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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Genome-wide association study identifies single-nucleotide polymorphism in KCNB1 associated with left ventricular mass in humans: The HyperGEN Study

Donna K Arnett, Na Li, Weihong Tang, Dabeeru C Rao, Richard B Devereux, Steven A Claas, Rachel Kraemer, Ulrich Broeckel

Rapid diagnosis of spinal muscular atrophy using High-Resolution Melting Analysis

Wan Chen, Wan Dong, Xiao Lin, Min Lin, Shen Murong, Zhi Wu, Ning Wang

ACE (I/D) polymorphism and response to treatment in coronary artery disease: a comprehensive database and meta-analysis involving study quality evaluation

Georgios Kitsios, Elias Zintzaras

PPARγ Pro12Ala polymorphism and risk of acute coronary syndrome in a prospective study of Danes

Ulla Vogel, Stine Segel, Claus Dethlefsen, Anne Tj？nneland, Anne Saber, H？kan Wallin, Majken K Jensen, Erik B Schmidt, Paal Andersen, Kim Overvad

Homozygosity and risk of childhood death due to invasive bacterial disease

Emily J Lyons, William Amos, James A Berkley, Isaiah Mwangi, Mohammed Shafi, Thomas N Williams, Charles R Newton, Norbert Peshu, Kevin Marsh, J Anthony G Scott, Adrian VS Hill

Association between ACE gene I/D polymorphisms and hyperandrogenism in women with Polycystic Ovary Syndrome (PCOS) and controls

Jing sun, Haijian fan, Yena Che, Yunxia Cao, Xiaoke Wu, Hai-xiang Sun, Fengjing Liang, Long Yi, Yong Wang

Identification of a pleiotropic locus on chromosome 7q for a composite left ventricular wall thickness factor and body mass index: the HyperGEN Study

Weihong Tang, Richard B Devereux, Na Li, Albert Oberman, Dalane W Kitzman, Dabeeru C Rao, Paul N Hopkins, Steven A Claas, Donna K Arnett

The first Dutch SDHB founder deletion in paraganglioma – pheochromocytoma patients

Jean-Pierre Bayley, Anneliese EM Grimbergen, Patrick A van Bunderen, Michiel van der Wielen, Henricus P Kunst, Jacques W Lenders, Jeroen C Jansen, Robin PF Dullaart, Peter Devilee, Eleonora P Corssmit, Annette H Vriends, Monique Losekoot, Marjan M Weiss

Association of hypoxia inducible factor-1 alpha gene polymorphism with both type 1 and type 2 diabetes in a Caucasian (Hungarian) sample

Geza Nagy, Reka Kovacs-Nagy, Eva Kereszturi, Aniko Somogyi, Anna Szekely, Nora Nemeth, Nora Hosszufalusi, Pal Panczel, Zsolt Ronai, Maria Sasvari-Szekely

A mitotic recombination map proximal to the APC locus on chromosome 5q and assessment of influences on colorectal cancer risk

Kimberley Howarth, Susanna Ranta, Eitan Winter, Ana Teixeira, Helmut Schaschl, John J Harvey, Andrew Rowan, Angela Jones, Sarah Spain, Susan Clark, Thomas Guenther, Aengus Stewart, Andrew Silver, Ian Tomlinson

Constitutive RB1 mutation in a child conceived by in vitro fertilization: implications for genetic counseling

Raquel H Barbosa, Fernando R Vargas, Evandro Lucena, Cibele R Bonvicino, Héctor N Seuánez

Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

Delphine Fauvert, Isabelle Brun-Heath, Anne-Sophie Lia-Baldini, Linda Bellazi, Agnès Taillandier, Jean-Louis Serre, Philippe de Mazancourt, Etienne Mornet

Functional analysis of the C-reactive protein (CRP) gene -717A>G polymorphism associated with coronary heart disease

Laiyuan Wang, Xiangfeng Lu, Yun Li, Hongfan Li, Shufeng Chen, Dongfeng Gu

Functional polymorphism of the NFKB1 gene promoter is related to the risk of dilated cardiomyopathy

Bin Zhou, Li Rao, Ying Peng, Yanyun Wang, Yi Li, Linbo Gao, Yu Chen, Hui Xue, Yaping Song, Miao Liao, Lin Zhang

Mutations in STK11 gene in Czech Peutz-Jeghers patients

Peter Vasov？ák, Alena Puchmajerová, Jan Roubalík, Anna K？epelová

Lack of association between polymorphisms of the IL18R1 and IL18RAP genes and cardiovascular risk: the MORGAM Project

Marie-Lise Grisoni, Carole Proust, Mervi Alanne, Maylis DeSuremain, Veikko Salomaa, Kari Kuulasmaa, Fran？ois Cambien, Viviane Nicaud, Per-Gunnar Wiklund, Jarmo Virtamo, Frank Kee, Laurence Tiret, Alun Evans, David-Alexandre Tregouet

The INSIG2 rs7566605 genetic variant does not play a major role in obesity in a sample of 24,722 individuals from four cohorts

Jan Bressler, Myriam Fornage, Craig L Hanis, Wen Kao, Cora E Lewis, Ruth McPherson, Robert Dent, Thomas H Mosley, Len A Pennacchio, Eric Boerwinkle

Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations

Evelina Mocci, Maria P Concas, Manuela Fanciulli, Nicola Pirastu, Mauro Adamo, Valentina Cabras, Cristina Fraumene, Ivana Persico, Alessandro Sassu, Andrea Picciau, Dionigio A Prodi, Donatella Serra, Ginevra Biino, Mario Pirastu, Andrea Angius

Influences of polymorphic variants of DRD2 and SLC6A3 genes, and their combinations on smoking in Polish population

Alicja Sieminska, Krzysztof Buczkowski, Ewa Jassem, Marek Niedoszytko, Ewa Tkacz

Low frequency of the TIRAP S180L polymorphism in Africa, and its potential role in malaria, sepsis, and leprosy

Lutz Hamann, Oliver Kumpf, Ron P Schuring, Erkan Alpsoy, George Bedu-Addo, Ulrich Bienzle, Linda Oskam, Frank P Mockenhaupt, Ralf R Schumann

Common polymorphisms within the NR4A3 locus, encoding the orphan nuclear receptor Nor-1, are associated with enhanced β-cell function in non-diabetic subjects

Peter Weyrich, Harald Staiger, Alena Stan？áková, Silke A Sch？fer, Kerstin Kirchhoff, Susanne Ullrich, Felicia Ranta, Baptist Gallwitz, Norbert Stefan, Fausto Machicao, Johanna Kuusisto, Markku Laakso, Andreas Fritsche, Hans-Ulrich H？ring

Rapid detection of the CYP2A6*12 hybrid allele by Pyrosequencing？ technology

Deborah A Koontz, Jacqueline J Huckins, Antonina Spencer, Margaret L Gallagher

OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background

Denis Pierron, Marc Ferré, Christophe Rocher, Arnaud Chevrollier, Pascal Murail, Didier Thoraval, Patrizia Amati-Bonneau, Pascal Reynier, Thierry Letellier

Novel quantitative trait locus is mapped to chromosome 12p11 for left ventricular mass in Dominican families: the Family Study of Stroke Risk and Carotid Atherosclerosis

Liyong Wang, Ashley Beecham, Marco R Di Tullio, Susan Slifer, Susan H Blanton, Tatjana Rundek, Ralph L Sacco

Evidence for an association of HLA-DRB115 and DRB109 with leprosy and the impact of DRB1*09 on disease onset in a Chinese Han population

Furen Zhang, Hong Liu, Shumin Chen, Changyuan Wang, Chuanfu Zhu, Lin Zhang, Tongsheng Chu, Dianchang Liu, Xiaoxiao Yan, Jianjun Liu

STK39 polymorphisms and blood pressure: an association study in British Caucasians and assessment of cis-acting influences on gene expression

Michael S Cunnington, Chris Kay, Peter J Avery, Bongani M Mayosi, Mauro Koref, Bernard Keavney

Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

Tanya M Bardakjian, Adele S Schneider, David Ng, Jennifer J Johnston, Leslie G Biesecker

Association of a functional microsatellite within intron 1 of the BMP5 gene with susceptibility to osteoarthritis

James M Wilkins, Lorraine Southam, Zehra Mustafa, Kay Chapman, John Loughlin

The promoter polymorphism -232C/G of the PCK1 gene is associated with type 2 diabetes in a UK-resident South Asian population

Simon D Rees, Abigail C Britten, Srikanth Bellary, J Paul O'Hare, Sudhesh Kumar, Anthony H Barnett, M Ann Kelly

Analysis of TACI mutations in CVID & RESPI patients who have inherited HLA B44 or HLAB8

Manda L Waldrep, Yingxin Zhuang, Harry W Schroeder

Two-stage case-control association study of dopamine-related genes and migraine

Roser Corominas, Marta Ribases, Montserrat Cami？a, Ester Cuenca-León, Julio Pardo, Susana Boronat, María-Jesús Sobrido, Bru Cormand, Alfons Macaya

Suggestive linkage detected for blood pressure related traits on 2q and 22q in the population on the Samoan islands

Karolina ？berg, Feng Dai, Satupaitea Viali, John Tuitele, Guangyun Sun, Subba R Indugula, Ranjan Deka, Daniel E Weeks, Stephen T McGarvey

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients

Cibele Masotti, Camila C Ornelas, Alessandra Splendore-Gordonos, Ricardo Moura, Têmis M Félix, Nivaldo Alonso, Anamaria A Camargo, Maria Passos-Bueno

The neck-region polymorphism of DC-SIGNR in peri-centenarian from Han Chinese Population

Hui Li, Cheng-Ye Wang, Jia-Xin Wang, Nelson Tang, Liang Xie, Yuan-Ying Gong, Zhao Yang, Liang-You Xu, Qing-Peng Kong, Ya-Ping Zhang

PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism

Matthew T Bishop, Catherine Pennington, Craig A Heath, Robert G Will, Richard SG Knight

Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients

Valeria Palumbo, Ludovica Segat, Lara Padovan, Antonio Amoroso, Bruno Trimarco, Raffaele Izzo, Giuseppe Lembo, Vera Regitz–Zagrosek, Ralph Knoll, Mara Brancaccio, Guido Tarone, Sergio Crovella

Association of ADAM33 gene polymorphisms with COPD in a northeastern Chinese population

Xinyan Wang, Lei Li, Jinling Xiao, Chengzhen Jin, Kun Huang, Xiaowen Kang, Xiaomei Wu, Fuzhen Lv

Identification of a novel functional deletion variant in the 5'-UTR of the DJ-1 gene

Rowena J Keyser, Lize van der Merwe, Mauritz Venter, Craig Kinnear, Louise Warnich, Jonathan Carr, Soraya Bardien

Association of DRD4 uVNTR and TP53 codon 72 polymorphisms with schizophrenia: a case-control study

For-Wey Lung, Bih-Ching Shu, Wei-Tsung Kao, C Nathan Chen, Yu-Chi Ku, Dong-Sheng Tzeng

Telomere shortening may be associated with human keloids

Bruna De Felice, Robert R Wilson, Massimo Nacca

Association between CYP19 gene SNP rs2414096 Polymorphism and polycystic ovary syndrome in Chinese women

Jia-Li Jin, Jing Sun, Hui-Juan Ge, Yun-Xia Cao, Xiao-Ke Wu, Feng-Jing Liang, Hai-Xiang Sun, Lu Ke, Long Yi, Zhi-Wei Wu, Yong Wang

Evaluating NAT2PRED for inferring the individual acetylation status from unphased genotype data

Audrey Sabbagh, Pierre Darlu, Michel Vidaud

Functional and genetic analysis in type 2 diabetes of Liver X receptor alleles – a cohort study

Ingrid Dahlman, Maria Nilsson, Harvest F Gu, Cecile Lecoeur, Suad Efendic, Claes G ？stenson, Kerstin Brismar, Jan-？ke Gustafsson, Philippe Froguel, Martine Vaxillaire, Karin Dahlman-Wright, Knut R Steffensen

Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study

Barbara Kofler, Edith E Mueller, Waltraud Eder, Olaf Stanger, Richard Maier, Martin Weger, Anton Haas, Robert Winker, Otto Schmut, Bernhard Paulweber, Bernhard Iglseder, Wilfried Renner, Martina Wiesbauer, Irene Aigner, Danijela Santic, Franz A Zimmermann, Johannes A Mayr, Wolfgang Sperl

Prevalence of pathogenetic MC4R mutations in Italian children with early Onset obesity, tall stature and familial history of obesity

Nicola Santoro, Grazia Cirillo, Zhimin Xiang, Rita Tanas, Nella Greggio, Giuseppe Morino, Lorenzo Iughetti, Alessandra Vottero, Alessandro Salvatoni, Mario Di Pietro, Antonio Balsamo, Antonino Crinò, Anna Grandone, Carrie Haskell-Luevano, Laura Perrone, Emanuele del Giudice

Genetic variants of the promoter of the heme oxygenase-1 gene and their influence on cardiovascular disease (The Ludwigshafen Risk and Cardiovascular Health Study)

Nicola Lüblinghoff, Karl Winkler, Bernhard R Winkelmann, Ursula Seelhorst, Britta Wellnitz, Bernhard O Boehm, Winfried M？rz, Michael M Hoffmann

Nitric oxide synthase 2A (NOS2A) polymorphisms are not associated with invasive pneumococcal disease

Antony Payton, Debbie Payne, Limangeni A Mankhambo, Daniel L Banda, C Anthony Hart, William ER Ollier, Enitan D Carrol

Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: A result of failed tetraploidy correction?

Gunnar Houge, Helle Lyb？k, Sasha Gulati

The mitochondrial DNA T16189C polymorphism and HIV-associated cardiomyopathy: a genotype-phenotype association study

Gasnat Shaboodien, Mark E Engel, Faisal F Syed, Joanna Poulton, Motasim Badri, Bongani M Mayosi

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