BMC Medical Genetics - oalib

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ISSN: 2333-9721
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BMC Medical Genetics

ISSN Print: 1471-2350

ISSN Online:

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

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A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability

Muzammil Khan, Muhammad Rafiq, Abdul Noor, Nadir Ali, Ghazanfar Ali, John B Vincent, Muhammad Ansar

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

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

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-Magalh？es, 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

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

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

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

Parental ages and levels of DNA methylation in the newborn are correlated

Ronald M Adkins, Fridtjof Thomas, Frances A Tylavsky, Julia Krushkal

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

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

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 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

Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy

Gitte J Almind, Karen Gr？nskov, Dan Milea, Michael Larsen, Karen Br？ndum-Nielsen, Jakob Ek

The PTPN22 C1858T gene variant is associated with proinsulin in new-onset type 1 diabetes

Lotte B Nielsen, Sven P？rksen, Marie Louise M Andersen, Siri Fredheim, Jannet Svensson, Philip Hougaard, Maurizio Vanelli, Jan ？man, Henrik B Mortensen, Lars Hansen, the Hvidoere Study Group on Childhood Diabetes

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 Porras, Mercè Hernandez, Fátima Sabench, Daniel del Castillo, Cristóbal Richart

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

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

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

IL13 genetic polymorphisms, smoking, and eczema in women: a case-control study in Japan

Yoshihiro Miyake, Keiko Tanaka, Masashi Arakawa

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, the New York Crohn's Disease Working Group

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

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

A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1

Ga？l Manes, Maxime Hebrard, Béatrice Bocquet, Isabelle Meunier, Delphine Coustes-Chazalette, Audrey Sénéchal, Anne Bolland-Augé, Diana Zelenika, Christian P Hamel

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

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

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

Lack of association between genetic polymorphisms within DUSP12 - ATF6 locus 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

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

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

Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder

Vanesa álvarez-Iglesias, Ana Mosquera-Miguel, Ivón Cuscó, ángel Carracedo, Luis Pérez-Jurado, Antonio Salas

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 Teruel, Juan Rodríguez, Paul McKeigue, Teresa Mesa T, Evelyn Fuentes, Adolfo Cepero A, Milagros Hernandez, John RM Copeland JRM, Cleusa P Ferri, Martin J Prince

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

KCNE1 D85N polymorphism — a sex-specific modifier in type 1 long QT syndrome?

Annukka M Lahtinen, Annukka Marjamaa, Heikki Swan, Kimmo Kontula

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 Hubal

SERPINE2 haplotype as a risk factor for panlobular type of emphysema

Mari K Kukkonen, Emmi Tiili, Satu H？m？l？inen, Tapio Vehmas, Panu Oksa, P？ivi Piiril？, 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

Disorder-specific effects of polymorphisms at opposing ends of the Insulin Degrading Enzyme gene

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

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

"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

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, H？kon K Gjessing, Nils-Halvdan Morken, Verena Sengpiel, Scott M Williams, Kelli K Ryckman, Per Magnus, Bo Jacobsson

Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta

Ortrud K Steinlein, Eric Aichinger, Holger Trucks, Thomas Sander

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

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

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 Bishop, Margaret A Knowles, Anne E Kiltie

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

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

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

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

Genetic susceptibility of intervertebral disc degeneration among young Finnish adults

Anthi Kelempisioti, Pasi J Eskola, Annaleena Okuloff, Ulla Karjalainen, Jani Takatalo, Iita Daavittila, Jaakko Niinim？ki, Roberto B Sequeiros, Osmo Tervonen, Svetlana Solovieva, Patrick YP Kao, You-Qiang Song, Kenneth MC Cheung, Danny Chan, Leena Ala-Kokko, Marjo-Riitta J？rvelin, Jaro Karppinen, Minna M？nnikk？

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