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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Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)

Kim M Keppler-Noreuil, Catherine Blumhorst, Julie C Sapp, Danielle Brinckman, Jennifer Johnston, Peggy C Nopoulos, Leslie G Biesecker

Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations

Nelson Lopez Jimenez, Jason Flannick, Mani Yahyavi, Jiang Li, Tanya Bardakjian, Leath Tonkin, Adele Schneider, Elliott H Sherr, Anne M Slavotinek

Antiretroviral treatment-induced dyslipidemia in HIV-infected patients is influenced by the APOC3-related rs10892151 polymorphism

Gerard Aragonès, Carlos Alonso-Villaverde, Pedro Pardo-Reche, Anna Rull, Raúl Beltrán-Debón, Esther Rodríguez-Gallego, Laura Fernández-Sender, Jordi Camps, Jorge Joven

The role of the fat mass and obesity associated gene (FTO) in breast cancer risk

Virginia Kaklamani, Nengjun Yi, Maureen Sadim, Kalliopi Siziopikou, Kui Zhang, Yanfei Xu, Sarah Tofilon, Surbhi Agarwal, Boris Pasche, Christos Mantzoros

Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutation

Hideki Mutai, Hiroko Kouike, Eiko Teruya, Ikuko Takahashi-Kodomari, Hiroki Kakishima, Hidenobu Taiji, Shin-ichi Usami, Torayuki Okuyama, Tatsuo Matsunaga

Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome

Chiara Conte, Maria D'Apice, Fabrizio Rinaldi, Stefano Gambardella, Federica Sangiuolo, Giuseppe Novelli

Evidence of association with type 1 diabetes in the SLC11A1 gene region

Jennie HM Yang, Kate Downes, Joanna MM Howson, Sarah Nutland, Helen E Stevens, Neil M Walker, John A Todd

Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification

Larissa V Furtado, Whitney Wooderchak-Donahue, Alan F Rope, Angela T Yetman, Tracey Lewis, Parker Plant, Pinar Bayrak-Toydemir

Geographic differences in allele frequencies of susceptibility SNPs for cardiovascular disease

Keyue Ding, Iftikhar J Kullo

Association of kynurenine aminotransferase II gene C401T polymorphism with immune response in patients with meningitis

Fladjule de Souza, Fabrícia Fontes, Thayse da Silva, Leonam Coutinho, Stephen L Leib, Lucymara Agnez-Lima

Replication of LDL GWAs hits in PROSPER/PHASE as validation for future (pharmaco)genetic analyses

Stella Trompet, Anton JM de Craen, Iris Postmus, Ian Ford, Naveed Sattar, Muriel Caslake, David J Stott, Brendan M Buckley, Frank Sacks, James J Devlin, P Slagboom, Rudi GJ Westendorp, J Jukema, the PROSPER study group

Rapid screening for chromosomal aneuploidies using array-MLPA

Jing-Bin Yan, Miao Xu, Can Xiong, Da-Wen Zhou, Zhao-Rui Ren, Ying Huang, Monique Mommersteeg, Rinie van Beuningen, Ying-Tai Wang, Shi-Xiu Liao, Fanyi Zeng, Ying Wu, Yi-Tao Zeng

Investigation of 95 variants identified in a genome-wide study for association with mortality after acute coronary syndrome

Thomas M Morgan, John A House, Sharon Cresci, Philip Jones, Hooman Allayee, Stanley L Hazen, Yesha Patel, Riyaz S Patel, Danny J Eapen, Salina P Waddy, Arshed A Quyyumi, Marcus E Kleber, Winfried M？rz, Bernhard R Winkelmann, Bernhard O Boehm, Harlan M Krumholz, John A Spertus

Associations of common polymorphisms in GCKR with type 2 diabetes and related traits in a Han Chinese population: a case-control study

Yan Ling, Xiaomu Li, Qian Gu, Hongyan Chen, Daru Lu, Xin Gao

Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as candidate susceptibility factors for the type 1 diabetes in the Estonian population

Konstantinos Douroudis, Kalle Kisand, Virge Nemvalts, Tarvo Rajasalu, Raivo Uibo

Mannose-binding lectin genotypes: lack of association with susceptibility to thoracic empyema

Stephen J Chapman, Fredrik O Vannberg, Chiea C Khor, Anna Rautanen, Nicholas A Maskell, Christopher WH Davies, Catrin E Moore, Nicholas P Day, Derrick W Crook, Robert JO Davies, Adrian VS Hill

Frequency of Fabry disease in male and female haemodialysis patients in Spain

Paulo Gaspar, Julio Herrera, Daniel Rodrigues, Sebastián Cerezo, Rodrigo Delgado, Carlos F Andrade, Ramón Forascepi, Juan Macias, Maria D del Pino, Maria D Prados, Pilar R de Alegria, Gerardo Torres, Pedro Vidau, Maria C Sá-Miranda

Hypervariable intronic region in NCX1 is enriched in short insertion-deletion polymorphisms and showed association with cardiovascular traits

Katrin Kepp, Elin Org, Siim S？ber, Piret Kelgo, Margus Viigimaa, Gudrun Veldre, Neeme T？nisson, Peeter Juhanson, Margus Putku, Andreas Kindmark, Viktor Ko？ich, Maris Laan

Impact of gene variants on sex-specific regulation of human Scavenger receptor class B type 1 (SR-BI) expression in liver and association with lipid levels in a population-based study

Ornit Chiba-Falek, Marshall Nichols, Sunil Suchindran, John Guyton, Geoffrey S Ginsburg, Elizabeth Barrett-Connor, Jeanette J McCarthy

A gene-wide investigation on polymorphisms in the taste receptor 2R14 (TAS2R14) and susceptibility to colorectal cancer

Daniele Campa, Pavel Vodicka, Barbara Pardini, Alessio Naccarati, Maura Carrai, Ludmila Vodickova, Jan Novotny, Kari Hemminki, Asta F？rsti, Roberto Barale, Federico Canzian

Modeling complex genetic and environmental influences on comorbid bipolar disorder with tobacco use disorder

Richard C McEachin, Nancy L Saccone, Scott F Saccone, Yelena D Kleyman-Smith, Tiara Kar, Rajesh K Kare, Alex S Ade, Maureen A Sartor, James D Cavalcoli, Melvin G McInnis

Sex-differential genetic effect of phosphodiesterase 4D (PDE4D) on carotid atherosclerosis

Yi-Chu Liao, Hsiu-Fen Lin, Yuh-Cherng Guo, Ming-Lung Yu, Ching-Kuan Liu, Suh-Hang Juo

Haplotypes of intron 4 of the estrogen receptor alpha gene and hip fractures: a replication study in Caucasians

Javier Velasco, José L Hernández, José L Pérez-Castrillón, María T Zarrabeitia, María A Alonso, Jesús González-Macías, José A Riancho

Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts

Phillip J Whiley, Christopher A Pettigrew, Brooke L Brewster, Logan C Walker, kConFab Investigators, Amanda B Spurdle, Melissa A Brown

Common polymorphisms of calpain-10 and the risk of Type 2 Diabetes in a Tunisian Arab population: a case-control study

Intissar Ezzidi, Amira Turki, Safia Messaoudi, Molka Chaieb, Maha Kacem, Ghada M Al-Khateeb, Touhami Mahjoub, Wassim Y Almawi, Nabil Mtiraoui

Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation

Ye Wu, Taoyun Ji, Jingmin Wang, Jing Xiao, Huifang Wang, Jie Li, Zhijie Gao, Yanling Yang, Bin Cai, Liwen Wang, Zhongshu Zhou, Lili Tian, Xiaozhu Wang, Nan Zhong, Jiong Qin, Xiru Wu, Yuwu Jiang

Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis

Alessandra Ferlini, Matteo Bovolenta, Marcella Neri, Francesca Gualandi, Alessandra Balboni, Anton Yuryev, Fabrizio Salvi, Donato Gemmati, Alberto Liboni, Paolo Zamboni

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

Isabelle Audo, Kinga Bujakowska, Saddek Mohand-Sa？d, Marie-Elise Lancelot, Veselina Moskova-Doumanova, Naushin H Waseem, Aline Antonio, José-Alain Sahel, Shomi S Bhattacharya, Christina Zeitz

A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation

Khaled K Abu-Amero, Ali M Hellani, Mustafa A Salih, Mohammad Z Seidahmed, Tageldin S Elmalik, Ghassan Zidan, Thomas M Bosley

A six-generation Chinese family in haplogroup B4C1C exhibits high penetrance of 1555A > G-induced hearing Loss

Yan Bai, Zhengmin Wang, Wenjia Dai, Qingzhong Li, Guoling Chen, Ning Cong, Minxin Guan, Huawei Li

Replication of the association of chromosomal region 9p21.3 with generalized aggressive periodontitis (gAgP) using an independent case-control cohort

Florian D Ernst, Katharina Uhr, Alexander Teumer, Jutta Fangh？nel, Susanne Schulz, Barbara Noack, Jose Gonzales, Stefan Reichert, Peter Eickholz, Birte Holtfreter, Peter Meisel, Gerard J Linden, Georg Homuth, Thomas Kocher

Effects of MCF2L2, ADIPOQ and SOX2 genetic polymorphisms on the development of nephropathy in type 1 Diabetes Mellitus

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

FOXP2 gene and language impairment in schizophrenia: association and epigenetic studies

Amparo Tolosa, Julio Sanjuán, Adam M Dagnall, María D Moltó, Neus Herrero, Rosa de Frutos

Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls

Richard Delorme, Catalina Betancur, Isabelle Scheid, Henrik Anckars？ter, Pauline Chaste, Stéphane Jamain, Franck Schuroff, Gudrun Nygren, Evelyn Herbrecht, Anne Dumaine, Marie Mouren, Maria R？stam, Marion Leboyer, Christopher Gillberg, Thomas Bourgeron

Application of a target array Comparative Genomic Hybridization to prenatal diagnosis

Ji Hyeon Park, Jung Hoon Woo, Sung Han Shim, Song-Ju Yang, Young Min Choi, Kap-Seok Yang, Dong Hyun Cha

The association of the Clock 3111 T/C SNP with lipids and lipoproteins including small dense low-density lipoprotein: results from the Mima study

Kokoro Tsuzaki, Kazuhiko Kotani, Yoshiko Sano, Shinji Fujiwara, Kaoru Takahashi, Naoki Sakane

Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY)

Trine W Boesgaard, Stepanka Pruhova, Ehm A Andersson, Ondrej Cinek, Barbora Obermannova, Jeannet Lauenborg, Peter Damm, Regine Bergholdt, Flemming Pociot, Charlotta Pisinger, Fabrizio Barbetti, Jan Lebl, Oluf Pedersen, Torben Hansen

Genetic modifiers of Hb E/β0 thalassemia identified by a two-stage genome-wide association study

Richard Sherva, Orapan Sripichai, Kenneth Abel, Qianli Ma, Johanna Whitacre, Vach Angkachatchai, Wattanan Makarasara, Pranee Winichagoon, Saovaros Svasti, Suthat Fucharoen, Andreas Braun, Lindsay A Farrer

Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies

Matteo Bovolenta, Marcella Neri, Elena Martoni, Anna Urciuolo, Patrizia Sabatelli, Marina Fabris, Paolo Grumati, Eugenio Mercuri, Enrico Bertini, Luciano Merlini, Paolo Bonaldo, Alessandra Ferlini, Francesca Gualandi

No association of the polymorphisms of the frizzled-related protein gene with peak bone mineral density in Chinese nuclear families

Gao Gao, Zhen-Lin Zhang, Jin-Wei He, Hao Zhang, Hua Yue, Wei-Wei Hu, Jie-Mei Gu, Wen-Zhen Fu, Yun-Qiu Hu, Miao Li, Yu-Juan Liu, Jin-Bo Yu

Mutation screen and association studies for the fatty acid amide hydrolase (FAAH) gene and early onset and adult obesity

Timo D Müller, Günter Br？nner, Melanie Wandolski, Jophia Carrie, Trang T Nguyen, Brandon H Greene, André Scherag, Harald Grallert, Carla IG Vogel, Susann Scherag, Winfried Rief, Hans-Erich Wichmann, Thomas Illig, Helmut Sch？fer, Johannes Hebebrand, Anke Hinney

Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis

Hui-Ling Xiong, Jin-Yang Wang, Yi-Min Sun, Jian-Jun Wu, Yan Chen, Kai Qiao, Qiao-Juan Zheng, Gui-xian Zhao, Zhi-Ying Wu

Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease

Astrid Rasmussen, Elisa Alonso, Adriana Ochoa, Irene De Biase, Itziar Familiar, Petra Yescas, Ana-Luisa Sosa, Yaneth Rodríguez, Mireya Chávez, Marisol López-López, Sanjay I Bidichandani

Association analysis of ADPRT1, AKR1B1, RAGE, GFPT2 and PAI-1 gene polymorphisms with chronic renal insufficiency among Asian Indians with type-2 diabetes

Pushplata Prasad, Arun K Tiwari, KM Prasanna Kumar, AC Ammini, Arvind Gupta, Rajeev Gupta, BK Thelma

Associations between genetic variations in the FURIN gene and hypertension

Nanfang Li, Wenli Luo, Zhang Juhong, Jin Yang, Hongmei Wang, Ling Zhou, Jianhang Chang

Genetic variants associated with fasting blood lipids in the U.S. population: Third National Health and Nutrition Examination Survey

Man-huei Chang, Ajay Yesupriya, Renée M Ned, Patricia W Mueller, Nicole F Dowling

Important role of indels in somatic mutations of human cancer genes

Haiwang Yang, Yan Zhong, Cheng Peng, Jian-Qun Chen, Dacheng Tian

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