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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R497K polymorphism in epidermal growth factor receptor gene is associated with the risk of acute coronary syndrome

Lin-Bo Gao, Bin Zhou, Lin Zhang, Ye-Sheng Wei, Yan-Yun Wang, Wei-Bo Liang, Mei-Li Lv, Xin-Min Pan, Yu-Cheng Chen, Li Rao

Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study

Patrick F McArdle, Sue Rutherford, Braxton D Mitchell, Coleen M Damcott, Ying Wang, Vasan Ramachandran, Sandy Ott, Yen-Pei C Chang, Daniel Levy, Nanette Steinle

TCF7L2 gene polymorphisms do not predict susceptibility to diabetes in tropical calcific pancreatitis but may interact with SPINK1 and CTSB mutations in predicting diabetes

Swapna Mahurkar, Seema Bhaskar, D Nageshwar Reddy, Swami Prakash, G Venkat Rao, Shivaram Singh, Varghese Thomas, Giriraj Chandak

Analytical approaches to detect maternal/fetal genotype incompatibilities that increase risk of pre-eclampsia

Neeta Parimi, Gerard Tromp, Helena Kuivaniemi, Jyh Nien, Ricardo Gomez, Roberto Romero, Katrina AB Goddard

Variation in WNT7A is unlikely to be a cause of familial Congenital Talipes Equinovarus

Guoqing Liu, Julie Inglis, Amanda Cardy, Duncan Shaw, Sukhy Sahota, Raoul Hennekam, Linda Sharp, Zosia Miedzybrodzka

The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population

Lise Christensen, Bo E Madsen, Friedrik P Wikman, Carsten Wiuf, Karen Koed, Anne Tj？nneland, Anja Olsen, Ann-Christine Syv？nen, Claus L Andersen, Torben F ？rntoft

Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families

Barbara Peric, Petra Cerkovnik, Srdjan Novakovic, Janez Zgajnar, Nikola Besic, Marko Hocevar

The NEI/NCBI dbGAP database: Genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration

Hong Zhang, Margaux A Morrison, Andy DeWan, Scott Adams, Michael Andreoli, Nancy Huynh, Maureen Regan, Alison Brown, Joan W Miller, Ivana K Kim, Josephine Hoh, Margaret M DeAngelis

Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM

Shin-Yu Lin, Yi-Ning Su, Chia-Cheng Hung, Woei Tsay, Shyh-Shin Chiou, Chieh-Ting Chang, Hong-Nerng Ho, Chien-Nan Lee

Association of ADAM33 gene polymorphisms with adult allergic asthma and rhinitis in a Chinese Han population

Dongju Su, Ximei Zhang, Hong Sui, Fuzhen Lü, Lianhong Jin, Jing Zhang

Gene polymorphisms of superoxide dismutases and catalase in diabetes mellitus

Milan Flekac, Jan Skrha, Jirina Hilgertova, Zdena Lacinova, Marcela Jarolimkova

Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay

Josef Davidsson, Anna Collin, Gudrun Bj？rkhem, Maria Soller

Complex aetiology of an apparently Mendelian form of Mental Retardation

Ana Beleza-Meireles, Ingrid Kockum, Qiu-Ping Yuan, Simone Picelli, Lennart Wetterberg, Karl-Henrik Gustavson, Martin Schalling

Detection of Catalase as a major protein target of the lipid peroxidation product 4-HNE and the lack of its genetic association as a risk factor in SLE

Anil D'souza, Biji T Kurien, Rosalie Rodgers, Jaideep Shenoi, Sadamu Kurono, Hiroyuki Matsumoto, Kenneth Hensley, Swapan K Nath, R Hal Scofield

Cathepsin D SNP associated with increased risk of variant Creutzfeldt-Jakob disease

Matthew T Bishop, Gabor G Kovacs, Pascual Sanchez-Juan, Richard SG Knight

Novel de novo BRCA2 mutation in a patient with a family history of breast cancer

Thomas Hansen, Marie Bisgaard, Lars J？nson, Anders Albrechtsen, Bettina Filtenborg-Barnkob, Hans Eiberg, Bent Ejlertsen, Finn C Nielsen

Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes

Masaya Fujimoto, Kohsuke Imai, Kenji Hirata, Reiichi Kashiwagi, Yoichi Morinishi, Katsuhiko Kitazawa, Sei Sasaki, Tadao Arinami, Shigeaki Nonoyama, Emiko Noguchi

Association between promoter -1607 polymorphism of MMP1 and Lumbar Disc Disease in Southern Chinese

You-Qiang Song, Daniel WH Ho, Jaro Karppinen, Patrick YP Kao, Bao-Jian Fan, Keith DK Luk, Shea-Ping Yip, John CY Leong, Kathryn SE Cheah, Pak Sham, Danny Chan, Kenneth MC Cheung

A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings

Naomi F Bramhall, Jeremy C Kallman, Aimee M Verrall, Valerie A Street

Role of TGF-β1 haplotypes in the occurrence of myocardial infarction in young Italian patients

Francesca Crobu, Luigi Palumbo, Erica Franco, Serena Bergerone, Sonia Carturan, Simonetta Guarrera, Simone Frea, Gianpaolo Trevi, Alberto Piazza, Giuseppe Matullo

The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency

Jean-Pierre Bayley, Virpi Launonen, Ian PM Tomlinson

Heritability of cardiovascular risk factors in a Brazilian population: Baependi Heart Study

Camila M de Oliveira, Alexandre C Pereira, Mariza de Andrade, Júlia M Soler, José E Krieger

Genome wide association for substance dependence: convergent results from epidemiologic and research volunteer samples

Catherine Johnson, Tomas Drgon, Qing-Rong Liu, Ping-Wu Zhang, Donna Walther, Chuan-Yun Li, James C Anthony, Yulan Ding, William W Eaton, George R Uhl

Polymorphisms in the interleukin-10 gene cluster are possibly involved in the increased risk for major depressive disorder

Tanel Traks, Kati Koido, Triin Eller, Eduard Maron, Külli Kingo, Veiko Vasar, Eero Vasar, Sulev K？ks

Investigation of Gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility

Francesca Fernandez, Teresa Esposito, Rod A Lea, Natalie J Colson, Alfredo Ciccodicola, Fernando Gianfrancesco, Lyn R Griffiths

Lack of evidence for association of primary sclerosing cholangitis and primary biliary cirrhosis with risk alleles for Crohn's disease in Polish patients

Pawel Gaj, Andrzej Habior, Michal Mikula, Jerzy Ostrowski

Analysis of variants in DNA damage signalling genes in bladder cancer

Ananya Choudhury, Faye Elliott, Mark M Iles, Michael Churchman, Robert G Bristow, D Timothy Bishop, Anne E Kiltie

Design considerations in a sib-pair study of linkage for susceptibility loci in cancer

Richard A Kerber, Christopher I Amos, Beow Y Yeap, Dianne M Finkelstein, Duncan C Thomas

Association between LRP5 polymorphism and bone mineral density: a Bayesian meta-analysis

Bich NH Tran, Nguyen D Nguyen, John A Eisman, Tuan V Nguyen

French database of children and adolescents with Prader-Willi syndrome

Catherine Molinas, Laurent Cazals, Gwenaelle Diene, Melanie Glattard, Catherine Arnaud, Maithe Tauber, French Reference Centre for PWS (FrRefC-PWS)

Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein

Johann B？hm, Wolfram Heinritz, Alexander Craig, Mihailo Vujic, Britt-Marie Ekman-Joelsson, Jürgen Kohlhase, Ursula Froster

Birth weight and blood lipid levels in Spanish adolescents: Influence of selected APOE, APOC3 and PPARgamma2 gene polymorphisms. The AVENA Study

Jonatan R Ruiz, Idoia Labayen, Francisco B Ortega, Luis A Moreno, Domingo González-Lamu？o, Amelia Martí, Esther Nova, Miguel Fuentes, Carlos Redondo-Figuero, J Alfredo Martínez, Michael Sj？str？m, Manuel J Castillo, the AVENA Study Group

Association between Ngb polymorphisms and ischemic stroke in the Southern Chinese Han population

Yi Lin, Ling Fang, Xie-Hua Xue, Shen-Xing Murong, Ning Wang, Zhi-Ying Wu

Genetic polymorphisms are associated with serum levels of sex hormone binding globulin in postmenopausal women

José A Riancho, Carmen Valero, María T Zarrabeitia, María T García-Unzueta, José A Amado, Jesús González-Macías

Diabetes-specific genetic effects on obesity traits in American Indian populations: the Strong Heart Family Study

Nora Franceschini, Laura Almasy, Jean W MacCluer, Harald HH G？ring, Shelley A Cole, Vincent P Diego, Sandra Laston, Barbara V Howard, Elisa T Lee, Lyle G Best, Richard R Fabsitz, Kari E North

An intronic alteration of the fibroblast growth factor 10 gene causing ALSG-(aplasia of lacrimal and salivary glands) syndrome

Kathrin Scheckenbach, Vera Balz, Martin Wagenmann, Thomas K Hoffmann

Assessment of the feasibility of exon 45–55 multiexon skipping for duchenne muscular dystrophy

Laura van Vliet, Christa L de Winter, Judith CT van Deutekom, Gert-Jan B van Ommen, Annemieke Aartsma-Rus

Selecting a BRCA risk assessment model for use in a familial cancer clinic

Seema M Panchal, Marguerite Ennis, Sandra Canon, Louise J Bordeleau

Ser80Ile mutation and a concurrent Pro25Leu variant of the VHL gene in an extended Hungarian von Hippel-Lindau family

Attila Patocs, Peter Gergics, Katalin Balogh, Miklos Toth, Ferenc Fazakas, Istvan Liko, Karoly Racz

Dinucleotide repeat polymorphism in Fms-like tyrosine kinase-1 (Flt-1) gene is not associated with preeclampsia

Shin-Young Kim, Ji-Hyae Lim, Jae-Hyug Yang, Moon-Young Kim, Jung-Yeol Han, Hyun-Kyong Ahn, Jun-Seek Choi, So-Yeon Park, Mi-Jin Kim, Hyun-Mee Ryu

A luteinizing hormone receptor intronic variant is significantly associated with decreased risk of Alzheimer's disease in males carrying an apolipoprotein E ε4 allele

Ryan J Haasl, M Reza Ahmadi, Sivan Meethal, Carey E Gleason, Sterling C Johnson, Sanjay Asthana, Richard L Bowen, Craig S Atwood

DNA methylation and mRNA expression of SYN III, a candidate gene for schizophrenia

Brenda C Murphy, Richard L O'Reilly, Shiva M Singh

The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies

Stéphane Cauchi, Kevin T Nead, Hélène Choquet, Fritz Horber, Natascha Potoczna, Beverley Balkau, Michel Marre, Guillaume Charpentier, Philippe Froguel, David Meyre

Folliculin mutations are not associated with severe COPD

Michael H Cho, Barbara J Klanderman, Augusto A Litonjua, David Sparrow, Edwin K Silverman, Benjamin A Raby

Polymorphisms of selected Xenobiotic Genes contribute to the development of Papillary Thyroid Cancer susceptibility in Middle Eastern population

Abdul K Siraj, Muna Ibrahim, Maha Al-Rasheed, Jehad Abubaker, Rong Bu, Shakaib U Siddiqui, Fouad Al-Dayel, Osama Al-Sanea, Abdulrahman Al-Nuaim, Shahab Uddin, Khawla Al-Kuraya

Impact of nine common type 2 diabetes risk polymorphisms in Asian Indian Sikhs: PPARG2 (Pro12Ala), IGF2BP2, TCF7L2 and FTO variants confer a significant risk

Dharambir K Sanghera, Lyda Ortega, Shizhong Han, Jairup Singh, Sarju K Ralhan, Gurpreet S Wander, Narinder K Mehra, John J Mulvihill, Robert E Ferrell, Swapan K Nath, Mohammed I Kamboh

Weak or no association of TCF7L2 variants with Type 2 diabetes risk in an Arab population

Osama Alsmadi, Khalid Al-Rubeaan, Gamal Mohamed, Fadi Alkayal, Haya Al-Saud, Nouran Al-Saud, Nasser Al-Daghri, Shahinaz Mohammad, Brian F Meyer

Autosomal dominant hereditary spastic paraplegia: Novel mutations in the REEP1 gene (SPG31)

Katharina J Schlang, Larissa Arning, Joerg T Epplen, Susanne Stemmler

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