Issue 1/2012
Content (124 Articles)
Association of polymorphisms in survivin gene with the risk of hepatocellular carcinoma in Chinese han population: a case control study
Yuhua Li, Jiaofeng Wang, Feng Jiang, Wenyao Lin, Wei Meng
Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report
Aleksander Jamsheer, Anna Sowińska, Leszek Kaczmarek, Anna Latos-Bieleńska
The C allele of JAK2 rs4495487 is an additional candidate locus that contributes to myeloproliferative neoplasm predisposition in the Japanese population
Junko H Ohyashiki, Masayuki Yoneta, Hisashi Hisatomi, Tamiko Iwabuchi, Tomohiro Umezu, Kazuma Ohyashiki
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
A genome wide association study of pulmonary tuberculosis susceptibility in Indonesians
Eileen Png, Bachti Alisjahbana, Edhyana Sahiratmadja, Sangkot Marzuki, Ron Nelwan, Yanina Balabanova, Vladyslav Nikolayevskyy, Francis Drobniewski, Sergey Nejentsev, Iskandar Adnan, Esther van de Vosse, Martin L Hibberd, Reinout van Crevel, Tom HM Ottenhoff, Mark Seielstad
Possible role of EMID2 on nasal polyps pathogenesis in Korean asthma patients
Charisse Flerida Arnejo 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
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
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
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
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 Nöthlings
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
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy
Marcella Neri, Emanuele Valli, Giovanna Alfano, Matteo Bovolenta, Pietro Spitali, Claudio Rapezzi, Francesco Muntoni, Sandro Banfi, Giovanni Perini, Francesca Gualandi, Alessandra Ferlini
MUC2polymorphisms are associated with endometriosis development and infertility: a case-control study
Cherry Yin-Yi Chang, Yi Chen, Wu-Chou Lin, Chih-Mei Chen, Chih-Ping Chen, Shan-Chih Lee, Jim Jinn-Chyuan Sheu, Fuu-Jen Tsai
The effect of FOXA2rs1209523 on glucose-related phenotypes and risk of type 2 diabetes in Danish individuals
Karina Banasik, Mette Hollensted, Ehm Andersson, Thomas Sparsø, Annelli Sandbæk, Torsten Lauritzen, Torben Jørgensen, Daniel R Witte, Oluf Pedersen, Torben Hansen
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
An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3
Ahmed Bouhouche, Ali Benomar, Leila Errguig, Lamiae Lachhab, Naima Bouslam, Jehanne Aasfara, Sanaa Sefiani, Layachi Chabraoui, Elmostafa El Fahime, Abdeljalil El Quessar, Mohamed Jiddane, Mohamed Yahyaoui
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 Jr, Shailendra B Patel, Theodore A Kotchen
Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy
Revathi Rajkumar, John C Sembrat, Barbara McDonough, Christine E Seidman, Ferhaan Ahmad
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
Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity
Johanna Korvala, Harald Jüppner, Outi Mäkitie, Etienne Sochett, Dirk Schnabel, Stefano Mora, Cynthia F Bartels, Matthew L Warman, Donald Deraska, William G Cole, Heini Hartikka, Leena Ala-Kokko, Minna Männikkö
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 Battista Rossi, Paola Izzo, Marina De Rosa
Data mining of high density genomic variant data for prediction of Alzheimer's disease risk
Natalia Briones, Valentin Dinu
High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort
Susana Santos, Vanda Marques, Marina Pires, Leonor Silveira, Helena Oliveira, Vasco Lança, Dulce Brito, Hugo Madeira, J Fonseca Esteves, António Freitas, Isabel M Carreira, Isabel M Gaspar, Carolino Monteiro, Alexandra R Fernandes
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
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 Haunsø, Jesper H Svendsen, Nicole Schmitt
Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL3
Madhushika Ratnayake, Louise N Reynard, Emma VA Raine, Mauro Santibanez-Koref, John Loughlin
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
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
No Association of nineteen COX-2 gene variants to preclinical markers of atherosclerosis The Cardiovascular Risk in Young Finns Study
Kati Lähteelä, Tarja Kunnas, Leo-Pekka Lyytikäinen, Nina Mononen, Leena Taittonen, Tomi Laitinen, Johannes Kettunen, Markus Juonala, Nina Hutri-Kähönen, Mika Kähönen, Jorma S Viikari, Olli T Raitakari, Terho Lehtimäki, Seppo T Nikkari
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
No association for Chinese HBV-related hepatocellular carcinoma susceptibility SNP in other East Asian populations
Hiromi Sawai, Nao Nishida, Hamdi Mbarek, Koichi Matsuda, Yoriko Mawatari, Megumi Yamaoka, Shuhei Hige, Jong-Hon Kang, Koichi Abe, Satoshi Mochida, Masaaki Watanabe, Masayuki Kurosaki, Yasuhiro Asahina, Namiki Izumi, Masao Honda, Shuichi Kaneko, Eiji Tanaka, Kentaro Matsuura, Yoshito Itoh, Eiji Mita, Masaaki Korenaga, Keisuke Hino, Yoshikazu Murawaki, Yoichi Hiasa, Tatsuya Ide, Kiyoaki Ito, Masaya Sugiyama, Sang Hoon Ahn, Kwang-Hyub Han, Jun Yong Park, Man-Fung Yuen, Yusuke Nakamura, Yasuhito Tanaka, Masashi Mizokami, Katsushi Tokunaga
BRCA2 Variants and cardiovascular disease in a multi-ethnic study
Kevin Zbuk, Changchun Xie, Robin Young, Mahyar Heydarpour, Guillaume Pare, A Darlene Davis, Ruby Miller, Matthew B Lanktree, Danish Saleheen, John Danesh, Salim Yusuf, James C Engert, Robert A Hegele, Sonia S Anand
Estrogen receptor alpha gene polymorphisms and risk of HBV-related acute liver failure in the Chinese population
Zehui Yan, Wenting Tan, Yunjie Dan, Wenli Zhao, Chunqing Deng, Yuming Wang, Guohong Deng
Genetic polymorphisms located in genes related to immune and inflammatory processes are associated with end-stage renal disease: a preliminary study
Ma Angeles Jimenez-Sousa, Elisabeth López, Amanda Fernandez-Rodríguez, Eduardo Tamayo, Pablo Fernández-Navarro, Laura Segura-Roda, María Heredia, José I Gómez-Herreras, Jesús Bustamante, Juan Miguel García-Gómez, Jesús F Bermejo-Martin, Salvador Resino
Association between polymorphisms in the adiponectin gene and cardiovascular disease: a meta-analysis
Huan Zhang, Xingbo Mo, Yongchen Hao, Dongfeng Gu
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
Polymorphisms in the mitochondrial oxidative phosphorylation chain genes as prognostic markers for colorectal cancer
Jesus Lascorz, Melanie Bevier, Witigo V Schönfels, Holger Kalthoff, Heiko Aselmann, Jan Beckmann, Jan Egberts, Stephan Buch, Thomas Becker, Stefan Schreiber, Jochen Hampe, Kari Hemminki, Asta Försti, Clemens Schafmayer
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
Genetic analysis of polymorphisms in the kalirin gene for association with age-at-onset in European Huntington disease patients
Yu-Chun Tsai, Silke Metzger, Olaf Riess, Anne S Soehn, Huu Phuc Nguyen
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1mutation
John F Staropoli, Winnie Xin, Rosemary Barone, Susan L Cotman, Katherine B Sims
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, Philipp Zanger, Jürgen FJ Kun, Peter G Kremsner, Thirumalaisamy P Velavan
Circulating leukocyte telomere length is highly heritable among families of Arab descent
Omar S Al-Attas, Nasser M Al-Daghri, Majed S Alokail, Khalid M Alkharfy, Assim A Alfadda, Philip McTernan, Greg C Gibson, Shaun B Sabico, George P Chrousos
Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual
Jolanta Wierzba, María Concepción Gil-Rodríguez, Anna Polucha, Beatriz Puisac, María Arnedo, María Esperanza Teresa-Rodrigo, Dorota Winnicka, Fausto G Hegardt, Feliciano J Ramos, Janusz Limon, Juan Pié
Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux
Saadullah Khan, Raja Hussain Ali, Sanaullah Abbasi, Muhammad Nawaz, Noor Muhammad, Wasim Ahmad
Association of cytochrome P450 genetic polymorphisms with neoadjuvant chemotherapy efficacy in breast cancer patients
Tatyana A Seredina, Olga B Goreva, Valeria O Talaban, Alevtina Yu Grishanova, Vyacheslav V Lyakhovich
Identification of 3 novel VHL germ-line mutations in Danish VHL patients
Mette Dandanell, Lennart Friis-Hansen, Lone Sunde, Finn C Nielsen, Thomas v O Hansen
A novel SYBR-based duplex qPCR for the detection of gene dosage: detection of an APC large deletion in a familial adenomatous polyposis patient with an unusual phenotype
Giovana Tardin Torrezan, Felipe Cavalcanti Carneiro da Silva, Ana Cristina Victorino Krepischi, Érika Maria Monteiro dos Santos, Benedito Mauro Rossi, Dirce Maria Carraro
The Renalase Asp37Glu polymorphism is not associated with hypertension and cardiovascular events in an urban-based prospective cohort: the Malmö Diet and cancer study
Cristiano Fava, Martina Montagnana, Elisa Danese, Marketa Sjögren, Peter Almgren, Gunnar Engström, Bo Hedblad, Gian Cesare Guidi, Pietro Minuz, Olle Melander
Influence of IL17A polymorphisms on the aberrant methylation of DAPK and CDH1 in non-cancerous gastric mucosa
Tomiyasu Arisawa, Tomomitsu Tahara, Mikihiro Tsutsumi, Tomoyuki Shibata
Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects
Faith Pangilinan, Anne M Molloy, James L Mills, James F Troendle, Anne Parle-McDermott, Caroline Signore, Valerie B O’Leary, Peter Chines, Jessica M Seay, Kerry Geiler-Samerotte, Adam Mitchell, Julia E VanderMeer, Kristine M Krebs, Angelica Sanchez, Joshua Cornman-Homonoff, Nicole Stone, Mary Conley, Peadar N Kirke, Barry Shane, John M Scott, Lawrence C Brody
Methylenetetrahydrofolate reductase C677T polymorphism is associated with estimated glomerular filtration rate in hypertensive Chinese males
Qing Dong, Genfu Tang, Mingli He, Yunqing Cai, Yefeng Cai, Houxun Xing, Liming Sun, Jianping Li, Yan Zhang, Fangfang Fan, Binyan Wang, Ningling Sun, Lisheng Liu, Xiping Xu, Fanfan Hou, Hongbing Shen, Xin Xu, Yong Huo
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
IGF2/H19 hypomethylation in a patient with very low birthweight, preocious pubarche and insulin resistance
Rinki Murphy, Lourdes Ibáñez, Andrew Hattersley, Jörg Tost
Toll-like receptor gene polymorphisms are associated with allergic rhinitis: a case control study
Daniel Nilsson, Anand Kumar Andiappan, Christer Halldén, Wang De Yun, Torbjörn Säll, Chew Fook Tim, Lars-Olaf Cardell
Molecular diagnosis of putative Stargardt disease probands by exome sequencing
Samuel P Strom, Yong-Qing Gao, Ariadna Martinez, Carolina Ortube, Zugen Chen, Stanley F Nelson, Steven Nusinowitz, Deborah B Farber, Michael B Gorin
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype
Simona Brioschi, Francesca Gualandi, Chiara Scotton, Annarita Armaroli, Matteo Bovolenta, Maria S Falzarano, Patrizia Sabatelli, Rita Selvatici, Adele D’Amico, Marika Pane, Giulia Ricci, Gabriele Siciliano, Silvana Tedeschi, Antonella Pini, Liliana Vercelli, Domenico De Grandis, Eugenio Mercuri, Enrico Bertini, Luciano Merlini, Tiziana Mongini, Alessandra Ferlini
Association between insertion/deletion polymorphism in angiotensin-converting enzyme gene and acute lung injury/acute respiratory distress syndrome: a meta-analysis
Akihisa Matsuda, Taro Kishi, Asha Jacob, Monowar Aziz, Ping Wang
Methylenetetrahydrofolate Reductase Polymorphisms and Risk of Acute Lymphoblastic Leukemia-Evidence from an updated meta-analysis including 35 studies
Haigang Wang, Jiali Wang, Lixia Zhao, Xinchun Liu, Wenjie Mi
Single nucleotide polymorphisms in thymic stromal lymphopoietin gene are not associated with allergic rhinitis susceptibility in Chinese subjects
Yuan Zhang, Xiaohong Song, Yanming Zhao, Luo Zhang, Claus Bachert
The MAP2K5-linked SNP rs2241423 is associated with BMI and obesity in two cohorts of Swedish and Greek children
Mathias Rask-Andersen, Josefin A Jacobsson, George Moschonis, Anna E Ek, George P Chrousos, Claude Marcus, Yannis Manios, Robert Fredriksson, Helgi B Schiöth
Deletion of a single-copy DAAM1 gene in congenital heart defect: a case report
Bihui Bao, Liang Zhang, Hua Hu, Shuxin Yin, Zhiqing Liang
Genetic variants associated with breast size also influence breast cancer risk
Nicholas Eriksson, Geoffrey M Benton, Chuong B Do, Amy K Kiefer, Joanna L Mountain, David A Hinds, Uta Francke, Joyce Y Tung
A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population
Sebastien Levesque, Charles Morin, Simon-Pierre Guay, Josee Villeneuve, Pascale Marquis, Wing Yan Yik, Sarn Jiralerspong, Luigi Bouchard, Steven Steinberg, Joseph G Hacia, Ken Dewar, Nancy E Braverman
MC1R variants predisposing to concomitant primary cutaneous melanoma in a monozygotic twin pair
Cristina Pellegrini, Maria Concetta Fargnoli, Mariano Suppa, Ketty Peris
Investigating the relationship between UMODL1 gene polymorphisms and high myopia: a case–control study in Chinese
Miao-miao Zhu, Maurice KH Yap, Daniel WH Ho, Wai Yan Fung, Po Wah Ng, Yang-shun Gu, Shea Ping Yip
CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain
Hiart Maortua, Cristina Martínez-Bouzas, María-Teresa Calvo, Maria-Rosario Domingo, Feliciano Ramos, Ainhoa García-Ribes, María-Jesús Martínez, María-Asunción López-Aríztegui, Nerea Puente, Izaskun Rubio, María-Isabel Tejada
Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants
Bert Nagel, Ursula Gruber-Sedlmayr, Sabine Uhrig, Claudia Stöllberger, Eva Klopocki, Josef Finsterer
Polymorphisms in the genes coding for iron binding and transporting proteins are associated with disability, severity, and early progression in multiple sclerosis
Donato Gemmati, Giulia Zeri, Elisa Orioli, Francesca E De Gaetano, Fabrizio Salvi, Ilaria Bartolomei, Sandra D’Alfonso, Claudia Dall’Osso, Maurizio A Leone, Ajay V Singh, Rosanna Asselta, Paolo Zamboni
Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families
Joan E Bailey-Wilson, Erica J Childs, Cheryl D Cropp, Daniel J Schaid, Jianfeng Xu, Nicola J Camp, Lisa A Cannon-Albright, James M Farnham, Asha George, Isaac Powell, John D Carpten, Graham G Giles, John L Hopper, Gianluca Severi, Dallas R English, William D Foulkes, Lovise Mæhle, Pål Møller, Rosalind Eeles, Douglas Easton, Michelle Guy, Steve Edwards, Michael D Badzioch, Alice S Whittemore, Ingrid Oakley-Girvan, Chih-Lin Hsieh, Latchezar Dimitrov, Janet L Stanford, Danielle M Karyadi, Kerry Deutsch, Laura McIntosh, Elaine A Ostrander, Kathleen E Wiley, Sarah D Isaacs, Patrick C Walsh, Stephen N Thibodeau, Shannon K McDonnell, Scott Hebbring, Ethan M Lange, Kathleen A Cooney, Teuvo LJ Tammela, Johanna Schleutker, Christiane Maier, Sylvia Bochum, Josef Hoegel, Henrik Grönberg, Fredrik Wiklund, Monica Emanuelsson, Geraldine Cancel-Tassin, Antoine Valeri, Olivier Cussenot, William B Isaacs
Association of ALOX5APgene single nucleotide polymorphisms and cerebral infarction in the Han population of northern China
Shuang-yan Zhang, Mei-ling Xu, Cui-e Zhang, Zheng-yi Qu, Bin-bin Zhang, Zu-yan Zheng, Li-ming Zhang
UMOD as a susceptibility gene for end-stage renal disease
Anna Reznichenko, Carsten A Böger, Harold Snieder, Jacob van den Born, Martin H de Borst, Jeffrey Damman, Marcory CRF van Dijk, Harry van Goor, Bouke G Hepkema, Jan-Luuk Hillebrands, Henri GD Leuvenink, Jan Niesing, Stephan JL Bakker, Marc Seelen, Gerjan Navis
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion
Bassam R Ali, Jennifer L Silhavy, Matthew J Gleeson, Joseph G Gleeson, Lihadh Al-Gazali
PNPLA 3I148M genetic variant associates with insulin resistance and baseline viral load in HCV genotype 2 but not in genotype 3 infection
Karolina Rembeck, Cristina Maglio, Martin Lagging, Peer Brehm Christensen, Martti Färkkilä, Nina Langeland, Mads Rauning Buhl, Court Pedersen, Kristine Mørch, Gunnar Norkrans, Kristoffer Hellstrand, Magnus Lindh, Carlo Pirazzi, Maria Antonella Burza, Stefano Romeo, Johan Westin
Quantitative global and gene-specific promoter methylation in relation to biological properties of neuroblastomas
Nimrod B Kiss, Per Kogner, John Inge Johnsen, Tommy Martinsson, Catharina Larsson, Janos Geli
Patient accounts of diagnostic testing for familial hypercholesterolaemia: comparing responses to genetic and non-genetic testing methods
Gareth J Hollands, David Armstrong, Angela Macfarlane, Martin A Crook, Theresa M Marteau
T−786→C polymorphism of the endothelial nitric oxide synthase gene is associated with insulin resistance in patients with ischemic or non ischemic cardiomyopathy
Cecilia Vecoli, Maria Grazia Andreassi, Riccardo Liga, Maria Giovanna Colombo, Michele Coceani, Clara Carpeggiani, Antonio L’Abbate, Danilo Neglia
Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAEgenes in a family with developmental delay and behavioural problems
Valeria Capra, Marisol Mirabelli-Badenier, Michela Stagnaro, Andrea Rossi, Elisa Tassano, Stefania Gimelli, Giorgio Gimelli
Association of a bitter taste receptor mutation with Balkan Endemic Nephropathy (BEN)
Stephen P Wooding, Srebrena Atanasova, Howard C Gunn, Rada Staneva, Invanka Dimova, Draga Toncheva
TGFB1 genetic polymorphisms and coronary heart disease risk: a meta-analysis
Yingchang Lu, Jolanda MA Boer, Roza M Barsova, Olga Favorova, Anuj Goel, Michael Müller, Edith JM Feskens
Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1microdeletions
Tanja Mußotter, Lan Kluwe, Josef Högel, Rosa Nguyen, David N Cooper, Victor-Felix Mautner, Hildegard Kehrer-Sawatzki
Peripheral PDLIM5 expression in bipolar disorder and the effect of olanzapine administration
Mohd Aizat Zain, Suffee Nusrat Jahan, Gavin P Reynolds, Nor Zuraida Zainal, Sharmilla Kanagasundram, Zahurin Mohamed
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
A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections
Xiu Xu, Qiong Xu, Ying Zhang, Xiaodi Zhang, Tianlin Cheng, Bingbing Wu, Yanhua Ding, Ping Lu, Jingjing Zheng, Min Zhang, Zilong Qiu, Xiang Yu
Dominant optic atrophy in Denmark – report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%
Gitte J Almind, Jakob Ek, Thomas Rosenberg, Hans Eiberg, Michael Larsen, LuCamp LuCamp, Karen Brøndum-Nielsen, Karen Grønskov
Low prevalence of connexin-40 gene variants in atrial tissues and blood from atrial fibrillation subjects
Gregory D Tchou, Robert C Wirka, David R Van Wagoner, John Barnard, Mina K Chung, Jonathan D Smith
A novel multiplex PCR-RFLP method for simultaneous detection of the MTHFR 677 C > T, eNOS +894 G > T and - eNOS -786 T > C variants among Malaysian Malays
Keat Wei Loo, Lyn Robyn Griffiths, Siew Hua Gan
Relationships between the ABO blood group SNP rs505922 and breast cancer phenotypes: a genotype-phenotype correlation study
Seth Rummel, Craig D Shriver, Rachel E Ellsworth
SNP-set analysis replicates acute lung injury genetic risk factors
Nuala J Meyer, Zhongyin John Daye, Melanie Rushefski, Richard Aplenc, Paul N Lanken, Michael GS Shashaty, Jason D Christie, Rui Feng
Beckwith Wiedemann imprinting defect found in leucocyte but not buccal DNA in a child born small for gestational age
Rinki Murphy, Deborah Mackay, Ed A Mitchell
High-resolution SNP array analysis of patients with developmental disorder and normal array CGH results
Linda Siggberg, Ala-Mello Sirpa, Linnankivi Tarja, Avela Kristiina, Scheinin Ilari, Kristiansson Kati, Lahermo Päivi, Hietala Marja, Metsähonkala Liisa, Kuusinen Esa, Laaksonen Maarit, Saarela Janna, Knuutila Sakari
The identification of a spontaneous 47, XX, +21/46, XY chimeric fetus with male genitalia
Kuei-Fang Lee, Chun-Shuo Hsu, Pao-Lin Kuo, Jing-Liang Chen, Yuan-Hong Jiang, Ingrid Y Liu
Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7
Qu Yu-jin, Du Juan, Li Er-zhen, Bai Jin-li, Jin Yu-wei, Wang Hong, Song Fang
Shared ancestral susceptibility to colorectal cancer and other nutrition related diseases
Stefanie Huhn, Melanie Bevier, Anja Rudolph, Barbara Pardini, Alessio Naccarati, Rebecca Hein, Michael Hoffmeister, Ludmila Vodickova, Jan Novotny, Hermann Brenner, Jenny Chang-Claude, Kari Hemminki, Pavel Vodicka, Asta Försti
Association of soluble endothelial protein C receptor plasma levels and PROCR rs867186 with cardiovascular risk factors and cardiovascular events in coronary artery disease patients: The Athero Gene Study
Choumous Kallel, William Cohen, Noémie Saut, Stefan Blankenberg, Renate Schnabel, Hans J Rupprecht, Christoph Bickel, Thomas Munzel, David-Alexandre Tregouet, Pierre-Emmanuel Morange
APOA5 Q97X Mutation Identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family
Catalina Dussaillant, Valentina Serrano, Alberto Maiz, Susana Eyheramendy, Luis Rodrigo Cataldo, Matías Chavez, Susan V Smalley, Marcela Fuentes, Attilio Rigotti, Lorena Rubio, Carlos F Lagos, José Alfredo Martinez, José Luis Santos
Association of IL-18 polymorphisms with rheumatoid arthritis and systemic lupus erythematosus in Asian populations: a meta-analysis
Shuilian Chen, Feng Jiang, Jiangping Ren, Jiajing Liu, Wei Meng
Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype
Bridget A Fernandez, Jane S Green, Ford Bursey, Brendan Barrett, Andrée MacMillan, Sarah McColl, Sara Fernandez, Proton Rahman, Krista Mahoney, Sergio L Pereira, Stephen W Scherer, Kym M Boycott, Michael O Woods
PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients
Marelize Swart, Heather Whitehorn, Yuan Ren, Peter Smith, Rajkumar S Ramesar, Collet Dandara
Genetic variant I148M in PNPLA3 is associated with the ultrasonography-determined steatosis degree in a Chinese population
Yiling Li, Chao Xing, Zhong Tian, Hung-Chih Ku
The contribution of FTO and UCP-1SNPs to extreme obesity, diabetes and cardiovascular risk in Brazilian individuals
Adauto V Ramos, Luciana Bastos-Rodrigues, Bruna A Resende, Eitan Friedman, Luciana Campanha-Versiani, Debora M Miranda, Marta Sarquis, Luiz De Marco
MAOA promoter methylation and susceptibility to carotid atherosclerosis: role of familial factors in a monozygotic twin sample
Jinying Zhao, Christopher W Forsberg, Jack Goldberg, Nicholas L Smith, Viola Vaccarino
Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure
Charlotte L Bendon, Aimée L Fenwick, Jane A Hurst, Gudrun Nürnberg, Peter Nürnberg, Steven A Wall, Andrew OM Wilkie, David Johnson
Association of SELE genotypes/haplotypes with sE-selectin levels in Taiwanese individuals: interactive effect of MMP9 level
Semon Wu, Lung-An Hsu, Ming-Sheng Teng, Jeng-Feng Lin, Hsien-Hsun Chang, Yu-Chen Sun, Hsuan-Pu Chen, Yu-Lin Ko
Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I)
Tahir Naeem Khan, Joakim Klar, Sadia Nawaz, Muhammad Jameel, Muhammad Tariq, Naveed Altaf Malik, Shahid M Baig, Niklas Dahl
Cross-pollination of research findings, although uncommon, may accelerate discovery of human disease genes
Marlena Duda, Tristan Nelson, Dennis P Wall
High prevalence of Arginine to Glutamine Substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians
Deepa Selvi Rani, Pratibha Nallari, Singh Priyamvada, Calambur Narasimhan, Lalji Singh, Kumarasamy Thangaraj
SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype
Remko Hersmus, Hans Stoop, Erin Turbitt, J Wolter Oosterhuis, Stenvert LS Drop, Andrew H Sinclair, Stefan J White, Leendert HJ Looijenga
1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes
Greice Andreotti De Molfetta, Cristiane Ayres Ferreira, Daniel Onofre Vidal, Liane de Rosso Giuliani, Maria José Maldonado, Wilson Araujo Silva Jr
Genotype-phenotype correlation in 22q11.2 deletion syndrome
Elena Michaelovsky, Amos Frisch, Miri Carmel, Miriam Patya, Omer Zarchi, Tamar Green, Lina Basel-Vanagaite, Abraham Weizman, Doron Gothelf
A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death
Carolien H Teirlinck, Faïza Senni, Rajae El Malti, Danielle Majoor-Krakauer, Florence Fellmann, Gilles Millat, Xavier André-Fouët, François Pernot, Michaël Stumpf, Jean Boutarin, Patrice Bouvagnet
Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder
Sean D Hooper, Anna CV Johansson, Christian Tellgren-Roth, Eva-Lena Stattin, Niklas Dahl, Lucia Cavelier, Lars Feuk
Phosphodiesterase 8B gene polymorphism in women with recurrent miscarriage: A retrospective case control study
Michaela Granfors, Helena Karypidis, Frida Hosseini, Lottie Skjöldebrand-Sparre, Anneli Stavreus-Evers, Katarina Bremme, Britth-Marie Landgren, Inger Sundström-Poromaa, Anna-Karin Wikström, Helena Åkerud
Association between XRCC1polymorphism 399 G->A and glioma among Caucasians: a systematic review and meta-analysis
Daniel I Jacobs, Michael B Bracken
The CAG repeat polymorphism in the Androgen receptor gene modifies the risk for hypospadias in Caucasians
Tatjana Adamovic, Agneta Nordenskjöld
Whole-exome sequencing of a pedigree segregating asthma
Andrew T DeWan, Kathryn Brigham Egan, Karen Hellenbrand, Keli Sorrentino, Nicole Pizzoferrato, Kyle M Walsh, Michael B Bracken
Evaluation of single nucleotide polymorphisms in microRNAs (hsa-miR-196a2 rs11614913 C/T) from Brazilian women with breast cancer
José Juvenal Linhares, Marcos Azevedo Jr, Adalberto Abraão Siufi, Cristina Valleta de Carvalho, Maria Del Carmen Garcia Molina Wolgien, Emmanuelle Coelho Noronha, Tatiana Carvalho de Souza Bonetti, Ismael Dale Cotrim Guerreiro da Silva
In-vitro characterization of novel and functional regulatory SNPs in the promoter region of IL2 and IL2R alpha in a Gabonese population
Xiangsheng Huang, Vera Kühne, Jürgen F J Kun, Peter T Soboslay, Bertrand Lell, Velavan TP
Transferability and Fine Mapping of genome-wide associated loci for lipids in African Americans
Adebowale Adeyemo, Amy R Bentley, Katherine G Meilleur, Ayo P Doumatey, Guanjie Chen, Jie Zhou, Daniel Shriner, Hanxia Huang, Alan Herbert, Norman P Gerry, Michael F Christman, Charles N Rotimi
Prediction of lung cancer risk in a Chinese population using a multifactorial genetic model
Huan Li, Lixin Yang, Xueying Zhao, Jiucun Wang, Ji Qian, Hongyan Chen, Weiwei Fan, Hongcheng Liu, Li Jin, Weimin Wang, Daru Lu
A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype
Neil A Hanchard, Claudia MB Carvalho, Patricia Bader, Aaron Thome, Lisa Omo-Griffith, Daniela del Gaudio, Davut Pehlivan, Ping Fang, Christian P Schaaf, Melissa B Ramocki, James R Lupski, Sau Wai Cheung
Thymic stromal lymphopoietin gene promoter polymorphisms and expression levels in Graves’ disease and Graves’ ophthalmopathy
Kun-Hsi Tsai, Fuu-Jen Tsai, Hui-Ju Lin, Hung-Jung Lin, Yu-Huei Liu, Wen-Ling Liao, Lei Wan
Expression analyses of the genes harbored by the type 2 diabetes and pediatric BMI associated locus on 10q23
Jianhua Zhao, Sandra Deliard, Ali Rahim Aziz, Struan FA Grant
Leukotriene B4 receptor locus gene characterisation and association studies in asthma
Asif S Tulah, Bianca Beghé, Sheila J Barton, John W Holloway, Ian Sayers
Maternal and offspring fasting glucose and type 2 diabetes-associated genetic variants and cognitive function at age 8: a Mendelian randomization study in the Avon Longitudinal Study of Parents and Children
Carolina Bonilla, Debbie A Lawlor, Yoav Ben–Shlomo, Andrew R Ness, David Gunnell, Susan M Ring, George Davey Smith, Sarah J Lewis