BMC Medical Genetics - oalib

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BMC Medical Genetics

ISSN Print: 1471-2350

ISSN Online:

主页: http://www.biomedcentral.com/bmcmedgenet

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Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?

Nuria Gómez-Fernández, Sergi Castellví-Bel, Ceres Fernández-Rozadilla, Francesc Balaguer, Jenifer Mu？oz, Irene Madrigal, Montserrat Milà, Bego？a Gra？a, Ana Vega, Antoni Castells, ángel Carracedo, Clara Ruiz-Ponte

118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects

Gary M Shaw, Wei Lu, Huiping Zhu, Wei Yang, Farren BS Briggs, Suzan L Carmichael, Lisa F Barcellos, Edward J Lammer, Richard H Finnell

Lack of association of TIM3 polymorphisms and allergic phenotypes

Jian Zhang, Denise Daley, Loubna Akhabir, Dorota Stefanowicz, Moira Chan-Yeung, Allan B Becker, Catherine Laprise, Peter D Paré, Andrew J Sandford

Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique

Haneen Sadick, Johanna Hage, Ulrich Goessler, Jens Stern-Straeter, Frank Riedel, Karl Hoermann, Peter Bugert

Copy-number variation in BMPR2 is not associated with the pathogenesis of pulmonary arterial hypertension

Jennifer A Johnson, Cindy L Vnencak-Jones, Joy D Cogan, James E Loyd, James West

C-Reactive protein gene variants are associated with postoperative C-reactive protein levels after coronary artery bypass surgery

Tj？rvi E Perry, Jochen D Muehlschlegel, Kuang-Yu Liu, Amanda A Fox, Charles D Collard, Simon C Body, Stanton K Shernan, the CABG Genomics Investigators

Genetic variation in Fcγ receptor IIa and risk of coronary heart disease: negative results from two large independent populations

Mahir Karakas, Michael M Hoffmann, Caren Vollmert, Dietrich Rothenbacher, Christa Meisinger, Bernhard Winkelmann, Natalie Khuseyinova, Bernhard O B？hm, Thomas Illig, Winfried M？rz, Wolfgang Koenig

Type 2 diabetes gene TCF7L2 polymorphism is not associated with fetal and postnatal growth in two birth cohort studies

Dennis O Mook-Kanamori, Sandra WK de Kort, Cornelia M van Duijn, Andre G Uitterlinden, Albert Hofman, Henri？tte A Moll, Eric AP Steegers, Anita CS Hokken-Koelega, Vincent WV Jaddoe

Do the mutations of C1GALT1C1 gene play important roles in the genetic susceptibility to Chinese IgA nephropathy?

Gui-Sen Li, Guang-Jun Nie, Hong Zhang, Ji-Cheng LV, Yan Shen, Hai-Yan Wang

ALDH1A2 (RALDH2) genetic variation in human congenital heart disease

Marilene Pavan, Viviane F Ruiz, Fábio A Silva, Tiago J Sobreira, Roberta M Cravo, Michelle Vasconcelos, Lívia P Marques, Sonia MF Mesquita, José E Krieger, Ant？nio AB Lopes, Paulo S Oliveira, Alexandre C Pereira, José Xavier-Neto

Autism genetic database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites

Gregory Matuszek, Zohreh Talebizadeh

Multiple splice defects in ABCA1 cause low HDL-C in a family with Hypoalphalipoproteinemia and premature coronary disease

Jeffrey Rhyne, Myrna M Mantaring, David F Gardner, Michael Miller

Unambiguous molecular detections with multiple genetic approach for the complicated chromosome 22q11 deletion syndrome

Chen Yang, Cheng-Hung Huang, Mei-Leng Cheong, Kun-Long Hung, Lung-Huang Lin, Yeong-Seng Yu, Chih-Cheng Chien, Huei-Chen Huang, Chan-Wei Chen, Chi-Jung Huang

Parental diabetes status reveals association of mitochondrial DNA haplogroup J1 with type 2 diabetes

Jeanette Feder, Ofer Ovadia, Ilana Blech, Josef Cohen, Julio Wainstein, Ilana Harman-Boehm, Benjamin Glaser, Dan Mishmar

Association between a rare SNP in the second intron of human Agouti related protein gene and increased BMI

Ineta Kalnina, Ivo Kapa, Valdis Pirags, Vita Ignatovica, Helgi B Schi？th, Janis Klovins

Genetic and other factors determining mannose-binding lectin levels in American Indians: the Strong Heart Study

Lyle G Best, Robert E Ferrell, Susan DeCroo, Kari E North, Jean W MacCluer, Ying Zhang, Elisa T Lee, Barbara V Howard, Jason Umans, Vittorio Palmieri, Peter Garred

A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness

Soraya Bardien, Hannique Human, Tashneem Harris, Gwynneth Hefke, Rene Veikondis, H Simon Schaaf, Lize van der Merwe, John H Greinwald, Johan Fagan, Greetje de Jong

Association study of SHANK3 gene polymorphisms with autism in Chinese Han population

Jian Qin, Meixiang Jia, Lifang Wang, Tianlan Lu, Yan Ruan, Jing Liu, Yanqing Guo, Jishui Zhang, Xiaoling Yang, Weihua Yue, Dai Zhang

A novel c.-22T>C mutation in GALK1 promoter is associated with elevated galactokinase phenotype

Hyung-Doo Park, Yoon-Kyoung Kim, Kyoung Park, Jin Q Kim, Young-Han Song, Junghan Song

The common FTO variant rs9939609 is not associated with BMI in a longitudinal study on a cohort of Swedish men born 1920-1924

Josefin A Jacobsson, Ulf Risérus, Tomas Axelsson, Lars Lannfelt, Helgi B Schi？th, Robert Fredriksson

Power of multifactor dimensionality reduction and penalized logistic regression for detecting gene-gene Interaction in a case-control study

Hua He, William S Oetting, Marcia J Brott, Saonli Basu

DYRK1A genetic variants are not linked to Alzheimer's disease in a Spanish case-control cohort

José Vázquez-Higuera, Pascual Sánchez-Juan, Eloy Rodríguez-Rodríguez, Ignacio Mateo, Ana Pozueta, Ana Frank, Isabel Sastre, Fernando Valdivieso, José Berciano, María J Bullido, Onofre Combarros

Association of vitamin D receptor polymorphisms with the risk of prostate cancer in the Han population of Southern China

Yongheng Bai, Yaping Yu, Bin Yu, Jianrong Ge, Jingzhang Ji, Hong Lu, Jia Wei, Zhiliang Weng, Zhihua Tao, Jianxin Lu

PIN1 gene variants in Alzheimer's disease

Aleksandra Maruszak, Krzysztof Safranow, Katarzyna Gustaw, Beata Kijanowska-Ha？adyna, Katarzyna Jakubowska, Maria Olszewska, Maria Styczyńska, Mariusz Berdyński, Andrzej Tysarowski, Dariusz Chlubek, Janusz Siedlecki, Maria Barcikowska, Cezary ？ekanowski

A novel study of Copy Number Variations in Hirschsprung disease using the Multiple Ligation-dependent Probe Amplification (MLPA) technique

Rocío Nú？ez-Torres, Raquel M Fernández, Manuel López-Alonso, Guillermo Anti？olo, Salud Borrego

An Open Access Database of Genome-wide Association Results

Andrew D Johnson, Christopher J O'Donnell

Association between TCF7L2 gene polymorphisms and susceptibility to Type 2 Diabetes Mellitus: a large Human Genome Epidemiology (HuGE) review and meta-analysis

Yu Tong, Ying Lin, Yuan Zhang, Jiyun Yang, Yawei Zhang, Hengchuan Liu, Ben Zhang

DNA instability in replicating Huntington's disease lymphoblasts

Milena Cannella, Vittorio Maglione, Tiziana Martino, Giuseppe Ragona, Luigi Frati, Guo-Min Li, Ferdinando Squitieri

SLC6A3 and body mass index in the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial

Elizabeth M Azzato, Lindsay M Morton, Andrew W Bergen, Sophia S Wang, Nilanjan Chatterjee, Paul Kvale, Meredith Yeager, Richard B Hayes, Stephen J Chanock, Neil E Caporaso

An investigation of ribosomal protein L10 gene in autism spectrum disorders

Xiaohong Gong, Richard Delorme, Fabien Fauchereau, Christelle M Durand, Pauline Chaste, Catalina Betancur, Hany Goubran-Botros, Gudrun Nygren, Henrik Anckars？ter, Maria Rastam, I Carina Gillberg, Svenny Kopp, Marie-Christine Mouren-Simeoni, Christopher Gillberg, Marion Leboyer, Thomas Bourgeron

Genetic association study of selected candidate genes (ApoB, LPL, Leptin) and telomere length in obese and hypertensive individuals

Birajalaxmi Das, Nilambari Pawar, Divyalakshmi Saini, M Seshadri

IL6 and CRP haplotypes are associated with COPD risk and systemic inflammation: a case-control study

Dilyara G Yanbaeva, Mieke A Dentener, Martijn A Spruit, Jeanine J Houwing-Duistermaat, Daniel Kotz, Valéria Passos, Emiel FM Wouters

Association analyses of the INSIG2 polymorphism in the obesity and cholesterol levels of Korean populations

Seongwon Cha, Imhoi Koo, Sun Choi, Byung Park, Kil Kim, Jae-Ryong Kim, Hyoung Shin, Jong Kim

FTO gene variation and measures of body mass in an African population

Branwen J Hennig, Anthony J Fulford, Giorgio Sirugo, Pura Rayco-Solon, Andrew T Hattersley, Timothy M Frayling, Andrew M Prentice

Locations and patterns of meiotic recombination in two-generation pedigrees

Jason C Ting, Elisha DO Roberson, Duane G Currier, Jonathan Pevsner

Gastric inhibitory polypeptide receptor: association analyses for obesity of several polymorphisms in large study groups

Carla IG Vogel, André Scherag, Günter Br？nner, Thuy T Nguyen, Hai-Jun Wang, Harald Grallert, Alexa Bornhorst, Dieter Rosskopf, Henry V？lzke, Thomas Reinehr, Winfried Rief, Thomas Illig, H-Erich Wichmann, Helmut Sch？fer, Johannes Hebebrand, Anke Hinney

Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples

Bj？rn Menten, Katrien Swerts, Barbara Chiaie, Sandra Janssens, Karen Buysse, Jan Philippé, Frank Speleman

Haplotype frequencies in a sub-region of chromosome 19q13.3, related to risk and prognosis of cancer, differ dramatically between ethnic groups

Mikkel H Schierup, Thomas Mailund, Heng Li, Jun Wang, Anne Tj？nneland, Ulla Vogel, Lars Bolund, Bj？rn A Nex？

Contrasting genetic association of IL2RA with SLE and ANCA – associated vasculitis

Edward J Carr, Menna R Clatworthy, Christopher E Lowe, John A Todd, Andrew Wong, Timothy J Vyse, Lavanya Kamesh, Richard A Watts, Paul A Lyons, Kenneth GC Smith

Non-replication of an association of CTNNBL1 polymorphisms and obesity in a population of Central European ancestry

Carla IG Vogel, Brandon Greene, André Scherag, Timo D Müller, Susann Friedel, Harald Grallert, Iris M Heid, Thomas Illig, H-Erich Wichmann, Helmut Sch？fer, Johannes Hebebrand, Anke Hinney

Studies of CTNNBL1 and FDFT1 variants and measures of obesity: analyses of quantitative traits and case-control studies in 18,014 Danes

Camilla Andreasen, Mette Mogensen, Knut Borch-Johnsen, Annelli Sandb？k, Torsten Lauritzen, Katrine Almind, Lars Hansen, Torben J？rgensen, Oluf Pedersen, Torben Hansen

Genetic effect of CysLTR2 polymorphisms on its mRNA synthesis and stabilization

Jeong-Ah Shin, Hun Chang, Se-Min Park, An-Soo Jang, Sung Park, Jong Park, Soo-Taek Uh, Gune Il Lim, Taiyoun Rhim, Mi-Kyeong Kim, Inseon S Choi, Il Chung, Byung Park, Hyoung Shin, Choon-Sik Park

Genome-wide association reveals three SNPs associated with sporadic amyotrophic lateral sclerosis through a two-locus analysis

Qiuying Sha, Zhaogong Zhang, Jennifer C Schymick, Bryan J Traynor, Shuanglin Zhang

Association of APOE polymorphism with chronic kidney disease in a nationally representative sample: a Third National Health and Nutrition Examination Survey (NHANES III) Genetic Study

Audrey Y Chu, Rulan S Parekh, Brad C Astor, Josef Coresh, Yvette Berthier-Schaad, Michael W Smith, Alan R Shuldiner, Wen Kao

Frequency of single nucleotide polymorphisms in NOD1 gene of ulcerative colitis patients: a case-control study in the Indian population

Ravi Verma, Vineet Ahuja, Jaishree Paul

Single nucleotide polymorphisms in obesity-related genes and all-cause and cause-specific mortality: a prospective cohort study

Lisa Gallicchio, Howard H Chang, Dana K Christo, Lucy Thuita, Han Huang, Paul Strickland, Ingo Ruczinski, Sandra Clipp, Kathy J Helzlsouer

Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex

Melika Mozaffari, Marianne Hoogeveen-Westerveld, David Kwiatkowski, Julian Sampson, Rosemary Ekong, Sue Povey, Johan T den Dunnen, Ans van den Ouweland, Dicky Halley, Mark Nellist

Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis

Suet Chen, Mehmet Cilingiroglu, Josh Todd, Raffaella Lombardi, James T Willerson, Antonio M Gotto, Christie M Ballantyne, AJ Marian

A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form

Paola Concolino, Enrica Mello, Angelo Minucci, Emiliano Giardina, Cecilia Zuppi, Vincenzo Toscano, Ettore Capoluongo

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