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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Effects of SLC10A2 variant rs9514089 on gallstone risk and serum cholesterol levels- meta-analysis of three independent cohorts

Anke T？njes, Henning Wittenburg, Jan Halbritter, Olga Renner, Simone Harsch, Eduard F Stange, Frank Lammert, Michael Stumvoll, Peter Kovacs

Genetic and functional evaluation of the role of CXCR1 and CXCR2 in susceptibility to visceral leishmaniasis in north-east India

Sanjana Mehrotra, Michaela Fakiola, Joyce Oommen, Sarra E Jamieson, Anshuman Mishra, Medhavi Sudarshan, Puja Tiwary, Deepa Rani, Kumarasamy Thangaraj, Madhukar Rai, Shyam Sundar, Jenefer M Blackwell

Antagonistic pleiotropy as a widespread mechanism for the maintenance of polymorphic disease alleles

Ashley JR Carter, Andrew Q Nguyen

The role of ALOX5AP, LTA4H and LTB4R polymorphisms in determining baseline lung function and COPD susceptibility in UK smokers

Asif S Tulah, Stuart G Parker, Miriam F Moffatt, Andrew J Wardlaw, Martin J Connolly, Ian Sayers

Genome-wide association study identifies PERLD1 as asthma candidate gene

Ramani Anantharaman, Anand Andiappan, Pallavi Nilkanth, Bani Suri, De Yun Wang, Fook Tim Chew

A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population

Faiqa Imtiaz, Khalid Taibah, Khushnooda Ramzan, Ghada Bin-Khamis, Shelley Kennedy, Bashayer Al-Mubarak, Daniah Trabzuni, Rabab Allam, Abeer Al-Mostafa, Sameera Sogaty, Abdulmoneem H Al-Shaikh, Saeed S Bamukhayyar, Brian F Meyer, Mohammed Al-Owain

Genetic factors associated with patient-specific warfarin dose in ethnic Indonesians

Ivet M Suriapranata, Wen Tjong, Tingliang Wang, Andi Utama, Sunu B Raharjo, Yoga Yuniadi, Susan SW Tai

Vitamin D binding protein variants associate with asthma susceptibility in the Chinese han population

Fei Li, Lei Jiang, Saffron A Willis-Owen, Youming Zhang, Jinming Gao

Mutation screening of the RNF8, UBC13 and MMS2 genes in Northern Finnish breast cancer families

Mikko Vuorela, Katri Pylk？s, Robert Winqvist

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE

Steven E Boyden, Anna R Duncan, Elicia A Estrella, Hart GW Lidov, Lane J Mahoney, Jonathan S Katz, Louis M Kunkel, Peter B Kang

A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome

Aimee L Fenwick, Sarah C Bowdin, Regan EM Klatt, Andrew OM Wilkie

Case-control study of IL13 polymorphisms, smoking, and rhinoconjunctivitis in Japanese women: the Kyushu Okinawa Maternal and Child Health Study

Yoshihiro Miyake, Keiko Tanaka, Masashi Arakawa

Effect of heme oxygenase-1 polymorphisms on lung function and gene expression

Goh Tanaka, Farzian Aminuddin, Loubna Akhabir, Jian-Qing He, Karey Shumansky, John E Connett, Nicholas R Anthonisen, Raja T Abboud, Peter D Paré, Andrew J Sandford

De novo deletion in MECP2 in a monozygotic twin pair: a case report

Kirti Mittal, Madhulika Kabra, Ramesh Juyal, Thelma BK

Folate network genetic variation, plasma homocysteine, and global genomic methylation content: a genetic association study

Susan M Wernimont, Andrew G Clark, Patrick J Stover, Martin T Wells, Augusto A Litonjua, Scott T Weiss, J Michael Gaziano, Katherine L Tucker, Andrea Baccarelli, Joel Schwartz, Valentina Bollati, Patricia A Cassano

Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: Case report

Giovana T Torrezan, Felipe CC da Silva, Ana CV Krepischi, érika MM Santos, Fábio de O Ferreira, Benedito M Rossi, Dirce M Carraro

A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer

Zaida Garcia-Casado, Ignacio Romero, Antonio Fernandez-Serra, Luis Rubio, Francisco Llopis, Ana Garcia, Pilar Llombart, Jose A Lopez-Guerrero

High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy

Larissa R Stewart, April L Hall, Sung-Hae L Kang, Chad A Shaw, Arthur L Beaudet

A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Chinese patients

Zhiqing Wang, Yulan Chen, Baoping Wu, Haoxuan Zheng, Jiman He, Bo Jiang

CYP2C19 and ABCB1 gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population

Paulo CJL Santos, Renata AG Soares, Diogo BG Santos, Raimundo M Nascimento, George LLM Coelho, José C Nicolau, José G Mill, José E Krieger, Alexandre C Pereira

The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population

Vida Stegel, Mateja Krajc, Janez ？gajnar, Erik Teugels, Jacques De Grève, Marko Ho？evar, Srdjan Novakovi？

The minor C-allele of rs2014355 in ACADS is associated with reduced insulin release following an oral glucose load

Malene Hornbak, Karina Banasik, Johanne M Justesen, Nikolaj T Krarup, Camilla H Sandholt, ？sa Andersson, Annelli Sandb？k, Torsten Lauritzen, Charlotta Pisinger, Daniel R Witte, Thorkild IA S？rensen, Oluf Pedersen, Torben Hansen

Association analysis identifies ZNF750 regulatory variants in psoriasis

Ramon Y Birnbaum, Genki Hayashi, Idan Cohen, Annie Poon, Haoyan Chen, Ernest T Lam, Pui-Yan Kwok, Ohad S Birk, Wilson Liao

Mechanisms of ring chromosome formation, ring instability and clinical consequences

Roberta S Guilherme, Vera F Ayres Meloni, Chong A Kim, Renata Pellegrino, Sylvia S Takeno, Nancy B Spinner, Laura K Conlin, Denise M Christofolini, Leslie D Kulikowski, Maria I Melaragno

Fetal ERAP2 variation is associated with preeclampsia in African Americans in a case-control study

Lori D Hill, DaShaunda D Hilliard, Timothy P York, Sindhu Srinivas, Juan P Kusanovic, Ricardo Gomez, Michal A Elovitz, Roberto Romero, Jerome F Strauss

Enhanced genetic maps from family-based disease studies: population-specific comparisons

Chunsheng He, Daniel E Weeks, Steven Buyske, Goncalo R Abecasis, William C Stewart, Tara C Matise, The Enhanced Map Consortium

A novel COMP mutation in a pseudoachondroplasia family of Chinese origin

Li Dai, Liang Xie, Yanping Wang, Meng Mao, Nana Li, Jun Zhu, Christopher Kim, Yawei Zhang

Clinical and Molecular Characterization of Ataxia with Oculomotor Apraxia Patients In Saudi Arabia

Saeed A Bohlega, Jameela M Shinwari, Latifa J Al Sharif, Dania S Khalil, Thamer S Alkhairallah, Nada A Al Tassan

TCF7L2 and therapeutic response to sulfonylureas in patients with type 2 diabetes

Andreas Holstein, Michael Hahn, Antje K？rner, Michael Stumvoll, Peter Kovacs

Variants in KCNQ1 increase type II diabetes susceptibility in South Asians: A study of 3,310 subjects from India and the US

Latonya F Been, Sarju Ralhan, Gurpreet S Wander, Narinder K Mehra, JaiRup Singh, John J Mulvihill, Christopher E Aston, Dharambir K Sanghera

Whole-genome amplified DNA from stored dried blood spots is reliable in high resolution melting curve and sequencing analysis

Bo G Winkel, Mads V Hollegaard, Morten S Olesen, Jesper H Svendsen, Stig Hauns？, David M Hougaard, Jacob Tfelt-Hansen

Hearing impairment risk and interaction of folate metabolism related gene polymorphisms in an aging study

Yasue Uchida, Saiko Sugiura, Fujiko Ando, Tsutomu Nakashima, Hiroshi Shimokata

Association of the MAOA promoter uVNTR polymorphism with suicide attempts in patients with major depressive disorder

For-Wey Lung, Dong-Sheng Tzeng, Mei-Feng Huang, Ming-Been Lee

Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study

Meredith C Foster, Qiong Yang, Shih-Jen Hwang, Udo Hoffmann, Caroline S Fox

No evidence for association between SLC11A1 and visceral leishmaniasis in India

Sanjana Mehrotra, Joyce Oommen, Anshuman Mishra, Medhavi Sudharshan, Puja Tiwary, Sarra E Jamieson, Michaela Fakiola, Deepa Rani, Kumarasamy Thangaraj, Madhukar Rai, Shyam Sundar, Jenefer M Blackwell

Genotype-phenotype correlations among BRCA1 4153delA and 5382insC mutation carriers from Latvia

Grigorijs Plakhins, Arvids Irmejs, Andris Gardovskis, Signe Subatniece, Santa Rozite, Marianna Bitina, Guntars Keire, Gunta Purkalne, Uldis Teibe, Genadijs Trofimovics, Edvins Miklasevics, Janis Gardovskis

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing

Francesca Magri, Roberto Del Bo, Maria G D'Angelo, Alessandra Govoni, Serena Ghezzi, Sandra Gandossini, Monica Sciacco, Patrizia Ciscato, Andreina Bordoni, Silvana Tedeschi, Francesco Fortunato, Valeria Lucchini, Matteo Cereda, Stefania Corti, Maurizio Moggio, Nereo Bresolin, Giacomo P Comi

Serotonin transporter gene polymorphism may be associated with functional dyspepsia in a Japanese population

Fumihiko Toyoshima, Tadayuki Oshima, Shigemi Nakajima, Jun Sakurai, Junji Tanaka, Toshihiko Tomita, Kazutoshi Hori, Takayuki Matsumoto, Hiroto Miwa

Bio-Repository of DNA in stroke (BRAINS): A study protocol

Sunaina Yadav, Renata Schanz, Ankita Maheshwari, Muhammad Khan, Julia Slark, Ranil de Silva, Paul Bentley, Philippe Froguel, Jaspal Kooner, Padma Shrivastav, Kameshwar Prasad, Pankaj Sharma

ATA homozigosity in the IL-10 gene promoter is a risk factor for schizophrenia in Spanish females: a case control study

Berta Almoguera, Rosa Riveiro-Alvarez, Jorge Lopez-Castroman, Pedro Dorado, Rosario Lopez-Rodriguez, Pablo Fernandez-Navarro, Enrique Baca-García, Jose Fernandez-Piqueras, Rafael Dal-Ré, Francisco Abad-Santos, Adrián LLerena, Carmen Ayuso, Spanish Consortium of Pharmacogenetics Research in Schizophrenia

Methylenetetrahydrofolate reductase C677T polymorphism in patients with lung cancer in a Korean population

Lian-Hua Cui, Min-Ho Shin, Hee Kim, Hye-Rim Song, Jin-Mei Piao, Sun-Seog Kweon, Jin-Su Choi, Woo-Jun Yun, Young-Chul Kim, In-Jae Oh, Kyu-Sik Kim

Novel variants in the PRDX6 Gene and the risk of Acute Lung Injury following major trauma

Melanie Rushefski, Richard Aplenc, Nuala Meyer, Mingyao Li, Rui Feng, Paul N Lanken, Robert Gallop, Scarlett Bellamy, A Russell Localio, Sheldon I Feinstein, Aron B Fisher, Steven M Albelda, Jason D Christie

The role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study

Sally L Chappell, Leslie Daly, Juzer Lotya, Aiman Alsaegh, Tamar Guetta-Baranes, Josep Roca, Roberto Rabinovich, Kevin Morgan, Ann B Millar, Seamas C Donnelly, Vera Keatings, William MacNee, Jan Stolk, Pieter S Hiemstra, Massimo Miniati, Simonetta Monti, Clare M O'Connor, Noor Kalsheker

Genetic polymorphisms in folate pathway enzymes, DRD4 and GSTM1 are related to temporomandibular disorder

Angel Aneiros-Guerrero, Ana M Lendinez, Arturo R Palomares, Beatriz Perez-Nevot, Lidia Aguado, Alvaro Mayor-Olea, Maximiliano Ruiz-Galdon, Armando Reyes-Engel

Studies of a genetic variant in HK1 in relation to quantitative metabolic traits and to the prevalence of type 2 diabetes

Anette P Gjesing, Aneta A Nielsen, Ivan Brandslund, Cramer Christensen, Anneli Sandb？k, Torben J？rgensen, Daniel Witte, Amélie Bonnefond, Phillippe Froguel, Torben Hansen, Oluf Pedersen

CRP polymorphisms and chronic kidney disease in the third national health and nutrition examination survey

Adriana M Hung, T Alp Ikizler, Marie R Griffin, Kimberly Glenn, Robert A Greevy, Carlos G Grijalva, Edward D Siew, Dana C Crawford

HNF1A G319S variant, active cigarette smoking and incident type 2 diabetes in Aboriginal Canadians: a population-based epidemiological study

Sylvia H Ley, Robert A Hegele, Stewart B Harris, Mary Mamakeesick, Henian Cao, Philip W Connelly, Joel Gittelsohn, Ravi Retnakaran, Bernard Zinman, Anthony J Hanley

A 115-bp MethyLight assay for detection of p16 (CDKN2A) methylation as a diagnostic biomarker in human tissues

Jing Zhou, Jie Cao, Zheming Lu, Hongwei Liu, Dajun Deng

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