Search Results - "Medical Genetics"

<it>MTNR1B </it>rs10830963 is associated with fasting plasma glucose, HbA_1Cand impaired beta-cell function in Chinese Hans from Shanghai by Qi Qibin, Li Huaixing, Wu Ying, Liu Chen, Langenberg Claudia, Loos Ruth JF, Lin Xu

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Leptin receptor (LEPR) SNP polymorphisms in HELLP syndrome patients determined by quantitative real-time PCR and melting curve analysis by Than Nándor, Molvarec Attila, Lázár Levente, Várkonyi Tibor, Rigó János, Nagy Bálint

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Characterization of novel isoforms and evaluation of <it>SNF2L/SMARCA1 </it>as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26 by Lavigne Paul, Todd Matthew AM, Lazzaro Maribeth A, Vallee Dominic, De Maria Adriana, Picketts David J

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The potential role for use of mitochondrial DNA copy number as predictive biomarker in presbycusis by Falah M, Houshmand M, Najafi M, Balali M, Mahmoudian S, Asghari A, Emamdjomeh H, Farhadi M

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Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study by Ali Amar, Ayesha Afzal, Athar Hameed, Mumtaz Ahmad, Abdul Rafay Khan, Humaira Najma, Aiysha Abid, Shagufta Khaliq

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ALDH1A2 (RALDH2) genetic variation in human congenital heart disease by Mesquita Sonia MF, Marques Lívia P, Vasconcelos Michelle, Cravo Roberta M, Sobreira Tiago J, Silva Fábio A, Ruiz Viviane F, Pavan Marilene, Krieger José E, Lopes Antônio AB, Oliveira Paulo S, Pereira Alexandre C, Xavier-Neto José

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Association of ADIPOQ gene variants with body weight, type 2 diabetes and serum adiponectin concentrations: the Finnish Diabetes Prevention Study by Venojärvi Mika, Eriksson Johan G, Kolehmainen Marjukka, Lindström Jaana, Pulkkinen Leena, Siitonen Niina, Ilanne-Parikka Pirjo, Keinänen-Kiukaanniemi Sirkka, Tuomilehto Jaakko, Uusitupa Matti

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Variable number of tandem repeat polymorphisms of the interleukin-1 receptor antagonist gene <it>IL-1RN</it>: a novel association with the athlete status by Ryckman Kelli K, Di Santolo Manuela, Cauci Sabina, Williams Scott M, Banfi Giuseppe

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Do polymorphisms in protein kinase catalytic subunit alpha-1 gene associated with cancer susceptibility? a meta-analysis and systematic review by Jialin Meng, Xinyao Fan, Meng Zhang, Zongyao Hao, Chaozhao Liang

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Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing by Corti Stefania, Cereda Matteo, Lucchini Valeria, Fortunato Francesco, Tedeschi Silvana, Bordoni Andreina, Ciscato Patrizia, Sciacco Monica, Gandossini Sandra, Ghezzi Serena, Govoni Alessandra, D'Angelo Maria G, Del Bo Roberto, Magri Francesca, Moggio Maurizio, Bresolin Nereo, Comi Giacomo P

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Replication of LDL GWAs hits in PROSPER/PHASE as validation for future (pharmaco)genetic analyses by Stott David J, Caslake Muriel, Sattar Naveed, Ford Ian, Postmus Iris, de Craen Anton JM, Trompet Stella, Buckley Brendan M, Sacks Frank, Devlin James J, Slagboom P, Westendorp Rudi GJ, Jukema J

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Triglyceride associated polymorphisms of the <it>APOA5 </it>gene have very different allele frequencies in Pune, India compared to Europeans by Chandak Giriraj R, Ward Kirsten J, Yajnik Chittaranjan S, Pandit Anand N, Bavdekar Ashish, Joglekar Charu V, Fall Caroline HD, Mohankrishna P, Wilkin Terence J, Metcalf Bradley S, Weedon Michael N, Frayling Timothy M, Hattersley Andrew T

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<it>ANGPTL4 </it>variants E40K and T266M are associated with lower fasting triglyceride levels in Non-Hispanic White Americans from the Look AHEAD Clinical Trial by Pownall Henry J, Nathan David M, Balasubramanyam Ashok, McCaffrey Jeanne M, Kopin Alan, Cooper Jackie A, Montefusco Maria, Kelley-Hedgepeth Alyson, Smart-Halajko Melissa C, Peter Inga, Talmud Philippa J, Huggins Gordon S

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Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families by Novakovic Srdjan, Hocevar Marko, Besic Nikola, Goelen Guido, Zgajnar Janez, Teugels Erik, Krajc Mateja, De Grève Jacques

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Single nucleotide polymorphisms in bone turnover-related genes in Koreans: ethnic differences in linkage disequilibrium and haplotype by Kim Tae-Ho, Park Eui, Kang Jong-Ho, Shin Hyoung, Cha Hyo-Soung, Jung Jongsun, Kim Kwang-joong, Park Mi-Hyun, Lee Hye-Ja, Hwang Joo-Yeon, Kim Ghi-Su, Kim Kyung-Seon, Hong Jung-Min, Koh Jung-Min, Oh Bermseok, Kimm Kuchan, Kim Shin-Yoon, Lee Jong-Young

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Low prevalence of connexin-40 gene variants in atrial tissues and blood from atrial fibrillation subjects by Tchou Gregory D, Wirka Robert C, Van Wagoner David R, Barnard John, Chung Mina K, Smith Jonathan D

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Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD) by N. C. Ramchander, N. A. J. Ryan, E. J. Crosbie, D. G. Evans

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Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype by Brioschi Simona, Gualandi Francesca, Scotton Chiara, Armaroli Annarita, Bovolenta Matteo, Falzarano Maria S, Sabatelli Patrizia, Selvatici Rita, D'Amico Adele, Pane Marika, Ricci Giulia, Siciliano Gabriele, Tedeschi Silvana, Pini Antonella, Vercelli Liliana, De Grandis Domenico, Mercuri Eugenio, Bertini Enrico, Merlini Luciano, Mongini Tiziana, Ferlini Alessandra

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Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand by Lukana Ngiwsara, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Kitiwan Rojnueangnit, Saisuda Noojaroen, Arthaporn Khongkraparn, Phannee Sawangareetrakul, James R. Ketudat-Cairns, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kuptanon, Suthipong Pangkanon, Jisnuson Svasti

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ABCG2 rs2231142 variant in hyperuricemia is modified by SLC2A9 and SLC22A12 polymorphisms and cardiovascular risk factors in an elderly community-dwelling population by Jia Liu, Wei Yang, Yun Li, Zhanyun Wei, Xiaojuan Dan

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