda, Montserrat Andreu, Antoni Castells, Angel Carracedo, Xavier Llor, Juan Clofent, Cristina Alenda, Artemio Paya, Rodrigo Jover, Jose-Luis Soto
CYP2C19 and ABCB1gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population
Paulo CJL Santos, Renata AG Soares, Diogo BG Santos, Raimundo M Nascimento, George LLM Coelho, José C Nicolau, José G Mill, José E Krieger, Alexandre C Pereira
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 Jr, Natzi Sakalihasan, Robert E Ferrell, Charles M Schworer, Zoran Gatalica, Susan Land, Helena Kuivaniemi
Enhanced genetic maps from family-based disease studies: population-specific comparisons
Chunsheng He, Daniel E Weeks, Steven Buyske, Goncalo R Abecasis, William C Stewart, Tara C Matise
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
Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with Intellectual Disability
Cecile Pagan, Hany Goubran Botros, Karine Poirier, Anne Dumaine, Stéphane Jamain, Sarah Moreno, Arjan de Brouwer, Hilde Van Esch, Richard Delorme, Jean-Marie Launay, Andreas Tzschach, Vera Kalscheuer, Didier Lacombe, Sylvain Briault, Frédéric Laumonnier, Martine Raynaud, Bregje W van Bon, Marjolein H Willemsen, Marion Leboyer, Jamel Chelly, Thomas Bourgeron
Variants in KCNQ1 increase type II diabetes susceptibility in South Asians: A study of 3,310 subjects from India and the US
Latonya F Been, Sarju Ralhan, Gurpreet S Wander, Narinder K Mehra, JaiRup Singh, John J Mulvihill, Christopher E Aston, Dharambir K Sanghera
Evidence for population variation in TSC1 and TSC2 gene expression
Garilyn M Jentarra, Stephen G Rice, Shannon Olfers, David Saffen, Vinodh Narayanan
TCF7L2 and therapeutic response to sulfonylureas in patients with type 2 diabetes
Andreas Holstein, Michael Hahn, Antje Körner, Michael Stumvoll, Peter Kovacs
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
Bio-Repository of DNA in stroke (BRAINS): A study protocol
Sunaina Yadav, Renata Schanz, Ankita Maheshwari, Muhammad Saleem Khan, Julia Slark, Ranil de Silva, Paul Bentley, Philippe Froguel, Jaspal Kooner, Padma Shrivastav, Kameshwar Prasad, Pankaj Sharma
Hearing impairment risk and interaction of folate metabolism related gene polymorphisms in an aging study
Yasue Uchida, Saiko Sugiura, Fujiko Ando, Tsutomu Nakashima, Hiroshi Shimokata
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
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing
Francesca Magri, Roberto Del Bo, Maria G D'Angelo, Alessandra Govoni, Serena Ghezzi, Sandra Gandossini, Monica Sciacco, Patrizia Ciscato, Andreina Bordoni, Silvana Tedeschi, Francesco Fortunato, Valeria Lucchini, Matteo Cereda, Stefania Corti, Maurizio Moggio, Nereo Bresolin, Giacomo P Comi
Multiple primary malignancies and subtle mucocutaneous lesions associated with a novel PTENgene mutation in a patient with Cowden syndrome: Case report
Peter Vasovčák, Mária Šenkeříková, Jana Hatlová, Anna Křepelová
Variation in Uteroglobin-Related Protein 1 (UGRP1) gene is associated with Allergic Rhinitis in Singapore Chinese
Anand Kumar Andiappan, Wei Sheng Yeo, Pallavi Nilkanth Parate, Ramani Anantharaman, Bani Kaur Suri, De Yun Wang, Fook Tim Chew
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