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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Genetic and functional association of FAM5C with myocardial infarction

Jessica J Connelly, Svati H Shah, Jennifer F Doss, Shera Gadson, Sarah Nelson, David R Crosslin, A Brent Hale, Xuemei Lou, Ty Wang, Carol Haynes, David Seo, David C Crossman, Vincent Mooser, Christopher B Granger, Christopher JH Jones, William E Kraus, Elizabeth R Hauser, Simon G Gregory

Distribution of the FYBES and RHCE*ce(733C>G) alleles in an Argentinean population: Implications for transfusion medicine

Carlos M Cotorruelo, Silvana V Fiori, Silvia Borrás, Liliana L Racca, Claudia S Biondi, Amelia L Racca

Effects of interacting networks of cardiovascular risk genes on the risk of type 2 diabetes mellitus (the CODAM study)

Marleen MJ van Greevenbroek, Jian Zhang, Carla JH Kallen, Paul MH Schiffers, Edith JM Feskens, Tjerk WA de Bruin

Methylation of class II transactivator gene promoter IV is not associated with susceptibility to Multiple Sclerosis

Sreeram V Ramagopalan, David A Dyment, Katie M Morrison, Blanca M Herrera, Gabriele C DeLuca, Matthew R Lincoln, Sarah M Orton, Lahiru Handunnetthi, Michael J Chao, A Dessa Sadovnick, George C Ebers

The estrogen hypothesis of Schizophrenia implicates glucose metabolism: Association study in three independent samples

Line Olsen, Thomas Hansen, Klaus D Jakobsen, Srdjan Djurovic, Ingrid Melle, Ingrid Agartz, Haakan Hall, Henrik Ullum, Sally Timm, August G Wang, Erik G J？nsson, Ole A Andreassen, Thomas Werge

Association of the 894G>T polymorphism in the endothelial nitric oxide synthase gene with risk of acute myocardial infarction

George K Andrikopoulos, Dimitris K Grammatopoulos, Stylianos E Tzeis, Sevasti I Zervou, Dimitris J Richter, Michalis N Zairis, Elias J Gialafos, Dimitris C Sakellariou, Stefanos G Foussas, Antonis S Manolis, Christodoulos I Stefanadis, Pavlos K Toutouzas, Edward W Hillhouse, The GEMIG study investigators

Polymorphisms near EXOC4 and LRGUK on chromosome 7q32 are associated with Type 2 Diabetes and fasting glucose; The NHLBI Family Heart Study

Jason M Laramie, Jemma B Wilk, Sally L Williamson, Michael W Nagle, Jeanne C Latourelle, Jennifer E Tobin, Michael A Province, Ingrid B Borecki, Richard H Myers

Evaluation of the association between the common E469K polymorphism in the ICAM-1 gene and diabetic nephropathy among type 1 diabetic patients in GoKinD population

Jun Ma, Dongying Zhang, Kerstin Brismar, Suad Efendic, Harvest F Gu

Impact of estrogen receptor gene polymorphisms and mRNA levels on obesity and lipolysis – a cohort study

Maria Nilsson, Ingrid Dahlman, Hong Jiao, Jan-？ke Gustafsson, Peter Arner, Karin Dahlman-Wright

Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis

Anne Philippi, Frédéric Tores, Jérome Carayol, Francis Rousseau, Mélanie Letexier, Elke Roschmann, Pierre Lindenbaum, Abdel Benajjou, Karine Fontaine, Céline Vazart, Philippe Gesnouin, Peter Brooks, J？rg Hager

Analysis of KLF transcription factor family gene variants in type 2 diabetes

Ruth Gutiérrez-Aguilar, Yamina Benmezroua, Emmanuel Vaillant, Beverley Balkau, Michel Marre, Guillaume Charpentier, Rob Sladek, Philippe Froguel, Bernadette Neve

Association analysis of chromosome 1 migraine candidate genes

Francesca Fernandez, Robert P Curtain, Natalie J Colson, Micky Ovcaric, John MacMillan, Lyn R Griffiths

Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly

Muhammad Hassan, Maryam Khurshid, Zahid Azeem, Peter John, Ghazanfar Ali, Muhammad Chishti, Wasim Ahmad

A comprehensive analysis of common genetic variation in prolactin (PRL) and PRL receptor (PRLR) genes in relation to plasma prolactin levels and breast cancer risk: the Multiethnic Cohort

Sulggi A Lee, Christopher A Haiman, Noel P Burtt, Loreall C Pooler, Iona Cheng, Laurence N Kolonel, Malcolm C Pike, David Altshuler, Joel N Hirschhorn, Brian E Henderson, Daniel O Stram

The Framingham Heart Study, on its way to becoming the gold standard for Cardiovascular Genetic Epidemiology?

Cashell E Jaquish

Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle

Randy J Chandler, Jennifer Sloan, Hong Fu, Matthew Tsai, Sally Stabler, Robert Allen, Klaus H Kaestner, Haig H Kazazian, Charles P Venditti

Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy

Annemieke Aartsma-Rus, Anneke AM Janson, Gert-Jan B van Ommen, Judith CT van Deutekom

Mechanistic role of a disease-associated genetic variant within the ADAM33 asthma susceptibility gene

Richard G Del Mastro, Laura Turenne, Heidi Giese, Tim P Keith, Paul Van Eerdewegh, Klaus JW May, Randall D Little

Lack of increases in methylation at three CpG-rich genomic loci in non-mitotic adult tissues during aging

Michelle W Chu, Kimberly D Siegmund, Carrie L Eckstam, Jung Kim, Allen S Yang, Gary C Kanel, Simon Tavaré, Darryl Shibata

Resequencing PNMT in European hypertensive and normotensive individuals: no common susceptibilily variants for hypertension and purifying selection on intron 1

Katrin Kepp, Peeter Juhanson, Viktor Kozich, Mai Ots, Margus Viigimaa, Maris Laan

Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes

Ritesh Kaushal, Daniel Woo, Prodipto Pal, Mary Haverbusch, Huifeng Xi, Charles Moomaw, Padmini Sekar, Brett Kissela, Dawn Kleindorfer, Matthew Flaherty, Laura Sauerbeck, Ranajit Chakraborty, Joseph Broderick, Ranjan Deka

Gene sequence variations of the platelet P2Y12 receptor are associated with coronary artery disease

Ugo Cavallari, Elisabetta Trabetti, Giovanni Malerba, Michele Biscuola, Domenico Girelli, Oliviero Olivieri, Nicola Martinelli, Dominick J Angiolillo, Roberto Corrocher, Pier Pignatti

Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects

Jitka Stekrova, Martina Sulova, Vera Kebrdlova, Katerina Zidkova, Jaroslav Kotlas, Denisa Ilencikova, Kamila Vesela, Milada Kohoutova

Effective quantitative real-time polymerase chain reaction analysis of the parkin gene (PARK2) exon 1–12 dosage

Maria I Shadrina, Elena V Semenova, Petr A Slominsky, Gulbahar H Bagyeva, Sergei N Illarioshkin, Irina I Ivanova-Smolenskaia, Svetlana A Limborska

SOD2 polymorphisms: unmasking the effect of polymorphism on splicing

Jing Shao, Lishan Chen, Brian Marrs, Lin Lee, Hai Huang, Kenneth G Manton, George M Martin, Junko Oshima

Transient trimethylaminuria related to menstruation

Makiko Shimizu, John R Cashman, Hiroshi Yamazaki

Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels

María E Sáez, María T Martínez-Larrad, Reposo Ramírez-Lorca, José L González-Sánchez, Carina Zabena, María J Martinez-Calatrava, Alejandro González, Francisco J Morón, Agustín Ruiz, Manuel Serrano-Ríos

CD209 in inflammatory bowel disease: a case-control study in the Spanish population

Concepción Nú？ez, Javier Oliver, Juan Mendoza, María Gómez-García, Carlos Taxonera, Luis M Gómez, Miguel A López-Nevot, Emilio G de la Concha, Elena Urcelay, Alfonso Martínez, Javier Martín

Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report

Maria Miano, Carmela Laperuta, Pietro Chiurazzi, Michele D'Urso, Matilde Ursini

Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay

Marko Cukjati, Toma？ Vaupoti？, Ruth Rupreht, Vladka ？urin-？erbec

Respiratory symptoms among infants at risk for asthma: association with surfactant protein A haplotypes

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

Large genomic rearrangements in the CFTR gene contribute to CBAVD

Magali Taulan, Anne Girardet, Caroline Guittard, Jean-Pierre Altieri, Carine Templin, Christophe Beroud, Marie des Georges, Mireille Claustres

Polymorphism of the FABP2 gene: a population frequency analysis and an association study with cardiovascular risk markers in Argentina

Laura C Gomez, Sebastián M Real, Marta S Ojeda, Sergio Gimenez, Luis S Mayorga, María Roqué

TCF7L2 rs7903146 variant does not associate with smallness for gestational age in the French population

Stéphane Cauchi, David Meyre, Hélène Choquet, Samia Deghmoun, Emmanuelle Durand, Stefan Gaget, Cécile Lecoeur, Philippe Froguel, Claire Levy-Marchal

The impact of the Catechol-O-methyltransferase Val158Met polymorphism on survival in the general population – the HUNT study

Knut Hagen, Lars J Stovner, Frank Skorpen, Elin Pettersen, John-Anker Zwart

Cost-utility analysis of genetic screening in families of patients with germline MUTYH mutations

Maartje Nielsen, Frederik J Hes, Hans FA Vasen, Wilbert B van den Hout

Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families

Sandra Filippini, Ana Blanco, Ana Fernández-Marmiesse, Vanesa álvarez-Iglesias, Clara Ruíz-Ponte, ángel Carracedo, Ana Vega

MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene

Ester Ballana, Josep Mercader, Nathan Fischel-Ghodsian, Xavier Estivill

Association between the -455T>C promoter polymorphism of the APOC3 gene and the metabolic syndrome in a multi-ethnic sample

Rebecca L Pollex, Matthew R Ban, T Kue Young, Peter Bjerregaard, Sonia S Anand, Salim Yusuf, Bernard Zinman, Stewart B Harris, Anthony JG Hanley, Philip W Connelly, Murray W Huff, Robert A Hegele

High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic

Petra Vasickova, Eva Machackova, Miroslava Lukesova, Jiri Damborsky, Ondrej Horky, Hana Pavlu, Jitka Kuklova, Veronika Kosinova, Marie Navratilova, Lenka Foretova

Association between CFL1 gene polymorphisms and spina bifida risk in a California population

Huiping Zhu, James Enaw, Chen Ma, Gary M Shaw, Edward J Lammer, Richard H Finnell

Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib

Lilia L Bi, George Pan, T Prescott Atkinson, Lixin Zheng, Janet K Dale, Christopher Makris, Vishnu Reddy, Jay M McDonald, Richard M Siegel, Jennifer M Puck, Michael J Lenardo, Stephen E Straus

Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes

Ravinesh A Kumar, David B Everman, Chad T Morgan, Anne Slavotinek, Charles E Schwartz, Elizabeth M Simpson

CT60 genotype does not affect CTLA-4 isoform expression despite association to T1D and AITD in northern Sweden

Sofia Mayans, Kurt Lackovic, Caroline Nyholm, Petter Lindgren, Karin Ruikka, Mats Eliasson, Corrado M Cilio, Dan Holmberg

The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure

Monica Rossi, Enzo Ricci, Luca Colantoni, Giuliana Galluzzi, Roberto Frusciante, Pietro A Tonali, Luciano Felicetti

Resequencing of genes for transforming growth factor β1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy

Amy McKnight, David A Savage, Chris C Patterson, Denise Sadlier, A Peter Maxwell

Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre

Joo Wook Ahn, Caroline Mackie Ogilvie, Alysia Welch, Helen Thomas, Rajiv Madula, Alison Hills, Celia Donaghue, Kathy Mann

Interactions between the adducin 2 gene and antihypertensive drug therapies in determining blood pressure in people with hypertension

Sharon LR Kardia, Yan V Sun, Sara C Hamon, Ruth Barkley, Eric Boerwinkle, Stephen T Turner

Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences

Sajid Malik, KM Girisha, Muhammad Wajid, Akhilesh K Roy, Shubha R Phadke, Sayedul Haque, Wasim Ahmad, Manuela C Koch, Karl-Heinz Grzeschik

Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly

Joseph D Buxbaum, Guiqing Cai, Gudrun Nygren, Pauline Chaste, Richard Delorme, Juliet Goldsmith, Maria R？stam, Jeremy M Silverman, Eric Hollander, Christopher Gillberg, Marion Leboyer, Catalina Betancur

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