全部 标题 作者
关键词 摘要

OALib Journal期刊
ISSN: 2333-9721
费用：99美元
投递稿件

为什么选择我们？ >>
- 开源期刊
- 同行审议
- 快速出刊
- 终身存储
- 免费检索
- 免费推广
- 更多...
- 搜索引擎

BMC Medical Genetics

ISSN Print: 1471-2350

ISSN Online:

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

分享:




Go

A role for CETP TaqIB polymorphism in determining susceptibility to atrial fibrillation: a nested case control study

Folkert W Asselbergs, Jason H Moore, Maarten P van den Berg, Eric B Rimm, Rudolf A de Boer, Robin P Dullaart, Gerjan Navis, Wiek H van Gilst

Satisfaction survey with DNA cards method to collect genetic samples for pharmacogenetics studies

Jose M Vidal-Taboada, Mercedes Cucala, Sergio Mas Herrero, Amalia Lafuente, Albert Cobos

A study of the relationships between KLF2 polymorphisms and body weight control in a French population

Aline Meirhaeghe, Dominique Cottel, Philippe Amouyel

The Glu27 genotypes of the Beta2-adrenergic receptor are predictors for severe coronary artery disease

Khaled K Abu-Amero, Olayan M Al-Boudari, Gamal H Mohamed, Nduna Dzimiri

Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish

Jacob L McCauley, Daniel W Hahs, Lan Jiang, William K Scott, Kathleen A Welsh-Bohmer, Charles E Jackson, Jeffery M Vance, Margaret A Pericak-Vance, Jonathan L Haines

No role for estrogen receptor 1 gene intron 1 Pvu II and exon 4 C325G polymorphisms in migraine susceptibility

Natalie J Colson, Rod A Lea, Sharon Quinlan, Lyn R Griffiths

PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease

Katja Vouk, Lana Strmecki, Jitka Stekrova, Jana Reiterova, Matjaz Bidovec, Petra Hudler, Anton Kenig, Simona Jereb, Irena Zupanic-Pajnic, Joze Balazic, Guido Haarpaintner, Bostjan Leskovar, Anton Adamlje, Antun Skoflic, Reina Dovc, Radovan Hojs, Radovan Komel

E-selectin S128R polymorphism and severe coronary artery disease in Arabs

Khaled K Abu-Amero, Olayan M Al-Boudari, Gamal H Mohamed, Nduna Dzimiri

Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2)

Kathrin Engelfried, Matthias Vorgerd, Michaela Hagedorn, Gerhard Haas, Jürgen Gilles, J？rg T Epplen, Moritz Meins

Gene by environment QTL mapping through multiple trait analyses in blood pressure salt-sensitivity: identification of a novel QTL in rat chromosome 5

Júlia Soler, Alexandre C Pereira, César H T？rres, José E Krieger

Association study of genetic variants of pro-inflammatory chemokine and cytokine genes in systemic lupus erythematosus

Elena Sánchez, José M Sabio, José L Callejas, Enrique de Ramón, Rosa Garcia-Portales, Francisco J García-Hernández, Juan Jiménez-Alonso, Ma Francisca González-Escribano, Javier Martín, Bobby P Koeleman

Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis

Caitriona King, David E Barton

Genome-wide significance for a modifier of age at neurological onset in Huntington's Disease at 6q23-24: the HD MAPS study

Jian-Liang Li, Michael R Hayden, Simon C Warby, Alexandra Durr, Patrick J Morrison, Martha Nance, Christopher A Ross, Russell L Margolis, Adam Rosenblatt, Ferdinando Squitieri, Luigi Frati, Estrella Gómez-Tortosa, Carmen García, Oksana Suchowersky, Mary Klimek, Ronald JA Trent, Elizabeth McCusker, Andrea Novelletto, Marina Frontali, Jane S Paulsen, Randi Jones, Tetsuo Ashizawa, Alice Lazzarini, Vanessa C Wheeler, Ranjana Prakash, Gang Xu, Luc Djoussé, Jayalakshmi Mysore, Tammy Gillis, Michael Hakky

Generation Scotland: the Scottish Family Health Study; a new resource for researching genes and heritability

Blair H Smith, Harry Campbell, Douglas Blackwood, John Connell, Mike Connor, Ian J Deary, Anna F Dominiczak, Bridie Fitzpatrick, Ian Ford, Cathy Jackson, Gillian Haddow, Shona Kerr, Robert Lindsay, Mark McGilchrist, Robin Morton, Graeme Murray, Colin NA Palmer, Jill P Pell, Stuart H Ralston, David St Clair, Frank Sullivan, Graham Watt, Roland Wolf, Alan Wright, David Porteous, Andrew D Morris

Association of surfactant protein A polymorphisms with otitis media in infants at risk for asthma

Melinda M Pettigrew, Janneane F Gent, Yong Zhu, Elizabeth W Triche, Kathleen D Belanger, Theodore R Holford, Michael B Bracken, Brian P Leaderer

Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India

Sunita Saxena, Anurupa Chakraborty, Mishi Kaushal, Sanjeev Kotwal, Dinesh Bhatanager, Ravindar S Mohil, Chintamani Chintamani, Anil K Aggarwal, Veena K Sharma, Prakash C Sharma, Gilbert Lenoir, David E Goldgar, Csilla I Szabo

On the Wegener granulomatosis associated region on chromosome 6p21.3

Pawe？ Szyld, Peter Jagiello, Elena Csernok, Wolfgang L Gross, Joerg T Epplen

Interleukin-10 haplotypes in Celiac Disease in the Spanish population

Concepción Nú？ez, Diana Alecsandru, Jezabel Varadé, Isabel Polanco, Carlos Maluenda, Miguel Fernández-Arquero, Emilio G de la Concha, Elena Urcelay, Alfonso Martínez

Molecular and clinical analyses of 84 patients with tuberous sclerosis complex

Chia-Cheng Hung, Yi-Ning Su, Shu-Chin Chien, Horng-Huei Liou, Chih-Chuan Chen, Pau-Chung Chen, Chia-Jung Hsieh, Chih-Ping Chen, Wang-Tso Lee, Win-Li Lin, Chien-Nan Lee

Triglyceride associated polymorphisms of the APOA5 gene have very different allele frequencies in Pune, India compared to Europeans

Giriraj R Chandak, Kirsten J Ward, Chittaranjan S Yajnik, Anand N Pandit, Ashish Bavdekar, Charu V Joglekar, Caroline HD Fall, P Mohankrishna, Terence J Wilkin, Bradley S Metcalf, Michael N Weedon, Timothy M Frayling, Andrew T Hattersley

The E670G SNP in the PCSK9 gene is associated with polygenic hypercholesterolemia in men but not in women

David Evans, Frank U Beil

Expression profiling of clonal lymphocyte cell cultures from Rett syndrome patients

Ivan J Delgado, Dong Kim, Karen N Thatcher, Janine M LaSalle, Ignatia B Van den Veyver

Analysis of coding variants in the betacellulin gene in type 2 diabetes and insulin secretion in African American subjects

Steven C Elbein, Xiaoqin Wang, Mohammad A Karim, Winston S Chu, Kristi D Silver

N-acetyltransferase 2 (NAT2) gene polymorphisms in colon and lung cancer patients

Juergen Borlak, Stella Reamon-Buettner

Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects

Peter H Nissen, Dorte Damgaard, Anette Stenderup, Gitte G Nielsen, Mogens L Larsen, Ole F？rgeman

β2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus

Michele Pinelli, Manuela Giacchetti, Fabio Acquaviva, Sergio Cocozza, Giovanna Donnarumma, Emanuela Lapice, Gabriele Riccardi, Geremia Romano, Olga Vaccaro, Antonella Monticelli

BAC-FISH refutes report of an 8p22–8p23.1 inversion or duplication in 8 patients with Kabuki syndrome

Kendra W Kimberley, Colleen A Morris, Holly H Hobart

Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter

Marie Sogaard, Zeynep Tümer, Helle Hjalgrim, Johanne Hahnemann, Birgitte Friis, Paal Ledaal, Vibeke Pedersen, Peter Baekgaard, Niels Tommerup, Sultan Cing？z, Morten Duno, Karen Brondum-Nielsen

Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation

Chun-An Chen, Nelson LS Tang, Yin-Hsiu Chien, Wei-Min Zhang, Jou-Kou Wang, Wuh-Liang Hwu

Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data

Virginie Scotet, Gérald Le Gac, Marie-Christine Mérour, Anne-Yvonne Mercier, Brigitte Chanu, Chandran Ka, Catherine Mura, Jean-Baptiste Nousbaum, Claude Férec

Polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and susceptibility to pediatric acute lymphoblastic leukemia in a German study population

Eckart Schnakenberg, Andrea Mehles, Gunnar Cario, Klaus Rehe, Kathrin Seidemann, Brigitte Schlegelberger, Holger A Elsner, Karl H Welte, Martin Schrappe, Martin Stanulla

Spinocerebellar ataxia type 17: Report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes

Christine Zühlke, Andreas Dalski, Eberhard Schwinger, Ulrich Finckh

Association study of functional genetic variants of innate immunity related genes in celiac disease

B Rueda, A Zhernakova, MA López-Nevot, J Martín, BPC Koeleman

Sequence diversity within the HA-1 gene as detected by melting temperature assay without oligonucleotide probes

Claudio Graziano, Massimo Giorgi, Cecilia Malentacchi, Pier Mattiuz, Berardino Porfirio

Aging syndrome genes and premature coronary artery disease

Adrian F Low, Christopher J O'Donnell, Sekar Kathiresan, Brendan Everett, Claudia U Chae, Stanley Y Shaw, Patrick T Ellinor, Calum A MacRae

Cytogenetic abnormalities and fragile-x syndrome in Autism Spectrum Disorder

Kavita S Reddy

SMN1 dosage analysis in spinal muscular atrophy from India

Akanchha Kesari, Hanna Rennert, Debra GB Leonard, Balraj Mittal

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene

Monica L Stepp, A Lauren Cason, Merran Finnis, Marie Mangelsdorf, Elke Holinski-Feder, David Macgregor, Andrée MacMillan, Jeanette JA Holden, Jozef Gecz, Roger E Stevenson, Charles E Schwartz

Evaluation of SLC11A1 as an inflammatory bowel disease candidate gene

Nigel PS Crawford, Maurice R Eichenberger, Daniel W Colliver, Robert K Lewis, Gary A Cobbs, Robert E Petras, Susan Galandiuk

No evidence for the association of DRD4 with ADHD in a Taiwanese population within-family study

Keeley-Joanne Brookes, Xiaohui Xu, Chih-Ken Chen, Yu-Shu Huang, Yu-Yu Wu, Philip Asherson

The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures

Shaochun Ma, Bassel Abou-Khalil, James S Sutcliffe, Jonathan L Haines, Peter Hedera

Implication of the Pro12Ala polymorphism of the PPAR-gamma 2 gene in type 2 diabetes and obesity in the French population

Maya Ghoussaini, David Meyre, Stéphane Lobbens, Guillaume Charpentier, Karine Clément, Marie-Aline Charles, Ma？té Tauber, Jacques Weill, Philippe Froguel

The host response to the probiotic Escherichia coli strain Nissle 1917: Specific up-regulation of the proinflammatory chemokine MCP-1

Sya N Ukena, Astrid M Westendorf, Wiebke Hansen, Manfred Rohde, Robert Geffers, Sina Coldewey, Sebastian Suerbaum, Jan Buer, Florian Gunzer

The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency

Jean-Pierre Bayley, Peter Devilee, Peter EM Taschner

Polymorphisms of the Flavin containing monooxygenase 3 (FMO3) gene do not predispose to essential hypertension in Caucasians

Ciara Dolan, Denis C Shields, Alice Stanton, Eoin O'Brien, Deborah M Lambert, John K O'Brien, Eileen P Treacy

CYP3A4 and CYP3A5 genotyping by Pyrosequencing

Adam A Garsa, Howard L McLeod, Sharon Marsh

The Familial Intracranial Aneurysm (FIA) study protocol

Joseph P Broderick, Laura R Sauerbeck, Tatiana Foroud, John Huston, Nathan Pankratz, Irene Meissner, Robert D Brown

Detection of large deletions in the LDL receptor gene with quantitative PCR methods

Dorte Damgaard, Peter H Nissen, Lillian G Jensen, Gitte G Nielsen, Anette Stenderup, Mogens L Larsen, Ole Faergeman

Polymorphism screening and haplotype analysis of the tryptophan hydroxylase gene (TPH1) and association with bipolar affective disorder in Taiwan

Te-Jen Lai, Chia-Yen Wu, Hsu-Wen Tsai, Yi-Mei J Lin, H Sunny Sun

Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension

Tuula Hannila-Handelberg, Kimmo Kontula, Ilkka Tikkanen, Tuula Tikkanen, Frej Fyhrquist, Karri Helin, Heidi Fodstad, Kirsi Piippo, Helena E Miettinen, Jarmo Virtamo, Tom Krusius, Seppo Sarna, Ivan Gautschi, Laurent Schild, Timo P Hiltunen

Go




©2008-2020 OALib, Inc | Public user content licensed CC-BY 4.0 unless otherwise specified. OALib ISSN Online: 2333-9721 OALib ISSN Print: 2333-9705