Search Results - "Medical genetics"

Chromosome 7p linkage and association study for diabetes related traits and type 2 diabetes in an African-American population enriched for nephropathy by Gallagher Carla J, Keene Keith L, Langefeld Carl D, Leak Tennille S, Lu Lingyi, Mychaleckyj Josyf C, Rich Stephen S, Freedman Barry I, Bowden Donald W, Sale Michèle M

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Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis by Gotto Antonio M, Willerson James T, Lombardi Raffaella, Todd Josh, Cilingiroglu Mehmet, Chen Suet, Ballantyne Christie M, Marian AJ

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Genome-wide association reveals three SNPs associated with sporadic amyotrophic lateral sclerosis through a two-locus analysis by Schymick Jennifer C, Zhang Zhaogong, Sha Qiuying, Traynor Bryan J, Zhang Shuanglin

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Lack of increases in methylation at three CpG-rich genomic loci in non-mitotic adult tissues during aging by Kanel Gary C, Yang Allen S, Kim Jung, Eckstam Carrie L, Siegmund Kimberly D, Chu Michelle W, Tavaré Simon, Shibata Darryl

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Expanding the clinical spectrum associated with defects in <it>CNTNAP2 </it>and <it>NRXN1</it> by Ullmann Reinhard, Tinschert Sigrid, Prott Eva, Nagl Sandra, Maystadt Isabelle, Kohlhase Jürgen, Klapecki Jakub, Hoyer Juliane, Horn Denise, Hackmann Karl, Engels Hartmut, Ekici Arif B, Bijlsma Emilia K, Bader Ingrid, Albrecht Beate, Gregor Anne, Wohlleber Eva, Woods Geoffrey, Reis André, Rauch Anita, Zweier Christiane

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<it>N-acetyltransferase 8</it>, a positional candidate for blood pressure and renal regulation: resequencing, association and <it>in silico </it>study by Rosenberg Mai, Kelgo Piret, Veldre Gudrun, Org Elin, Kepp Katrin, Juhanson Peeter, Viigimaa Margus, Laan Maris

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PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease by Adamlje Anton, Leskovar Bostjan, Haarpaintner Guido, Balazic Joze, Zupanic-Pajnic Irena, Jereb Simona, Kenig Anton, Hudler Petra, Bidovec Matjaz, Reiterova Jana, Stekrova Jitka, Strmecki Lana, Vouk Katja, Skoflic Antun, Dovc Reina, Hojs Radovan, Komel Radovan

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ABCG2 polymorphisms in gout: insights into disease susceptibility and treatment approaches by Cleophas MC, Joosten LA, Stamp LK, Dalbeth N, Woodward OM, Merriman TR

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A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family by Zixun Song, Nuo Si, Wei Xiao

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A complete linkage disequilibrium in a haplotype of three SNPs in Fat Mass and Obesity associated (FTO) gene was strongly associated with anthropometric indices after controlling f... by Naser Kalantari, Nastaran Keshavarz Mohammadi, Pantea Izadi, Maryam Gholamalizadeh, Saeid Doaei, Hassan Eini-Zinab, Tuire Salonurmi, Shahram Rafieifar, Reza Janipoor, Ghasem Azizi Tabesh

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POLE mutations improve the prognosis of endometrial cancer via regulating cellular metabolism through AMF/AMFR signal transduction by Yiran Li, Yiding Bian, Kai Wang, Xiao-Ping Wan

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Gene expression profiling of fibroblasts in a family with LMNA-related cardiomyopathy reveals molecular pathways implicated in disease pathogenesis by Halida P. Widyastuti, Trina M. Norden-Krichmar, Anna Grosberg, Michael V. Zaragoza

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Characterization of large genomic deletions in the <it>FBN1 </it>gene using multiplex ligation-dependent probe amplification by Lewis Tracey, Yetman Angela T, Rope Alan F, Wooderchak-Donahue Whitney, Furtado Larissa V, Plant Parker, Bayrak-Toydemir Pinar

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An investigation of ribosomal protein L10 gene in autism spectrum disorders by Rastam Maria, Anckarsäter Henrik, Nygren Gudrun, Goubran-Botros Hany, Betancur Catalina, Chaste Pauline, Durand Christelle M, Fauchereau Fabien, Delorme Richard, Gong Xiaohong, Gillberg I Carina, Kopp Svenny, Mouren-Simeoni, Gillberg Christopher, Leboyer Marion, Bourgeron Thomas

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Association between LRP5 polymorphism and bone mineral density: a Bayesian meta-analysis by Eisman John A, Nguyen Nguyen D, Tran Bich NH, Nguyen Tuan V

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Shared ancestral susceptibility to colorectal cancer and other nutrition related diseases by Huhn Stefanie, Bevier Melanie, Rudolph Anja, Pardini Barbara, Naccarati Alessio, Hein Rebecca, Hoffmeister Michael, Vodickova Ludmila, Novotny Jan, Brenner Hermann, Chang-Claude Jenny, Hemminki Kari, Vodicka Pavel, Försti Asta

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MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India by Sekar Deepha, Seena Vengalil, Veeramani Preethish-Kumar, Kiran Polavarapu, Atchayaram Nalini, Narayanappa Gayathri, Meera Purushottam

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Novel APC gene mutations associated with protein alteration in diffuse type gastric cancer by Souvik Ghatak, Payel Chakraborty, Sandeep Roy Sarkar, Biswajit Chowdhury, Arup Bhaumik, Nachimuthu Senthil Kumar

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Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case repor... by Jianping Jiang, Jinwei Huang, Jianlei Gu, Xiaoshu Cai, Hongyu Zhao, Hui Lu

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Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype by Annamaria Sapuppo, Piero Pavone, Andrea Domenico Praticò, Martino Ruggieri, Gaetano Bertino, Agata Fiumara

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