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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An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3

Ahmed Bouhouche, Ali Benomar, Leila Errguig, Lamiae Lachhab, Naima Bouslam, Jehanne Aasfara, Sanaa Sefiani, Layachi Chabraoui, Elmostafa El Fahime, Abdeljalil El Quessar, Mohamed Jiddane, Mohamed Yahyaoui

BRCA2 Variants and cardiovascular disease in a multi-ethnic study

Kevin Zbuk, Changchung Xie, Robin Young, Mahyar Heydarpour, Guillaume Pare, A Darlene Davis, Ruby Miller, Matthew B Lanktree, Danish Saleheen, John Danesh, Salim Yusuf, James C Engert, Robert A Hegele, Sonia S Anand

Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy

Revathi Rajkumar, John C Sembrat, Barbara McDonough, Christine E Seidman, Ferhaan Ahmad

The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy

Marcella Neri, Emanuele Valli, Giovanna Alfano, Matteo Bovolenta, Pietro Spitali, Claudio Rapezzi, Francesco Muntoni, Sandro Banfi, Giovanni Perini, Francesca Gualandi, Alessandra Ferlini

Association between polymorphisms in the adiponectin gene and cardiovascular disease: a meta-analysis

Huan Zhang, Xingbo Mo, YongChen Hao, Dongfeng Gu

IGF2/H19 hypomethylation in a patient with very low birthweight, preocious pubarche and insulin resistance

Rinki Murphy, Lourdes Ibá？ez, Andrew Hattersley, J？rg Tost

The genetic variants at the HLA-DRB1 gene are associated with primary IgA nephropathy in Han Chinese

Yang Jiyun, Li Guisen, Zhu Li, Shi Yi, Lv Jicheng, Lu Fang, Liu Xiaoqi, Ma Shi, Jing Cheng, Lin Ying, Wang Haiyan, Wang Li, Zhang Hong, Yang Zhenglin

Circulating leukocyte telomere length is highly heritable among families of Arab descent

Omar Al-Attas, Nasser Al-Daghri, Majed Alokail, Khalid Alkharfy, Assim Alfadda, Philip McTernan, Greg Gibson, Shaun Sabico, George Chrousos

Reliable and rapid characterization of functional FCN2 gene variants reveals diverse geographical patterns

Olusola Ojurongbe, Eman Abou Ouf, Hoang Van Tong, Nguyen L Toan, Le H Song, Paola R Luz, Iara JT Messias-Reason, Dennis Nurjadi, Phillip Zanger, Jürgen FJ Kun, Peter G Kremsner, Thirumalaisamy P Velavan

A novel multiplex PCR-RFLP method for simultaneous detection of the MTHFR 677 C？>？T, eNOS +894 G？>？T and - eNOS -786 T？>？C variants among Malaysian Malays

Loo Keat Wei, Lyn Robyn Griffiths, Gan Siew Hua

Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease

Daniel S Lieber, Scott B Vafai, Laura C Horton, Nancy G Slate, Shangtao Liu, Mark L Borowsky, Sarah E Calvo, Jeremy D Schmahmann, Vamsi K Mootha

Multi-locus stepwise regression: a haplotype-based algorithm for finding genetic associations applied to atopic dermatitis

Sven Knüppel, Jorge Esparza-Gordillo, Ingo Marenholz, Hermann-Georg Holzhütter, Anja Bauerfeind, Andreas Ruether, Stephan Weidinger, Young-Ae Lee, Klaus Rohde

MUC2 polymorphisms are associated with endometriosis development and infertility: a case-control study

Cherry Chang, Yi Chen, Wu-Chou Lin, Chih-Mei Chen, Chih-Ping Chen, Shan-Chih Lee, Jim Sheu, Fuu-Jen Tsai

Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux

Saadullah Khan, Raja Hussain Ali, Sanaullah Abbasi, Muhammad Nawaz, Noor Muhammad, Wasim Ahmad

Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual

Jolanta Wierzba, María Concepción Gil-Rodríguez, Anna Polucha, Beatriz Puisac, María Arnedo, María Esperanza Teresa-Rodrigo, Dorota Winnicka, Fausto G Hegardt, Feliciano J Ramos, Janusz Limon, Juan Pié

No Association of nineteenCOX-2 gene variants to preclinical markers of atherosclerosis The Cardiovascular Risk in Young Finns Study

Kati L？hteel？, Tarja Kunnas, Leo-Pekka Lyytik？inen, Nina Mononen, Leena Taittonen, Tomi Laitinen, Johannes Kettunen, Markus Juonala, Nina Hutri-K？h？nen, Mika K？h？nen, Jorma S Viikari, Olli T Raitakari, Terho Lehtim？ki, Seppo T Nikkari

Beta catenin and cytokine pathway dysregulation in patients with manifestations of the "PTEN hamartoma tumor syndrome"

Martina Galatola, Lorella Paparo, Francesca Duraturo, Mimmo Turano, Giovanni Rossi, Paola Izzo, Marina De Rosa

Race-ethnic differences in the association of genetic loci with HbA1c levels and mortality in U.S. adults: the third National Health and Nutrition Examination Survey (NHANES III)

Jonna L Grimsby, Bianca C Porneala, Jason L Vassy, Quanhe Yang, José C Florez, Josée Dupuis, Tiebin Liu, Ajay Yesupriya, Man-Huei Chang, Renee M Ned, Nicole F Dowling, Muin J Khoury, James B Meigs, The MAGIC Investigators

Systems analysis of inflammatory bowel disease based on comprehensive gene information

Satoru Suzuki, Takako Takai-Igarashi, Yutaka Fukuoka, Dennis P Wall, Hiroshi Tanaka, Peter J Tonellato

Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation

Morten S Olesen, Bo H Bentzen, Jonas B Nielsen, Annette B Steffensen, Jens-Peter David, Javad Jabbari, Henrik K Jensen, Stig Hauns？, Jesper H Svendsen, Nicole Schmitt

TGFB1 genetic polymorphisms and coronary heart disease risk: a meta-analysis

Yingchang Lu, Jolanda MA Boer, Roza M Barsova, Olga Favorova, Anuj Goel, Inke K？nig, Michael Müller, Edith JM Feskens

Genetic variations in APPL2 are associated with overweight and obesity in a Chinese population with normal glucose tolerance

Shan Jiang, Qichen Fang, Weihui Yu, Rong Zhang, Cheng Hu, Kun Dong, Yuqian Bao, Chen Wang, Kunsan Xiang, Weiping Jia

Computational identification and experimental validation of microRNAs binding to the Alzheimer-related gene ADAM10

Regina Augustin, Kristina Endres, Sven Reinhardt, Peer-Hendrik Kuhn, Stefan F Lichtenthaler, Jens Hansen, Wolfgang Wurst, Dietrich Trümbach

Genotyping of a tri-allelic polymorphism by a novel melting curve assay in MTHFD1L: an association study of nonsyndromic Cleft in Ireland

Stefano Minguzzi, Anne M Molloy, Kirke Peadar, James Mills, John M Scott, James Troendle, Faith Pangilinan, Lawrence Brody, Anne Parle-McDermott

Non-replication study of a genome-wide association study for hypertension and blood pressure in African Americans

Srividya Kidambi, Soumitra Ghosh, Jane M Kotchen, Clarence E Grim, Shanthi Krishnaswami, Mary L Kaldunski, Allen W Cowley, Shailendra B Patel, Theodore A Kotchen

A mutation at IVS1 + 5 of the von Hippel-Lindau gene resulting in intron retention in transcripts is not pathogenic in a patient with a tongue cancer?: case report

Takeshi Asakawa, Mariko Esumi, Sohei Endo, Akinori Kida, Minoru Ikeda

PNPLA 3 I148M genetic variant associates with insulin resistance and baseline viral load in HCV genotype 2 but not in genotype 3 infection

Rembeck Karolina,Maglio Cristina,Lagging Martin,Christensen Peer

Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder

Hooper Sean D,Johansson Anna CV,Tellgren-Roth Christian,Stattin Eva-Lena

MC1R variants predisposing to concomitant primary cutaneous melanoma in a monozygotic twin pair

Pellegrini Cristina,Fargnoli Maria,Suppa Mariano,Peris Ketty

Polymorphisms in the genes coding for iron binding and transporting proteins are associated with disability, severity, and early progression in multiple sclerosis

Gemmati Donato,Zeri Giulia,Orioli Elisa,De Gaetano Francesca E

Prediction of lung cancer risk in a Chinese population using a multifactorial genetic model

Li Huan,Yang Lixin,Zhao Xueying,Wang Jiucun

Toll-like receptor gene polymorphisms are associated with allergic rhinitis: a case control study

Nilsson Daniel,Andiappan Anand,Halldén Christer,De Yun Wang

1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes

De Molfetta Greice Andreotti,Ferreira Cristiane Ayres,Vidal Daniel Onofre,de Rosso Giuliani Liane

Beckwith Wiedemann imprinting defect found in leucocyte but not buccal DNA in a child born small for gestational age

Murphy Rinki,Mackay Deborah,Mitchell Ed A

Transferability and Fine Mapping of genome-wide associated loci for lipids in African Americans

Adeyemo Adebowale,Bentley Amy R,Meilleur Katherine G,Doumatey Ayo P

Quantitative global and gene-specific promoter methylation in relation to biological properties of neuroblastomas

Kiss Nimrod B,Kogner Per,Johnsen John,Martinsson Tommy

Expression analyses of the genes harbored by the type 2 diabetes and pediatric BMI associated locus on 10q23

Zhao Jianhua,Deliard Sandra,Aziz Ali,Grant Struan FA

A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population

Levesque Sebastien,Morin Charles,Guay Simon-Pierre,Villeneuve Josee

Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure

Bendon Charlotte L,Fenwick Aimée L,Hurst Jane A,Nürnberg Gudrun

Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I)

Khan Tahir,Klar Joakim,Nawaz Sadia,Jameel Muhammad

Evaluation of single nucleotide polymorphisms in microRNAs (hsa-miR-196a2 rs11614913 C/T) from Brazilian women with breast cancer

Linhares José Juvenal,Azevedo Marcos,Siufi Adalberto Abra？o,de Carvalho Cristina Valleta

MAOA promoter methylation and susceptibility to carotid atherosclerosis: role of familial factors in a monozygotic twin sample

Zhao Jinying,Forsberg Christopher W,Goldberg Jack,Smith Nicholas L

High prevalence of Arginine to Glutamine Substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians

Rani Deepa,Nallari Pratibha,Priyamvada Singh,Narasimhan Calambur

Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7

Yu-jin Qu,Juan Du,Er-zhen Li,Jin-li Bai

Phosphodiesterase 8B gene polymorphism in women with recurrent miscarriage: A retrospective case control study

Granfors Michaela,Karypidis Helena,Hosseini Frida,Skj？ldebrand-Sparre Lottie

APOA5 Q97X Mutation Identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family

Dussaillant Catalina,Serrano Valentina,Maiz Alberto,Eyheramendy Susana

Peripheral PDLIM5 expression in bipolar disorder and the effect of olanzapine administration

Zain Mohd,Jahan Suffee,Reynolds Gavin P,Zainal Nor

A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death

Teirlinck Carolien H,Senni Fa？za,Malti Rajae El,Majoor-Krakauer Danielle

Maternal and offspring fasting glucose and type 2 diabetes-associated genetic variants and cognitive function at age 8: a Mendelian randomization study in the Avon Longitudinal Study of Parents and Children

Bonilla Carolina,Lawlor Debbie A,Ben–Shlomo Yoav,Ness Andrew R

Genotype-phenotype correlation in 22q11.2 deletion syndrome

Michaelovsky Elena,Frisch Amos,Carmel Miri,Patya Miriam

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