Search Results - "Medical Genetics"

A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism by Wenjie Wang, Jianping Yang, Jinjie Xue, Wenjuan Mu, Xiaogang Zhang, Wang Wu, Mengnan Xu, Yuyan Gong, Yiqian Liu, Yu Zhang, Xiaobing Xie, Weiyue Gu, Jigeng Bai, David S. Cram

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Rapid screening for chromosomal aneuploidies using array-MLPA by van Beuningen Rinie, Mommersteeg Monique, Huang Ying, Ren Zhao-Rui, Zhou Da-Wen, Xiong Can, Xu Miao, Yan Jing-Bin, Wang Ying-Tai, Liao Shi-Xiu, Zeng Fanyi, Wu Ying, Zeng Yi-Tao

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Molecular analysis of the <it>APC </it>and <it>MUTYH </it>genes in Galician and Catalonian FAP families: a different spectrum of mutations? by Gómez-Fernández Nuria, Castellví-Bel Sergi, Fernández-Rozadilla Ceres, Balaguer Francesc, Muñoz Jenifer, Madrigal Irene, Milà Montserrat, Graña Begoña, Vega Ana, Castells Antoni, Carracedo Ángel, Ruiz-Ponte Clara

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Protective effect of <it>KCNH2 </it>single nucleotide polymorphism K897T in LQTS families and identification of novel <it>KCNQ1 </it>and <it>KCNH2 </it>mutations by Oberti Carlos, Redfearn Sharon, Bryant Randall M, Liu Mugen, Zhang Li, Chen Shenghan, Zhang Xianqin, Vincent G Michael, Wang Qing K

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Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss by Jing Zhang, Jing Guan, Hongyang Wang, Linwei Yin, Dayong Wang, Lidong Zhao, Huifang Zhou, Qiuju Wang

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The multidrug resistance 1 (<it>MDR1</it>) gene polymorphism G-rs3789243-A is not associated with disease susceptibility in Norwegian patients with colorectal adenoma and colorecta... by Hamfjord Julian, Sæbø Mona, Østergaard Mette, Jensen Dorte, Agerstjerne Lene, Andersen Vibeke, Kure Elin, Vogel Ulla

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Genetic polymorphism of HLA-DRB1 alleles in Mexican mestizo patients with abdominal aortic aneurysms by Javier E. Anaya-Ayala, Susana Hernandez-Doño, Monica Escamilla-Tilch, Jose Marquez-Garcia, Kemberly Hernandez-Sotelo, Rodrigo Lozano-Corona, Daniela Ruiz-Gomez, Julio Granados, Carlos A. Hinojosa

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The polymorphism G894 T of endothelial nitric oxide synthase (eNOS) gene is associated with susceptibility to essential hypertension (EH) in Morocco by Sanaa Nassereddine, Hind Hassani Idrissi, Rachida Habbal, Rhizlane Abouelfath, Farah Korch, Majda Haraka, Adnane Karkar, Sellama Nadifi

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Synthesis and characterization of a novel chemically designed (Globo)3&ndash;DTPA&ndash;KLH antigen by Hajmohammadi M, Siadat SD, Ghorbani M, Shafiee Ardestani M, Teimourian S, Asgari V, Ahangari Cohan R, Hajmohammadi M, Hajmohammadi A, Behzadi R, Rajab Nezhad S, Namvar Asl N

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Chromosomal abnormalities in spontaneous abortion after assisted reproductive treatment by Kim You, Cho Jung, Seok Hyun, Yoon Tae, Lee Woo, Kim Ji, Lyu Sang, Shim Sung

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Genome-wide association study of nocturnal blood pressure dipping in hypertensive patients by Jenni M. Rimpelä, Ilkka H. Pörsti, Antti Jula, Terho Lehtimäki, Teemu J. Niiranen, Lasse Oikarinen, Kimmo Porthan, Antti Tikkakoski, Juha Virolainen, Kimmo K. Kontula, Timo P. Hiltunen

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Identification of a pleiotropic locus on chromosome 7q for a composite left ventricular wall thickness factor and body mass index: the HyperGEN Study by Hopkins Paul N, Rao Dabeeru C, Kitzman Dalane W, Oberman Albert, Li Na, Devereux Richard B, Tang Weihong, Claas Steven A, Arnett Donna K

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Molecular epidemiology and hematologic characterization of δβ-thalassemia and hereditary persistence of fetal hemoglobin in 125,661 families of greater Guangzhou area, the metropol... by Fan Jiang, Liandong Zuo, Dongzhi Li, Jian Li, Xuewei Tang, Guilan Chen, Jianying Zhou, Hang Lu, Can Liao

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Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy by Patricia S. Graham, Georgia Kaidonis, Sotoodeh Abhary, Mark C. Gillies, Mark Daniell, Rohan W. Essex, John H. Chang, Stewart R. Lake, Bishwanath Pal, Alicia J. Jenkins, Alex W. Hewitt, Ecosse L. Lamoureux, Philip G. Hykin, Nikolai Petrovsky, Matthew A. Brown, Jamie E. Craig, Kathryn P. Burdon

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A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis by Arístegui Javier, Garrote Elisa, Rodríguez Jose A, Sarasola Esther, García-Barcina Maria J

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The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus by Chandok Gurangad, Farahani Maryam M, Sadeghpour Anita, Keramati Ali R, Mani Arya

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Assessment of cellular cobalamin metabolism in Gaucher disease by Suelen Porto Basgalupp, Marina Siebert, Charles Ferreira, Sidney Behringer, Ute Spiekerkoetter, Luciana Hannibal, Ida Vanessa Doederlein Schwartz

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Associations of mitochondrial DNA 3777-4679 region mutations with maternally inherited essential hypertensive subjects in China by Ye Zhu, Jia You, Chao Xu, Xiang Gu

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Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy by Xiangdong Kong, Xingjian Zhong, Lina Liu, Siying Cui, Yuxia Yang, Lingrong Kong

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Distribution of the <it>FYB</it>^{<it>ES </it>}and <it>RHCE*ce(733C>G) </it>alleles in an Argentinean population: Implications for transfusion medicine by Biondi Claudia S, Racca Liliana L, Borrás Silvia, Fiori Silvana V, Cotorruelo Carlos M, Racca Amelia L

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