Issue 1/2013
Content (129 Articles)
Contribution of the PALB2 c.2323C>T [p.Q775X] Founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent
Marc Tischkowitz, Nelly Sabbaghian, Nancy Hamel, Carly Pouchet, William D Foulkes, Anne-Marie Mes-Masson, Diane M Provencher, Patricia N Tonin
Family-based associations in measures of psychological distress and quality of life in a cardiac screening clinic for inheritable cardiac diseases: a cross-sectional study
Catherine McGorrian, Charlene McShane, Colin McQuade, Ted Keelan, Jim O Neill, Joseph Galvin, Kevin Malone, Niall G Mahon, Mary Codd
Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma
Gergely Losonczy, Ferenc Fazakas, György Pfliegler, István Komáromi, Erzsébet Balázs, Krisztina Pénzes, András Berta
Reduced genetic influence on childhood obesity in small for gestational age children
Dug Yeo Han, Rinki Murphy, Angharad R Morgan, Wen Jiun Lam, John M D Thompson, Clare R Wall, Karen E Waldie, Edwin A Mitchell, Lynnette R Ferguson
Assessment of the 9p21.3 locus in severity of coronary artery disease in the presence and absence of type 2 diabetes
Natalia V Rivera, Robert Carreras-Torres, Roberta Roncarati, Chiara Viviani-Anselmi, Francesca De Micco, Alessandra Mezzelani, Werner Koch, Petra Hoppmann, Adnan Kastrati, Alexandre FR Stewart, Li Chen, Robert Roberts, Lennart C Karssen, Najaf Amin, Valentina Trimarco, Raffaele Izzo, Guido Iaccarino, Gerolama Condorelli, Annibale A Puca, Paolo Pagnotta, Flavio Airoldi, Bruno Trimarco, Cornelia M van Duijn, Gianluigi Condorelli, Carlo Briguori
Association between paraoxonase gene and stroke in the Han Chinese population
Guojun Zhang, Wenjin Li, Zhiqiang Li, Hong Lv, Yonghong Ren, Ruimin Ma, Xiaohong Li, Xixiong Kang, Yongyong Shi, Yimin Sun
Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients
José G Romero-Quintana, Luis O Frías-Castro, Eliakym Arámbula-Meraz, Maribel Aguilar-Medina, Jesús E Dueñas-Arias, Jesús D Melchor-Soto, José G Romero-Navarro, Rosalío Ramos-Payán
Potential contribution of SIM2 and ETS2 functional polymorphisms in Down syndrome associated malignancies
Arpita Chatterjee, Samikshan Dutta, Sanjit Mukherjee, Nupur Mukherjee, Avirup Dutta, Ashis Mukherjee, Swagata Sinha, Chinmay Kumar Panda, Keya Chaudhuri, Ananda L Roy, Kanchan Mukhopadhyay
Lack of association between a functional variant of the BRCA-1 related associated protein (BRAP) gene and ischemic stroke
Yi-Chu Liao, Hsiu-Fen Lin, Yuh-Cherng Guo, Chung-Hung Chen, Zhi-Zhang Huang, Suh-Hang Hank Juo, Ruey-Tay Lin
Effects of smoking on the genetic risk of obesity: the population architecture using genomics and epidemiology study
Megan D Fesinmeyer, Kari E North, Unhee Lim, Petra Bůžková, Dana C Crawford, Jeffrey Haessler, Myron D Gross, Jay H Fowke, Robert Goodloe, Shelley-Ann Love, Misa Graff, Christopher S Carlson, Lewis H Kuller, Tara C Matise, Ching-Ping Hong, Brian E Henderson, Melissa Allen, Rebecca R Rohde, Ping Mayo, Nathalie Schnetz-Boutaud, Kristine R Monroe, Marylyn D Ritchie, Ross L Prentice, Lawrence N Kolonel, JoAnn E Manson, James Pankow, Lucia A Hindorff, Nora Franceschini, Lynne R Wilkens, Christopher A Haiman, Loic Le Marchand, Ulrike Peters
Microsomal triglyceride transfer protein -164 T > C gene polymorphism and risk of cardiovascular disease: results from the EPIC-Potsdam case-cohort study
Romina di Giuseppe, Sonali Pechlivanis, Eva Fisher, Maria Arregui, Beate Weikert, Sven Knüppel, Brian Buijsse, Andreas Fritsche, Stefan N Willich, Hans-Georg Joost, Heiner Boeing, Susanne Moebus, Cornelia Weikert
Mitochondrial DNA haplogroups confer differences in risk for age-related macular degeneration: a case control study
M Cristina Kenney, Dieter Hertzog, Garrick Chak, Shari R Atilano, Nikan Khatibi, Kyaw Soe, Andrew Nobe, Elizabeth Yang, Marilyn Chwa, Feilin Zhu, Masood Memarzadeh, Jacqueline King, Jonathan Langberg, Kent Small, Anthony B Nesburn, David S Boyer, Nitin Udar
Meta-analysis of associations between TCF7L2 polymorphisms and risk of type 2 diabetes mellitus in the Chinese population
Jinjin Wang, Fulan Hu, Tianping Feng, Jingzhi Zhao, Lei Yin, Linlin Li, Yan Wang, Qian Wang, Dongsheng Hu
Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests
Li-Yun Wang, Nien-I Chen, Pin-Wen Chen, Shu-Chuan Chiang, Wuh-Liang Hwu, Ni-Chung Lee, Yin-Hsiu Chien
Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3
Aleksander Jamsheer, Anna Sowińska, Dorota Simon, Małgorzata Jamsheer-Bratkowska, Tomasz Trzeciak, Anna Latos-Bieleńska
Analysis of the contribution of FTO, NPC1, ENPP1, NEGR1, GNPDA2 and MC4Rgenes to obesity in Mexican children
Aurora Mejía-Benítez, Miguel Klünder-Klünder, Loic Yengo, David Meyre, Celia Aradillas, Esperanza Cruz, Elva Pérez-Luque, Juan Manuel Malacara, Maria Eugenia Garay, Jesús Peralta-Romero, Samuel Flores-Huerta, Jaime García-Mena, Philippe Froguel, Miguel Cruz, Amélie Bonnefond
Study design of DIACORE (DIAbetes COhoRtE) – a cohort study of patients with diabetes mellitus type 2
Lena Dörhöfer, Alexander Lammert, Vera Krane, Mathias Gorski, Bernhard Banas, Christoph Wanner, Bernhard K Krämer, Iris M Heid, Carsten A Böger
The silence of MUC2 mRNA induced by promoter hypermethylation associated with HBV in Hepatocellular Carcinoma
Yang Ling, Jing Zhu, Lu Gao, Yongping Liu, Changtai Zhu, Rong Li, Lixin Wei, Changsong Zhang
Risk loci for coronary artery calcification replicated at 9p21 and 6q24 in the Heinz Nixdorf Recall Study
Sonali Pechlivanis, Thomas W Mühleisen, Stefan Möhlenkamp, Dirk Schadendorf, Raimund Erbel, Karl-Heinz Jöckel, Per Hoffmann, Markus M Nöthen, André Scherag, Susanne Moebus
A study of two Chinese patients with tetrasomy and pentasomy 15q11q13 including Prader-Willi/Angelman syndrome critical region present with developmental delays and mental impairment
Jing Yang, Yongchen Yang, Yi Huang, Yan Hu, Xi Chen, Hengjuan Sun, Zhibao Lv, Qian Cheng, Liming Bao
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia
Pierluigi Marzuillo, Anna Grandone, Ruggero Coppola, Domenico Cozzolino, Adalgisa Festa, Federica Messa, Caterina Luongo, Emanuele Miraglia del Giudice, Laura Perrone
A comprehensive investigation of variants in genes encoding adiponectin (ADIPOQ) and its receptors (ADIPOR1/R2), and their association with serum adiponectin, type 2 diabetes, insulin resistance and the metabolic syndrome
Kirsten E Peters, John Beilby, Gemma Cadby, Nicole M Warrington, David G Bruce, Wendy A Davis, Timothy ME Davis, Steven Wiltshire, Matthew Knuiman, Brendan M McQuillan, Lyle J Palmer, Peter L Thompson, Joseph Hung
Epistatic study reveals two genetic interactions in blood pressure regulation
Ndeye Coumba Ndiaye, El Shamieh Said, Maria G Stathopoulou, Gérard Siest, Michael Y Tsai, Sophie Visvikis-Siest
NQO1 C609T polymorphism and esophageal cancer risk: a HuGE review and meta-analysis
Hu Yanling, Zhang Yuhong, He Wenwu, Xian Lei, Chen Mingwu
Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1locus
Reid S Alisch, Tao Wang, Pankaj Chopra, Jeannie Visootsak, Karen N Conneely, Stephen T Warren
MLPA-based genotype–phenotype analysis in 1053 Chinese patients with DMD/BMD
Juan Yang, Shao Y Li, Ya Q Li, Ji Q Cao, Shan W Feng, Yan Y Wang, Yi X Zhan, Chang S Yu, Fei Chen, Jing Li, Xiao F Sun, Cheng Zhang
Genetic variants associated with circulating MMP1 levels near matrix metalloproteinase genes on chromosome 11q21-22 in Taiwanese: interaction with obesity
Hsuan-Li Huang, Semon Wu, Lung-An Hsu, Ming-Sheng Teng, Jeng-Feng Lin, Yu-Chen Sun, Yu-Lin Ko
Mutation spectrum in human colorectal cancers and potential functional relevance
Hongzhuan Yin, Yichao Liang, Zhaopeng Yan, Baolin Liu, Qi Su
Schizophrenia susceptibility and NMDA-receptor mediated signalling: an association study involving 32 tagSNPs of DAO, DAOA, PPP3CC, and DTNBP1genes
Emilio Sacchetti, Catia Scassellati, Alessandra Minelli, Paolo Valsecchi, Cristian Bonvicini, Patrizio Pasqualetti, Alessandro Galluzzo, Rosaria Pioli, Massimo Gennarelli
Introduction of the AmpliChip CYP450 Test to a South African cohort: a platform comparative prospective cohort study
Tyren M Dodgen, Warren E Hochfeld, Heidi Fickl, Sahle M Asfaha, Chrisna Durandt, Paul Rheeder, Britt I Drögemöller, Galen E B Wright, Louise Warnich, Christiaan DJ Labuschagne, Antoinette van Schalkwyk, Andrea Gaedigk, Michael S Pepper
A combined targeted mutation analysis of IRF6 gene would be useful in the first screening of oral facial clefts
Yah-Huei Wu-Chou, Lun-Jou Lo, Kuo-Ting Philip Chen, Chun-Shin Frank Chang, Yu-Ray Chen
A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis
Nicolas Greliche, Marine Germain, Jean-Charles Lambert, William Cohen, Marion Bertrand, Anne-Marie Dupuis, Luc Letenneur, Mark Lathrop, Philippe Amouyel, Pierre-Emmanuel Morange, David-Alexandre Trégouët
The CARD8 p.C10X mutation associates with a low anti-glycans antibody response in patients with Crohn’s disease
Francis Vasseur, Boualem Sendid, Franck Broly, Corinne Gower-Rousseau, Aurore Sarazin, Annie Standaert-Vitse, Jean-Frederic Colombel, Daniel Poulain, Thierry Jouault
Pedigree and genotyping quality analyses of over 10,000 DNA samples from the Generation Scotland: Scottish Family Health Study
Shona M Kerr, Archie Campbell, Lee Murphy, Caroline Hayward, Cathy Jackson, Louise V Wain, Martin D Tobin, Anna Dominiczak, Andrew Morris, Blair H Smith, David J Porteous
Genome-wide methylation profiling of the bronchial mucosa of asthmatics: relationship to atopy
Yoon-Jeong Kim, Sung-Woo Park, Tae-Hoon Kim, Jong-Sook Park, Hyun Sub Cheong, Hyoung Doo Shin, Choon-Sik Park
Association between UCP2A55V polymorphism and risk of cardiovascular events in patients with multi-vessel coronary arterial disease
Luciana Gioli-Pereira, Paulo CJL Santos, Luisa S Sugaya, Noely E Ferreira, José Eduardo Krieger, Alexandre C Pereira, Whady A Hueb
Parent of origin influences the cardiac expression of vascular endothelial growth factor (Vegfa)
Christine L Chiu, Chloe T Morgan, Samantha J Lupton, Joanne M Lind
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome
Cristina Gervasini, Chiara Picinelli, Jacopo Azzollini, Daniela Rusconi, Maura Masciadri, Anna Cereda, Cinzia Marzocchi, Giuseppe Zampino, Angelo Selicorni, Romano Tenconi, Silvia Russo, Lidia Larizza, Palma Finelli
Allele-specific polymerase chain reaction for the detection of Alzheimer’s disease-related single nucleotide polymorphisms
Mohd Nazif Darawi, Chin Ai-Vyrn, Kalavathy Ramasamy, Philip Poi Jun Hua, Tan Maw Pin, Shahrul Bahyah Kamaruzzaman, Abu Bakar Abdul Majeed
The associations between the polymorphisms in the CTLA-4gene and the risk of Graves’ disease in the Chinese population
Liang Du, Jiqiao Yang, Jichong Huang, Yaxian Ma, Haichuan Wang, Tianyuan Xiong, Zhangpeng Xiang, Yonggang Zhang, Jin Huang
Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2genes in familial cases of bicuspid aortic valve
Ilenia Foffa, Lamia Ait Alì, Paola Panesi, Massimiliano Mariani, Pierluigi Festa, Nicoletta Botto, Cecilia Vecoli, Maria Grazia Andreassi
Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation
Li Dai, Ying Deng, Nana Li, Liang Xie, Meng Mao, Jun Zhu
Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation
Lauren S Marshall, Julie Simon, Tim Wood, Mei Peng, Renius Owen, Gary S Feldman, Michael V Zaragoza
Serum 25-hydroxyvitamin D3 levels and vitamin D receptor variants in melanoma patients from the Mediterranean area of Barcelona
Zighereda Ogbah, Laura Visa, Celia Badenas, José Ríos, Joan Anton Puig-Butille, Nuria Bonifaci, Elisabet Guino, Josep Maria Augé, Isabel Kolm, Cristina Carrera, Miquel Ángel Pujana, Josep Malvehy, Susana Puig
Genetic variants of MARCO are associated with susceptibility to pulmonary tuberculosis in a Gambian population
Dawn ME Bowdish, Kaori Sakamoto, Nathan A Lack, Philip C Hill, Giorgio Sirugo, Melanie J Newport, Siamon Gordon, Adrian VS Hill, Fredrick O Vannberg
Deletions within COL11A1in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA)
Raymon Vijzelaar, Sarah Waller, Abdellatif Errami, Alan Donaldson, Teresa Lourenco, Marcia Rodrigues, Vivienne McConnell, Gregory Fincham, Martin Snead, Allan Richards
Investigating highly replicated asthma genes as candidate genes for allergic rhinitis
Anand Kumar Andiappan, Daniel Nilsson, Christer Halldén, Wang De Yun, Torbjörn Säll, Lars Olaf Cardell, Chew Fook Tim
The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia
Ana Carolina S Fonseca, Adriano Bonaldi, Débora R Bertola, Chong A Kim, Paulo A Otto, Angela M Vianna-Morgante
Evaluation of the IL2/IL21, IL2RA and IL2RB genetic variants influence on the endogenous non-anterior uveitis genetic predisposition
María Carmen Cénit, Ana Márquez, Miguel Cordero-Coma, Alejandro Fonollosa, Alfredo Adán, Agustín Martínez-Berriotxoa, Victor Llorenç, David Díaz Valle, Ricardo Blanco, Joaquín Cañal, Manuel Díaz-Llopis, José Luis García Serrano, Enrique de Ramón, María José del Rio, Marina Begoña Gorroño- Echebarría, José Manuel Martín-Villa, Norberto Ortego-Centeno, Javier Martín
Polymorphisms in FGF12, VCL, CX43 and VAX1in Brazilian patients with nonsyndromic cleft lip with or without cleft palate
Sibele Nascimento de Aquino, Ana Camila Messetti, Elizabete Bagordakis, Hercílio Martelli-Júnior, Mario Sergio Oliveira Swerts, Edgard Graner, Ricardo D Coletta
Association between a frequent variant of the FTO gene and anthropometric phenotypes in Brazilian children
Carmela Farias da Silva, Marília Remuzzi Zandoná, Márcia Regina Vitolo, Paula Dal Bó Campagnolo, Liane Nanci Rotta, Silvana Almeida, Vanessa Suñé Mattevi
Disruption of AP3B1by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2
Matthew L Jones, Sherina L Murden, Claire Brooks, Viv Maloney, Richard A Manning, Kimberly C Gilmour, Vandana Bharadwaj, Josu de la Fuente, Subarna Chakravorty, Andrew D Mumford
Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome
Akira Ganaha, Tadashi Kaname, Kumiko Yanagi, Kenji Naritomi, Tetsuya Tono, Shin-ichi Usami, Mikio Suzuki
LMNA mutations in Polish patients with dilated cardiomyopathy: prevalence, clinical characteristics, and in vitro studies
Michal Saj, Zofia T Bilinska, Agnieszka Tarnowska, Agnieszka Sioma, Pierrette Bolongo, Malgorzata Sobieszczanska-Malek, Ewa Michalak, Dorota Golen, Lukasz Mazurkiewicz, Lukasz Malek, Ewa Walczak, Anna Fidzianska, Jacek Grzybowski, Andrzej Przybylski, Tomasz Zielinski, Jerzy Korewicki, Frederique Tesson, Rafal Ploski
Risk interaction of obesity, insulin resistance and hormone-sensitive lipase promoter polymorphisms (LIPE-60 C > G) in the development of fatty liver
Pi-Jung Hsiao, Zhih-Cherg Chen, Wei-Wen Hung, Yi-Hsin Connie Yang, Mei-Yueh Lee, Jee-Fu Huang, Kung-Kai Kuo
The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age
Aihua Yin, Chang Liu, Yan Zhang, Jing Wu, Mingqin Mai, Hongke Ding, Jiexia Yang, Xiaozhuang Zhang
High Resolution Melting analysis as a rapid and efficient method of screening for small mutations in the STK11gene in patients with Peutz-Jeghers syndrome
Pawel Borun, Anna Bartkowiak, Tomasz Banasiewicz, Boguslaw Nedoszytko, Dorota Nowakowska, Mikolaj Teisseyre, Janusz Limon, Jan Lubinski, Lukasz Kubaszewski, Jaroslaw Walkowiak, Elzbieta Czkwianianc, Monika Siolek, Agnieszka Kedzia, Piotr Krokowicz, Wojciech Cichy, Andrzej Plawski
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: a case report
Elena Martoni, Stefania Petrini, Cecilia Trabanelli, Patrizia Sabatelli, Anna Urciuolo, Rita Selvatici, Adele D'Amico, Sofia Falzarano, Enrico Bertini, Paolo Bonaldo, Alessandra Ferlini, Francesca Gualandi
Genetic interaction of GSH metabolic pathway genes in cystic fibrosis
Fernando Augusto de Lima Marson, Carmen Sílvia Bertuzzo, Rodrigo Secolin, Antônio Fernando Ribeiro, José Dirceu Ribeiro
BRCA1/2 mutation screening in high-risk breast/ovarian cancer families and sporadic cancer patient surveilling for hidden high-risk families
Dace Berzina, Miki Nakazawa-Miklasevica, Jekaterina Zestkova, Karina Aksenoka, Arvids Irmejs, Andris Gardovskis, Dagnija Kalniete, Janis Gardovskis, Edvins Miklasevics
Cytokine gene polymorphisms and serum cytokine levels in patients with idiopathic pulmonary fibrosis
Esam H Alhamad, Joseph G Cal, Zahid Shakoor, Adel Almogren, Ahmad A AlBoukai
Interactive effect of STAT6 and IL13gene polymorphisms on eczema status: results from a longitudinal and a cross-sectional study
Ali H Ziyab, Gwyneth A Davies, Susan Ewart, Julian M Hopkin, Eric M Schauberger, Marsha Wills-Karp, John W Holloway, Syed Hasan Arshad, Hongmei Zhang, Wilfried Karmaus
Systematic identification of DNA variants associated with ultraviolet radiation using a novel Geographic-Wide Association Study (GeoWAS)
Irving Hsu, Rong Chen, Aditya Ramesh, Erik Corona, Hyunseok Peter Kang, David Ruau, Atul J Butte
Inherited KIF21A and PAX6 gene mutations in a boy with congenital Fibrosis of extraocular muscles and aniridia
Ming Ying, Ruifang Han, Peng Hao, Liming Wang, Ningdong Li
A genetic variant of the atrial natriuretic peptide gene is associated with left ventricular hypertrophy in a non-diabetic population – the Malmö preventive project study
Amra Jujić, Margret Leosdottir, Gerd Östling, Petri Gudmundsson, Peter M Nilsson, Olle Melander, Martin Magnusson
Contribution of SLC7A1 genetic variant to hypertension, the TAMRISK study
Kirsi Määttä, Tarja Kunnas, Seppo T Nikkari
Compound heterozygosity of predicted loss-of-function DESvariants in a family with recessive desminopathy
Heather M McLaughlin, Melissa A Kelly, Pamela P Hawley, Basil T Darras, Birgit Funke, Jonathan Picker
Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report
Mariana Moscovich, Mark S LeDoux, Jianfeng Xiao, Garrett L Rampon, Satya R Vemula, Ramon L Rodriguez, Kelly D Foote, Michael S Okun
Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families
Hae-Mi Woo, Hong-Joon Park, Jeong-In Baek, Mi-Hyun Park, Un-Kyung Kim, Borum Sagong, Soo Kyung Koo
Mitochondrial DNA variant m.15218A > G in Finnish epilepsy patients who have maternal relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus
Heidi K Soini, Jukka S Moilanen, Tiina Vilmi-Kerälä, Saara Finnilä, Kari Majamaa
The promoter of miR-663 is hypermethylated in Chinese pediatric acute myeloid leukemia (AML)
Tao Yan-Fang, Ni Jian, Lu Jun, Wang Na, Xiao Pei-Fang, Zhao Wen-Li, Wu Dong, Pang Li, Wang Jian, Feng Xing, Pan Jian
DNA methylation of the glucagon-like peptide 1 receptor (GLP1R) in human pancreatic islets
Elin Hall, Tasnim Dayeh, Clare L Kirkpatrick, Claes B Wollheim, Marloes Dekker Nitert, Charlotte Ling
Functional characterisation of human cells harbouring a novel t(2p;7p) translocation involving TNS3 and EXOC6Bgenes
Desiree Ludwig, Jessica Carter, James R Smith, Giuseppe Borsani, Sergio Barlati, Sassan Hafizi
Lack of association between Fas rs180082polymorphism and risk of cervical cancer: an update by meta-analysis
Xu Chen, Wuning Mo, Qiliu Peng, Xiandu Su
Genetics of coronary artery calcification among African Americans, a meta-analysis
Mary K Wojczynski, Mingyao Li, Lawrence F Bielak, Kathleen F Kerr, Alex P Reiner, Nathan D Wong, Lisa R Yanek, Liming Qu, Charles C White, Leslie A Lange, Jane F Ferguson, Jing He, Taylor Young, Thomas H Mosley, Jennifer A Smith, Brian G Kral, Xiuqing Guo, Quenna Wong, Santhi K Ganesh, Susan R Heckbert, Michael E Griswold, Daniel H O’Leary, Matthew Budoff, J Jeffrey Carr, Herman A Taylor, Jr., David A Bluemke, Serkalem Demissie, Shih-Jen Hwang, Dina N Paltoo, Joseph F Polak, Bruce M Psaty, Diane M Becker, Michael A Province, Wendy S Post, Christopher J O’Donnell, James G Wilson, Tamara B Harris, Maryam Kavousi, L Adrienne Cupples, Jerome I Rotter, Myriam Fornage, Lewis C Becker, Patricia A Peyser, Ingrid B Borecki, Muredach P Reilly
Sequence variants in oxytocin pathway genes and preterm birth: a candidate gene association study
Jinsil Kim, Kara J Stirling, Margaret E Cooper, Mario Ascoli, Allison M Momany, Erin L McDonald, Kelli K Ryckman, Lindsey Rhea, Kendra L Schaa, Viviana Cosentino, Enrique Gadow, Cesar Saleme, Min Shi, Mikko Hallman, Jevon Plunkett, Kari A Teramo, Louis J Muglia, Bjarke Feenstra, Frank Geller, Heather A Boyd, Mads Melbye, Mary L Marazita, John M Dagle, Jeffrey C Murray
Associations between serotonin transporter gene polymorphisms and heat pain perception in adults with chronic pain
W Michael Hooten, William R Hartman, John Logan Black III, Heidi J Laures, Denise L Walker
Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome
Ambroise Wonkam, Jean Jacques N Noubiap, Jason Bosch, Collet Dandara, Geneviève Bengono Toure
MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting
Valentina Gatta, Elena Gennaro, Sara Franchi, Massimiliano Cecconi, Ivana Antonucci, Marco Tommasi, Giandomenico Palka, Domenico Coviello, Liborio Stuppia, Marina Grasso
Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families
Maria Haanpää, Katri Pylkäs, Jukka S Moilanen, Robert Winqvist
Development and validation of a multiplex-PCR assay for X-linked intellectual disability
Paula Jorge, Bárbara Oliveira, Isabel Marques, Rosário Santos
Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology
William J Craigen, Brett H Graham, Lee-Jun Wong, Fernando Scaglia, Richard Alan Lewis, Penelope E Bonnen
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts
Priya Landa, Ann-Marie Differ, Kaukab Rajput, Lucy Jenkins, Maria Bitner-Glindzicz
DNA methylation within the I.4 promoter region correlates with CYPl19A1 gene expression in human ex vivo mature omental and subcutaneous adipocytes
Joshua R Lewis, Tegan J McNab, Lawrence J Liew, Jeremy Tan, Phillip Hudson, Jenny Z Wang, Richard L Prince
Incidence of hereditary amyloidosis and autoinflammatory diseases in Sweden: endemic and imported diseases
Kari Hemminki, Xinjun Li, Asta Försti, Jan Sundquist, Kristina Sundquist
Splice site SNPs of phospholipase PLCXD3 are significantly associated with variant and sporadic Creutzfeldt-Jakob disease
Matthew T Bishop, Pascual Sanchez-Juan, Richard SG Knight
A catalase promoter variant rs1001179 is associated with visual acuity but not with primary angle closure glaucoma in Saudi patients
Khaled K Abu-Amero, Taif Anwar Azad, Ahmed Mousa, Essam A Osman, Tahira Sultan, Saleh A Al-Obeidan
Re-sequencing of the APOAI promoter region and the genetic association of the -75G > A polymorphism with increased cholesterol and low density lipoprotein levels among a sample of the Kuwaiti population
Suzanne A Al-Bustan, Ahmad E Al-Serri, Babitha G Annice, Majed A Alnaqeeb, Ghada A Ebrahim
Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for “double trouble” overlapping syndromes
Olivia Schreiber, Peter Schneiderat, Wolfram Kress, Bernd Rautenstrauss, Jan Senderek, Benedikt Schoser, Maggie C Walter
Evaluation of DNA damage in COPD patients and its correlation with polymorphisms in repair genes
Andréa Lúcia Gonçalves da Silva, Helen Tais da Rosa, Thaís Evelyn Karnopp, Clara Forrer Charlier, Joel Henrique Ellwanger, Dinara Jaqueline Moura, Lia Gonçalves Possuelo, Andréia Rosane de Moura Valim, Temenouga Nikolova Guecheva, João Antonio Pêgas Henriques
The TCF7L2 rs7903146 (T) allele is associated with type 2 diabetes in urban Ghana: a hospital-based case–control study
Ina Danquah, Till Othmer, Laura K Frank, George Bedu-Addo, Matthias B Schulze, Frank P Mockenhaupt
Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies
Rune Østern, Toril Fagerheim, Helene Hjellnes, Bjørn Nygård, Svein I Mellgren, Øivind Nilssen
ITGB5 and AGFG1 variants are associated with severity of airway responsiveness
Blanca E Himes, Weiliang Qiu, Barbara Klanderman, John Ziniti, Jody Senter-Sylvia, Stanley J Szefler, Robert F Lemanske, Jr, Robert S Zeiger, Robert C Strunk, Fernando D Martinez, Homer Boushey, Vernon M Chinchilli, Elliot Israel, David Mauger, Gerard H Koppelman, Maartje AE Nieuwenhuis, Dirkje S Postma, Judith M Vonk, Nicholas Rafaels, Nadia N Hansel, Kathleen Barnes, Benjamin Raby, Kelan G Tantisira, Scott T Weiss
Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy
Anna Ardissone, Cinzia Bragato, Lorella Caffi, Flavia Blasevich, Sabrina Maestrini, Maria Luisa Bianchi, Lucia Morandi, Isabella Moroni, Marina Mora
OTOF mutation screening in Japanese severe to profound recessive hearing loss patients
Yoh-ichiro Iwasa, Shin-ya Nishio, Hidekane Yoshimura, Yukihiko Kanda, Kozo Kumakawa, Satoko Abe, Yasushi Naito, Kyoko Nagai, Shin-ichi Usami
Cancer-testis gene expression is associated with the methylenetetrahydrofolate reductase 677 C>T polymorphism in non-small cell lung carcinoma
Kerem M Senses, Mithat Gonen, Ahmet R Barutcu, Zeynep Kalaylioglu, Murat Isbilen, Ozlen Konu, Yao T Chen, Nasser K Altorki, Ali O Gure
A PARK2 polymorphism associated with delayed neuropsychological sequelae after carbon monoxide poisoning
Fei Liang, Wenqiang Li, Ping Zhang, Yanxia Zhang, Jiapeng Gu, Xiahong Wang, Hongxing Zhang, Renjun Gu
Genetic variants associated with fasting glucose and insulin concentrations in an ethnically diverse population: results from the Population Architecture using Genomics and Epidemiology (PAGE) study
Megan D Fesinmeyer, James B Meigs, Kari E North, Fredrick R Schumacher, Petra Bůžková, Nora Franceschini, Jeffrey Haessler, Robert Goodloe, Kylee L Spencer, Venkata Saroja Voruganti, Barbara V Howard, Rebecca Jackson, Laurence N Kolonel, Simin Liu, JoAnn E Manson, Kristine R Monroe, Kenneth Mukamal, Holli H Dilks, Sarah A Pendergrass, Andrew Nato, Peggy Wan, Lynne R Wilkens, Loic Le Marchand, José Luis Ambite, Steven Buyske, Jose C Florez, Dana C Crawford, Lucia A Hindorff, Christopher A Haiman, Ulrike Peters, James S Pankow
Relationship between polymorphisms in vitamin D metabolism-related genes and the risk of rickets in Han Chinese children
Yuling Zhang, Shufen Yang, Ye Liu, Lihong Ren
Defining the contribution of SNPs identified in asthma GWAS to clinical variables in asthmatic children
Asif S Tulah, John W Holloway, Ian Sayers
Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients
Sanne M Petersen, Mette Dandanell, Lene J Rasmussen, Anne-Marie Gerdes, Lotte N Krogh, Inge Bernstein, Henrik Okkels, Friedrik Wikman, Finn C Nielsen, Thomas v O Hansen
Effects of vitamin D receptor polymorphisms on urolithiasis risk: a meta-analysis
Pan Zhang, Wei Nie, Hong Jiang
Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype
Eline van Meel, Daniel J Wegner, Paul Cliften, Marcia C Willing, Frances V White, Stuart Kornfeld, F Sessions Cole
Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract
Xueyuan Jia, Feng Zhang, Jing Bai, Linghan Gao, Xuelong Zhang, Haiming Sun, Donglin Sun, Rongwei Guan, Wenjing Sun, Lidan Xu, Zhichao Yue, Yang Yu, Songbin Fu
Association of interleukin-33 gene single nucleotide polymorphisms with ischemic stroke in north Chinese population
Liang Guo, Xinghu Zhou, Xiaofan Guo, Xingang Zhang, Yingxian Sun
Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation
Monica Bandettini di Poggio, Claudia Nesti, Claudio Bruno, Maria Chiara Meschini, Angelo Schenone, Filippo M Santorelli
Genetic and biochemical markers of hydroxyurea therapeutic response in sickle cell anemia
Danilo Grunig Humberto Silva, Edis Belini Junior, Gisele Cristine de Souza Carrocini, Lidiane de Souza Torres, Octávio Ricci Júnior, Clarisse Lopes de Castro Lobo, Claudia Regina Bonini-Domingos, Eduardo Alves de Almeida
Aneuploidy in neuroblastoma tumors is not associated with inactivating point mutations in the STAG2 gene
Anna Djos, Susanne Fransson, Per Kogner, Tommy Martinsson
Studies of association of AGPAT6variants with type 2 diabetes and related metabolic phenotypes in 12,068 Danes
Lena Sønder Snogdal, Niels Grarup, Karina Banasik, Mette Wod, Torben Jørgensen, Daniel R Witte, Torsten Lauritzen, Aneta A Nielsen, Ivan Brandslund, Cramer Christensen, Oluf Pedersen, Knud Yderstræde, Henning Beck-Nielsen, Jan Erik Henriksen, Torben Hansen, Kurt Højlund
Association between mutation of the NF2gene and monosomy 22 in menopausal women with sporadic meningiomas
MariaDolores Tabernero, María Jara-Acevedo, Ana B Nieto, Arancha Rodríguez Caballero, Álvaro Otero, Pablo Sousa, Jesús Gonçalves, Patricia H Domingues, Alberto Orfao
SOD2gene Val16Ala polymorphism is associated with macroalbuminuria in Mexican Type 2 Diabetes patients: a comparative study and meta-analysis
Iván de Jesús Ascencio-Montiel, Esteban J Parra, Adán Valladares-Salgado, Jaime H Gómez-Zamudio, Jesús Kumate-Rodriguez, Jorge Escobedo-de-la-Peña, Miguel Cruz
Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity
Jeana T DaRe, Valeria Vasta, John Penn, Nguyen-Thao B Tran, Si Houn Hahn
Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants
Ana Paula dos Santos, Juliana Gabriel Ribeiro Andrade, Cristiane Santos Cruz Piveta, Juliana de Paulo, Gil Guerra-Junior, Maricilda Palandi de Mello, Andréa Trevas Maciel-Guerra
Lipid trait-associated genetic variation is associated with gallstone disease in the diverse Third National Health and Nutrition Examination Survey (NHANES III)
Robert Goodloe, Kristin Brown-Gentry, Niloufar B Gillani, Hailing Jin, Ping Mayo, Melissa Allen, Bob McClellan Jr, Jonathan Boston, Cara Sutcliffe, Nathalie Schnetz-Boutaud, Holli H Dilks, Dana C Crawford
Copy number variations in endoglin locus: mapping of large deletions in Spanish families with hereditary hemorrhagic telangiectasia type 1
Ana Fontalba, Jose L Fernández-Luna, Roberto Zarrabeitia, Lucia Recio-Poveda, Virginia Albiñana, Maria L Ojeda-Fernández, Carmelo Bernabéu, Luis A Alcaraz, Luisa M Botella
Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1genes
Donia Elhayek, Gustavo Perez de Nanclares, Slaheddine Chouchane, Saber Hamami, Adnène Mlika, Monia Troudi, Nadia Leban, Wafa Ben Romdane, Mohamed Neji Gueddiche, Féthi El Amri, Samir Mrabet, Jemni Ben Chibani, Luis Castaño, Amel Haj Khelil, Gema Ariceta
Vitamin D-responsive SGPP2 variants associated with lung cell expression and lung function
Brian J Reardon, Joyanna G Hansen, Ronald G Crystal, Denise K Houston, Stephen B Kritchevsky, Tamara Harris, Kurt Lohman, Yongmei Liu, George T O’Connor, Jemma B Wilk, Jason Mezey, Chuan Gao, Patricia A Cassano
A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease
Young Bin Hong, Ja Hyun Lee, Jin-Mo Park, Yu-Ri Choi, Young Se Hyun, Bo Ram Yoon, Jeong Hyun Yoo, Heasoo Koo, Sung-Chul Jung, Ki Wha Chung, Byung-Ok Choi
Heterozygous FA2H mutations in autism spectrum disorders
Isabelle Scheid, Anna Maruani, Guillaume Huguet, Claire S Leblond, Gudrun Nygren, Henrik Anckarsäter, Anita Beggiato, Maria Rastam, Fréderique Amsellem, I Carina Gillberg, Monique Elmaleh, Marion Leboyer, Christopher Gillberg, Catalina Betancur, Mary Coleman, Hiroko Hama, Edwin H Cook, Thomas Bourgeron, Richard Delorme
Influence of FTO variants on obesity, inflammation and cardiovascular disease risk biomarkers in Spanish children: a case–control multicentre study
Josune Olza, Azahara I Ruperez, Mercedes Gil-Campos, Rosaura Leis, Dietmar Fernandez-Orth, Rafael Tojo, Ramon Cañete, Angel Gil, Concepcion M Aguilera
Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum
Tatiana Yu Komarova, Victoria A Korneva, Tatiana Yu Kuznetsova, Alexandra S Golovina, Vadim B Vasilyev, Michail Yu Mandelshtam
Sequencing of the IL6 gene in a case–control study of cerebral palsy in children
Pouya Khankhanian, Sergio E Baranzini, Britt A Johnson, Lohith Madireddy, Dorothee Nickles, Lisa A Croen, Yvonne W Wu
Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome
Tina Storm, Christina Zeitz, Olivier Cases, Sabine Amsellem, Pierre J Verroust, Mette Madsen, Jean-François Benoist, Sandrine Passemard, Sophie Lebon, Iben Møller Jønsson, Francesco Emma, Heidi Koldsø, Jens Michael Hertz, Rikke Nielsen, Erik I Christensen, Renata Kozyraki
Optimization of simultaneous screening of the main mutations involved in non-syndromic deafness using the TaqMan® OpenArray™ Genotyping Platform
Fábio Tadeu Arrojo Martins, Priscila Zonzini Ramos, Maria Carolina Costa Melo Svidnicki, Arthur Menino Castilho, Edi Lúcia Sartorato
Genetic mapping of high caries experience on human chromosome 13
Erika C Küchler, Kathleen Deeley, Bao Ho, Samantha Linkowski, Chelsea Meyer, Jacqueline Noel, M Zahir Kouzbari, Mariana Bezamat, José M Granjeiro, Leonardo S Antunes, Livia Azeredo Antunes, Fernanda Volpe de Abreu, Marcelo C Costa, Patricia N Tannure, Figen Seymen, Mine Koruyucu, Asli Patir, Juan C Mereb, Fernando A Poletta, Eduardo E Castilla, Ieda M Orioli, Mary L Marazita, Alexandre R Vieira
The association between the angiotensin-converting enzyme-2 gene and blood pressure in a cohort study of adolescents
Lucile Malard, Lisa Kakinami, Jennifer O’Loughlin, Marie-Hélène Roy-Gagnon, Aurélie Labbe, Louise Pilote, Pavel Hamet, Johanne Tremblay, Gilles Paradis
The 3′-UTR of the adiponectin Q gene harbours susceptibility loci for atherosclerosis and its metabolic risk traits
Nzioka Muiya, Mohammed Al-Najai, Asma I Tahir, Samar Elhawari, Daisy Gueco, Editha Andres, Nejat Mazhar, Nada Altassan, Brian F Meyer, Maie Alshahid, Nduna Dzimiri
Multiplex genetic cancer testing identifies pathogenic mutations in TP53 and CDH1in a patient with bilateral breast and endometrial adenocarcinoma
Ellen Heitzer, Sigurd Lax, Ingrid Lafer, Stephanie M Müller, Gunda Pristauz, Peter Ulz, Stephan Jahn, Christoph Högenauer, Edgar Petru, Michael R Speicher, Jochen B Geigl