Search Results - "Medical genetics"

Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD by Maruyama Koichi, Awano Hiroyuki, Zhang Zhujun, Itoh Kyoko, Takeshima Yasuhiro, Okizuka Yo, Kumagai Toshiyuki, Yagi Mariko, Matsuo Masafumi

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S100B polymorphisms are associated with age of onset of Parkinson's disease by Camilla Fardell, Anna Zettergren, Caroline Ran, Andrea Carmine Belin, Agneta Ekman, Olof Sydow, Lars Bäckman, Björn Holmberg, Nil Dizdar, Peter Söderkvist, Hans Nissbrandt

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Novel MEF2C point mutations in Chinese patients with Rett (−like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation by Jiaping Wang, Qingping Zhang, Yan Chen, Shujie Yu, Xiru Wu, Xinhua Bao, Yongxin Wen

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Association between polymorphisms in the GRIN1 gene 5' regulatory region and schizophrenia in a northern Han Chinese population and haplotype effects on protein expression in vitro by Yong-ping Liu, Mei Ding, Xi-cen Zhang, Yi Liu, Jin-feng Xuan, Jia-xin Xing, Xi Xia, Jun Yao, Bao-jie Wang

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Mosaic embryo transfer-first report of a live born with nonmosaic partial aneuploidy and uniparental disomy 15 by Kamilla Schlade-Bartusiak, Ph.D, Emma Strong, Ph.D, Olive Zhu, M.Sc, Jessica Mackie, M.Sc, Diane Salema, M.Sc, Michael Volodarsky, Ph.D, Jeffrey Roberts, M.D, Michelle Steinraths, M.D

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Spinocerebellar ataxia type 17: Report of a family with reduced penetrance of an unstable Gln₄₉TBP allele, haplotype analysis supporting a founder effect for unstable a... by Schwinger Eberhard, Dalski Andreas, Zühlke Christine, Finckh Ulrich

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Diabetes-specific genetic effects on obesity traits in American Indian populations: the Strong Heart Family Study by Howard Barbara V, Laston Sandra, Diego Vincent P, Cole Shelley A, Göring Harald HH, MacCluer Jean W, Almasy Laura, Franceschini Nora, Lee Elisa T, Best Lyle G, Fabsitz Richard R, North Kari E

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HTRA1 rs11200638 variant and AMD risk from a comprehensive analysis about 15,316 subjects by Ying Liu, Huipeng Jin, Dong Wei, Wenxiu Li

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A non-synonymous coding change in the <it>CYP19A1 </it>gene Arg264Cys (rs700519) does not affect circulating estradiol, bone structure or fracture by Wang Jenny Z, Deogan Mandeep S, Lewis Joshua R, Chew Shelby, Mullin Ben H, McNab Tegan J, Wilson Scott G, Ingley Evan, Prince Richard L

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Genetic modifiers of Hb E/β⁰thalassemia identified by a two-stage genome-wide association study by Winichagoon Pranee, Makarasara Wattanan, Angkachatchai Vach, Whitacre Johanna, Ma Qianli, Abel Kenneth, Sripichai Orapan, Sherva Richard, Svasti Saovaros, Fucharoen Suthat, Braun Andreas, Farrer Lindsay A

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Possible role of <it>EMID2 </it>on nasal polyps pathogenesis in Korean asthma patients by Pasaje Charisse Flerida, Bae Joon Seol, Park Byung-Lae, Cheong Hyun Sub, Kim Jeong-Hyun, Jang An-Soo, Uh Soo-Taek, Park Choon-Sik, Shin Hyoung Doo

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The mitochondrial DNA T16189C polymorphism and HIV-associated cardiomyopathy: a genotype-phenotype association study by Poulton Joanna, Syed Faisal F, Engel Mark E, Shaboodien Gasnat, Badri Motasim, Mayosi Bongani M

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Polymorphism of the FABP2 gene: a population frequency analysis and an association study with cardiovascular risk markers in Argentina by Mayorga Luis S, Gimenez Sergio, Ojeda Marta S, Real Sebastián M, Gomez Laura C, Roqué María

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Case-control study of <it>IL13 </it>polymorphisms, smoking, and rhinoconjunctivitis in Japanese women: the Kyushu Okinawa Maternal and Child Health Study by Arakawa Masashi, Tanaka Keiko, Miyake Yoshihiro

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Screening mutations of <it>OTOF </it>gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy by Benedict-Alderfer Cindy, Shen Yan, Yang Huan-Ming, Li Jian-Qiang, Liu Qiong, Ji Yu-Bin, Zong Liang, Rao Shao-Qi, Zhao Ya-Li, Weil Dominique, Wang Yi-Chen, Wang Da-Yong, Zheng Qing-Yin, Petit Christine, Wang Qiu-Ju

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Associations of common polymorphisms in <it>GCKR </it>with type 2 diabetes and related traits in a Han Chinese population: a case-control study by Lu Daru, Gu Qian, Chen Hongyan, Li Xiaomu, Ling Yan, Gao Xin

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A mitotic recombination map proximal to the <it>APC </it>locus on chromosome 5q and assessment of influences on colorectal cancer risk by Clark Susan, Guenther Thomas, Spain Sarah, Jones Angela, Rowan Andrew, Harvey John J, Schaschl Helmut, Teixeira Ana, Winter Eitan, Ranta Susanna, Howarth Kimberley, Stewart Aengus, Silver Andrew, Tomlinson Ian

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Implication of the Pro12Ala polymorphism of the <it>PPAR-gamma 2 </it>gene in type 2 diabetes and obesity in the French population by Charles Marie-Aline, Clément Karine, Charpentier Guillaume, Lobbens Stéphane, Meyre David, Ghoussaini Maya, Tauber Maïté, Weill Jacques, Froguel Philippe

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<it>KCNE1 </it>D85N polymorphism - a sex-specific modifier in type 1 long QT syndrome? by Marjamaa Annukka, Lahtinen Annukka M, Swan Heikki, Kontula Kimmo

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An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3 by Bouhouche Ahmed, Benomar Ali, Errguig Leila, Lachhab Lamiae, Bouslam Naima, Aasfara Jehanne, Sefiani Sanaa, Chabraoui Layachi, El Fahime Elmostafa, El Quessar Abdeljalil, Jiddane Mohamed, Yahyaoui Mohamed

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