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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Single nucleotide polymorphisms in bone turnover-related genes in Koreans: ethnic differences in linkage disequilibrium and haplotype

Kyung-Seon Kim, Ghi-Su Kim, Joo-Yeon Hwang, Hye-Ja Lee, Mi-Hyun Park, Kwang-joong Kim, Jongsun Jung, Hyo-Soung Cha, Hyoung Shin, Jong-Ho Kang, Eui Park, Tae-Ho Kim, Jung-Min Hong, Jung-Min Koh, Bermseok Oh, Kuchan Kimm, Shin-Yoon Kim, Jong-Young Lee

Analysis of sequence variations in the suppressor of cytokine signaling (SOCS)-3 gene in extremely obese children and adolescents

Katja H？lter, Anne-Kathrin Wermter, André Scherag, Wolfgang Siegfried, Hanspeter Goldschmidt, Johannes Hebebrand, Anke Hinney

Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy

Atsushi Nishiyama, Yasuhiro Takeshima, Kayoko Saiki, Akiko Narukage, Yoshinobu Oyazato, Mariko Yagi, Masafumi Matsuo

Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications

Laura Torres-Juan, Jordi Rosell, Manuel Sánchez-de-la-Torre, Joan Fibla, Damià Heine-Su？er

The intron 4c allele of the NOS3 gene is associated with ischemic stroke in African Americans

RP Grewal, AVC Dutra, Yi C Liao, Ss H Juo, NIH Papamitsakis

Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol

Zari Dastani, Isabelle L Ruel, James C Engert, Jacques Genest, Michel Marcil

A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails

Shaohua Tang, Qiyu Xu, Xueqin Xu, Jicheng Du, Xuemei Yang, Yusheng Jiang, Xiaoqin Wang, Nancy Speck, Taosheng Huang

A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment

Hsun-Tien Tsai, Ying-Piao Wang, Shing-Fang Chung, Hung-Ching Lin, Guan-Min Ho, Min-Tsan Shu

Renin-angiotensin-aldosterone system polymorphisms: a role or a hole in occurrence and long-term prognosis of acute myocardial infarction at young age

Erica Franco, Luigi Palumbo, Francesca Crobu, Matteo Anselmino, Simone Frea, Giuseppe Matullo, Alberto Piazza, Gian Trevi, Serena Bergerone

Association of TGFβ1, TNFα, CCR2 and CCR5 gene polymorphisms in type-2 diabetes and renal insufficiency among Asian Indians

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

Screening of the transcriptional regulatory regions of vascular endothelial growth factor receptor 2 (VEGFR2) in amyotrophic lateral sclerosis

Alice Brockington, Beatrijs Wokke, Hannah Nixon, Judith Hartley, Pamela J Shaw

The effect of ABCA1 gene polymorphisms on ischaemic stroke risk and relationship with lipid profile

Alireza Pasdar, Ghasem Yadegarfar, Alastair Cumming, Lawrence Whalley, David St Clair, Mary-Joan MacLeod

Lack of association between the chemokine receptor 5 polymorphism CCR5delta32 in rheumatoid arthritis and juvenile idiopathic arthritis

Ewald Lindner, Gry BN Nordang, Espen Melum, Berit Flat？, Anne Selvaag, Erik Thorsby, Tore K Kvien, ？ystein T F？rre, Benedicte A Lie

Genetic mapping of a new heart rate QTL on chromosome 8 of spontaneously hypertensive rats

Gustavo JJ Silva, Alexandre C Pereira, Eduardo M Krieger, José E Krieger

Case-control and family-based association studies of candidate genes in autistic disorder and its endophenotypes: TPH2 and GLO1

Roberto Sacco, Veruska Papaleo, Jorg Hager, Francis Rousseau, Rainald Moessner, Roberto Militerni, Carmela Bravaccio, Simona Trillo, Cindy Schneider, Raun Melmed, Maurizio Elia, Paolo Curatolo, Barbara Manzi, Tiziana Pascucci, Stefano Puglisi-Allegra, Karl-Ludvig Reichelt, Antonio M Persico

Functional analysis of splicing mutations in exon 7 of NF1 gene

Irene Bottillo, Alessandro De Luca, Annalisa Schirinzi, Valentina Guida, Isabella Torrente, Stefano Calvieri, Cristina Gervasini, Lidia Larizza, Antonio Pizzuti, Bruno Dallapiccola

The TCF7L2 locus and type 1 diabetes

Hui-Qi Qu, Constantin Polychronakos

Secretory granule neuroendocrine protein 1 (SGNE1) genetic variation and glucose intolerance in severe childhood and adult obesity

Nabila Bouatia-Naji, Vincent Vatin, Cécile Lecoeur, Barbara Heude, Christine Proen？a, Jacques Veslot, Béatrice Jouret, Jean Tichet, Guillaume Charpentier, Michel Marre, Beverley Balkau, Philippe Froguel, David Meyre

Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets

ChaRandle Jordan, Hong Hua Li, Helen C Kwan, Uta Francke

MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions

Carmela Laperuta, Letizia Spizzichino, Pio D'Adamo, Jlenia Monfregola, Antonio Maiorino, Angela D'Eustacchio, Valerio Ventruto, Giovanni Neri, Michele D'Urso, Pietro Chiurazzi, Matilde Ursini, Maria Miano

PediDraw: A web-based tool for drawing a pedigree in genetic counseling

Min He, Wei Li

The D9N, N291S and S447X variants in the lipoprotein lipase (LPL) gene are not associated with Type III Hyperlipidemia

David Evans, Frank U Beil

Characterization of N-acetyltransferase 1 and 2 polymorphisms and haplotype analysis for inflammatory bowel disease and sporadic colorectal carcinoma

Suhal S Mahid, Daniel W Colliver, Nigel PS Crawford, Benjamin D Martini, Mark A Doll, David W Hein, Gary A Cobbs, Robert E Petras, Susan Galandiuk

The interactive role of type 2 diabetes mellitus and E-selectin S128R mutation on susceptibility to coronary heart disease

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

Mutations in the 3'-untranslated region of GATA4 as molecular hotspots for congenital heart disease (CHD)

Stella Reamon-Buettner, Si-Hyen Cho, Juergen Borlak

Effect of the 3'APOB-VNTR polymorphism on the lipid profiles in the Guangxi Hei Yi Zhuang and Han populations

Yin Ruixing, Chen Guangqin, Wang Yong, Lin Weixiong, Yang Dezhai, Pan Shangling

The candidate genes TAF5L, TCF7, PDCD1, IL6 and ICAM1 cannot be excluded from having effects in type 1 diabetes

Jason D Cooper, Deborah J Smyth, Rebecca Bailey, Felicity Payne, Kate Downes, Lisa M Godfrey, Jennifer Masters, Lauren R Zeitels, Adrian Vella, Neil M Walker, John A Todd

CADASIL in Arabs: clinical and genetic findings

Saeed Bohlega, Asmahan Al Shubili, Abdulrahman Edris, Abdulrahman Alreshaid, Thamer AlKhairallah, M Walid AlSous, Samir Farah, Khaled K Abu-Amero

Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro

Giorgia Beffagna, Marzia De Bortoli, Andrea Nava, Michela Salamon, Alessandra Lorenzon, Manuela Zaccolo, Luisa Mancuso, Luca Sigalotti, Barbara Bauce, Gianluca Occhi, Cristina Basso, Gerolamo Lanfranchi, Jeffrey A Towbin, Gaetano Thiene, Gian Danieli, Alessandra Rampazzo

Genetic variants of Complement factor H gene are not associated with premature coronary heart disease: a family-based study in the Irish population

Weihua Meng, Anne Hughes, Chris C Patterson, Christine Belton, Muhammad S Kamaruddin, Paul G Horan, Frank Kee, Pascal P McKeown

The Fangshan/Family-based Ischemic Stroke Study In China (FISSIC) protocol

Xun Tang, Yonghua Hu, Dafang Chen, Siyan Zhan, Zongxin Zhang, Huidong Dou

A novel DSPP mutation is associated with type II dentinogenesis Imperfecta in a chinese family

Xianqin Zhang, Lanying Chen, Jingyu Liu, Zhen Zhao, Erjun Qu, Xiaotao Wang, Wei Chang, Chengqi Xu, Qing K Wang, Mugen Liu

No evidence for association between tau gene haplotypic variants and susceptibility to Creutzfeldt-Jakob disease

Pascual Sánchez-Juan, Matthew T Bishop, Alison Green, Claudia Giannattasio, Alejandro Arias-Vasquez, Anna Poleggi, Richard SG Knight, Cornelia M van Duijn

Exploring the functional role of the CHRM2 gene in human cognition: results from a dense genotyping and brain expression study

Florencia M Gosso, Eco JC de Geus, Tinca JC Polderman, Dorret I Boomsma, Danielle Posthuma, Peter Heutink

Susceptibility to type 1 diabetes conferred by the PTPN22 C1858T polymorphism in the Spanish population

Jose Santiago, Alfonso Martínez, Hermenegildo de la Calle, Miguel Fernández-Arquero, M ángeles Figueredo, Emilio G de la Concha, Elena Urcelay

Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes

Randy J Chandler, Matthew S Tsai, Kenneth Dorko, Jennifer Sloan, Mark Korson, Richard Freeman, Stephen Strom, Charles P Venditti

Incorporating medical interventions into carrier probability estimation for genetic counseling

Hormuzd A Katki

Matrix Metalloproteinase-9 (MMP-9) polymorphisms in patients with cutaneous malignant melanoma

Javier Cotignola, Boris Reva, Nandita Mitra, Nicole Ishill, Shaokun Chuai, Ami Patel, Shivang Shah, Gretchen Vanderbeek, Daniel Coit, Klaus Busam, Allan Halpern, Alan Houghton, Chris Sander, Marianne Berwick, Irene Orlow

Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study

Vasan Ramachandran S,Larson Martin G,Aragam Jayashri,Wang Thomas J

N-acetyltransferase 2 (NAT2) gene polymorphisms in Parkinson's disease

Juergen Borlak, Stella Marie Reamon-Buettner

Production and characterization of murine models of classic and intermediate maple syrup urine disease

Gregg E Homanics, Kristen Skvorak, Carolyn Ferguson, Simon Watkins, Harbhajan S Paul

Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report

Guillaume de la Houssaye, Ivan Bieche, Olivier Roche, Véronique Vieira, Ingrid Laurendeau, Laurence Arbogast, Hatem Zeghidi, Philippe Rapp, Philippe Halimi, Michel Vidaud, Jean-Louis Dufier, Maurice Menasche, Marc Abitbol

EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families

Lisbet K Lind, Christina Stecksén-Blicks, Kristina Lejon, Marcus Schmitt-Egenolf

Analysis of the XRCC1 gene as a modifier of the cerebral response in ischemic stroke

Ana VC Dutra, Hsiu-Fen Lin, Suh-Hang H Juo, Harvey Mohrenweiser, Souvik Sen, Raji P Grewal

A study of 82 extended HLA haplotypes in HFE-C282Y homozygous hemochromatosis subjects: relationship to the genetic control of CD8+ T-lymphocyte numbers and severity of iron overload

Eugénia Cruz, Jorge Vieira, Susana Almeida, Rosa Lacerda, Andrea Gartner, Carla S Cardoso, Helena Alves, Gra？a Porto

Evidence for a gene influencing heart rate on chromosome 5p13-14 in a meta-analysis of genome-wide scans from the NHLBI Family Blood Pressure Program

Jason M Laramie, Jemma B Wilk, Steven C Hunt, R Curtis Ellison, Aravinda Chakravarti, Eric Boerwinkle, Richard H Myers

Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions

Raihan K Uddin, Yang Zhang, Victoria Siu, Yao-Shan Fan, Richard L O'Reilly, Jay Rao, Shiva M Singh

Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases

Deborah J Smyth, Joanna MM Howson, Felicity Payne, Lisa M Maier, Rebecca Bailey, Kieran Holland, Christopher E Lowe, Jason D Cooper, John S Hulme, Adrian Vella, Ingrid Dahlman, Alex C Lam, Sarah Nutland, Neil M Walker, Rebecca CJ Twells, John A Todd

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