Search Results - "Medical Genetics"

Variable expressivity of <it>FGF3 </it>mutations associated with deafness and LAMM syndrome by Griffith Andrew J, Butman John A, Riazuddin Sheikh, Shaukat Uzma, Nasir Idrees, Khan Shaheen N, Hegde Rashmi S, Ahmed Zubair M, Riazuddin Saima, Friedman Thomas B, Choi Byung

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Implication of genetic variants near <it>SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, FTO, TCF2</it>, <it>KCNQ1</it>, and <it>WFS1 </it>in Type 2 Diabetes in a Chinese population by Zhou Xianghai, Sun Xiuqin, Wang Fang, Zhang Xiuying, Ren Qian, Luo Yingying, Han Xueyao, Ji Linong

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The C allele of <it>JAK2 </it>rs4495487 is an additional candidate locus that contributes to myeloproliferative neoplasm predisposition in the Japanese population by Ohyashiki Junko H, Yoneta Masayuki, Hisatomi Hisashi, Iwabuchi Tamiko, Umezu Tomohiro, Ohyashiki Kazuma

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The rs1990760 polymorphism within the IFIH1 locus is not associated with Graves' disease, Hashimoto's thyroiditis and Addison's disease by Seidl Christian, Reisch Nicole, Willenberg Holger, Hahner Stefanie, Kahles Heinrich, Robbers Inka, Ramos-Lopez Elizabeth, Penna-Martinez Marissa, Segni Maria, Badenhoop Klaus

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The NEI/NCBI dbGAP database: Genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration by Miller Joan W, Brown Alison, Regan Maureen, Huynh Nancy, Andreoli Michael, Adams Scott, DeWan Andy, Morrison Margaux A, Zhang Hong, Kim Ivana K, Hoh Josephine, DeAngelis Margaret M

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Influences of polymorphic variants of <it>DRD2 </it>and <it>SLC6A3 </it>genes, and their combinations on smoking in Polish population by Niedoszytko Marek, Jassem Ewa, Buczkowski Krzysztof, Sieminska Alicja, Tkacz Ewa

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Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, <it>MN1 </it>(meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neu... by Davidson Tom B, Sanchez-Lara Pedro A, Randolph Linda M, Krieger Mark D, Wu Shi-Qi, Panigrahy Ashok, Shimada Hiroyuki, Erdreich-Epstein Anat

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Pilot study indicate role of preferentially transmitted monoamine oxidase gene variants in behavioral problems of male ADHD probands by Arijit Karmakar, Rishov Goswami, Tanusree Saha, Subhamita Maitra, Anirban Roychowdhury, Chinmay Kumar Panda, Swagata Sinha, Anirban Ray, Kochupurackal P. Mohanakumar, Usha Rajamma, Kanchan Mukhopadhyay

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Computational identification and experimental validation of microRNAs binding to the Alzheimer-related gene ADAM10 by Augustin Regina, Endres Kristina, Reinhardt Sven, Kuhn Peer-Hendrik, Lichtenthaler Stefan F, Hansen Jens, Wurst Wolfgang, Trümbach Dietrich

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Meta-analysis of associations between <it>TCF7L2</it> polymorphisms and risk of type 2 diabetes mellitus in the Chinese population by Wang Jinjin, Hu Fulan, Feng Tianping, Zhao Jingzhi, Yin Lei, Li Linlin, Wang Yan, Wang Qian, Hu Dongsheng

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Association of vitamin D receptor gene variants with polycystic ovary syndrome: a meta-analysis by Xiao-Yuan Shi, Ai-Ping Huang, Duo-Wen Xie, Xiao-Long Yu

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On the concept of eugenics: preliminaries to a critical appraisal Sobre o conceito de eugenia: preliminares à uma avaliação crítica by Demetrio Neri

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Differentially expressed alternatively spliced genes in Malignant Pleural Mesothelioma identified using massively parallel transcriptome sequencing by Sugarbaker David J, Xu Yanlong, Gordon Gavin J, De Rienzo Assunta, Jensen Roderick V, Dong Lingsheng, Bueno Raphael

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Effects of smoking on the genetic risk of obesity: the population architecture using genomics and epidemiology study by Fesinmeyer Megan D, North Kari E, Lim Unhee, Bůžková Petra, Crawford Dana C, Haessler Jeffrey, Gross Myron D, Fowke Jay H, Goodloe Robert, Love Shelley-Ann, Graff Misa, Carlson Christopher S, Kuller Lewis H, Matise Tara C, Hong Ching-Ping, Henderson Brian E, Allen Melissa, Rohde Rebecca R, Mayo Ping, Schnetz-Boutaud Nathalie, Monroe Kristine R, Ritchie Marylyn D, Prentice Ross L, Kolonel Lawrence N, Manson JoAnn E, Pankow James, Hindorff Lucia A, Franceschini Nora, Wilkens Lynne R, Haiman Christopher A, Le Marchand Loic, Peters Ulrike

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"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports" by Fahrettin Uysal, Burcu Turkgenc, Guven Toksoy, Ozlem M. Bostan, Elif Evke, Oya Uyguner, Cengiz Yakicier, Hulya Kayserili, Ergun Cil, Sehime G. Temel

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A cis-eQTL allele regulating reduced expression of CHI3L1 is associated with late-onset adult asthma in Japanese cohorts by Jun Kanazawa, Haruna Kitazawa, Hironori Masuko, Yohei Yatagai, Tohru Sakamoto, Yoshiko Kaneko, Hiroaki Iijima, Takashi Naito, Takefumi Saito, Emiko Noguchi, Satoshi Konno, Masaharu Nishimura, Tomomitsu Hirota, Mayumi Tamari, Nobuyuki Hizawa

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PHARMACOGENETICS OF ANESTHESIOLOGICAL SUPPORT by О. Скавінська, Л. Фіщук, Ю. Чернявська, В. Похилько, О. Євсеєнкова, З. Россоха

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Hypervariable intronic region in <it>NCX1 </it>is enriched in short insertion-deletion polymorphisms and showed association with cardiovascular traits by Juhanson Peeter, Tõnisson Neeme, Veldre Gudrun, Viigimaa Margus, Kelgo Piret, Sõber Siim, Org Elin, Kepp Katrin, Putku Margus, Kindmark Andreas, Kožich Viktor, Laan Maris

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<it>CXCR1 </it>and <it>SLC11A1 </it>polymorphisms affect susceptibility to cutaneous leishmaniasis in Brazil: a case-control and family-based study by Oliveira Joyce, Menezes Eliane, Miller E Nancy, Jamieson Sarra E, Castellucci Léa, Magalhães Andrea, Guimarães Luiz, Lessa Marcus, de Jesus Amélia, Carvalho Edgar M, Blackwell Jenefer M

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Subtle mutations in the <it>SMN1</it> gene in Chinese patients with SMA: p.Arg288Met mutation causing <it>SMN1</it> transcript exclusion of exon7 by Yu-jin Qu, Juan Du, Er-zhen Li, Jin-li Bai, Yu-wei Jin, Hong Wang, Fang Song

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