Search Results - "Medical genetics"

Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report by Fatemeh Maghami, Seyed Mohammad Bagher Tabei, Hossein Moravej, Hassan Dastsooz, Farzaneh Modarresi, Mohammad Silawi, Mohammad Ali Faghihi

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Association between acromegaly and a single nucleotide polymorphism (rs2854744) in the IGFBP3 gene by Ming Gao, Bin Zhu, Zhe Xu, Shujun Liu, Jiajia Liu, Guojun Zhang, Yang Gao, Yubo Fan, Xixiong Kang

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Neurodegeneration in an adolescent with Sjogren-Larsson syndrome: a decade-long follow-up case report by Kye Hee Cho, Sung Han Shim, Youngsoo Jung, Se Ra Sung, MinYoung Kim

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INSIG-2 promoter polymorphism and obesity related phenotypes: association study in 1428 members of 248 families by Avery Peter J, Rahman Thahira, Hall Darroch H, Keavney Bernard

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Association of matrix metalloprotease 1, 3, and 12 polymorphisms with rheumatic heart disease in a Chinese Han population by Wei Hu, Yujia Ye, Yirui Yin, Peng Sang, Linhua Li, Jing Wang, Wen Wan, Rui Li, Xiangfeng Bai, Yuehui Xie, Zhaohui Meng

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The Familial Intracranial Aneurysm (FIA) study protocol by Meissner Irene, Pankratz Nathan, Huston John, Foroud Tatiana, Sauerbeck Laura R, Broderick Joseph P, Brown Robert D

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Complex aetiology of an apparently Mendelian form of Mental Retardation by Wetterberg Lennart, Picelli Simone, Yuan Qiu-Ping, Kockum Ingrid, Beleza-Meireles Ana, Gustavson Karl-Henrik, Schalling Martin

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Association of ADAM33 gene polymorphisms with COPD in a northeastern Chinese population by Kang Xiaowen, Huang Kun, Jin Chengzhen, Xiao Jinling, Li Lei, Wang Xinyan, Wu Xiaomei, Lv Fuzhen

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Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma by Losonczy Gergely, Fazakas Ferenc, Pfliegler György, Komáromi István, Balázs Erzsébet, Pénzes Krisztina, Berta András

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A method for determining haploid and triploid genotypes and their association with vascular phenotypes in Williams syndrome and 7q11.23 duplication syndrome by Michael D. Gregory, Bhaskar Kolachana, Yin Yao, Tiffany Nash, Dwight Dickinson, Daniel P. Eisenberg, Carolyn B. Mervis, Karen F. Berman

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C-Reactive protein gene variants are associated with postoperative C-reactive protein levels after coronary artery bypass surgery by Collard Charles D, Fox Amanda A, Liu Kuang-Yu, Muehlschlegel Jochen D, Perry Tjörvi E, Body Simon C, Shernan Stanton K

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Genome-wide association study of lung function and clinical implication in heavy smokers by Xingnan Li, Victor E. Ortega, Elizabeth J. Ampleford, R. Graham Barr, Stephanie A. Christenson, Christopher B. Cooper, David Couper, Mark T. Dransfield, Mei Lan K. Han, Nadia N. Hansel, Eric A. Hoffman, Richard E. Kanner, Eric C. Kleerup, Fernando J. Martinez, Robert Paine, Prescott G. Woodruff, Gregory A. Hawkins, Eugene R. Bleecker, Deborah A. Meyers, for the SPIROMICS Research Group

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Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report by Lukas Varga, Daniel Danis, Martina Skopkova, Ivica Masindova, Zuzana Slobodova, Lucia Demesova, Milan Profant, Daniela Gasperikova

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TopBP1 contributes to the chemoresistance in non-small cell lung cancer through upregulation of p53 by Lv Y, Huo Y, Yu X, Liu R, Zhang S, Zheng X, Zhang X

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Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling by Cong Ma, Lv Liu, Fang-Na Wang, Hai-Shen Tian, Yan Luo, Rong Yu, Liang-Liang Fan, Ya-Li Li

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Genetic variants in RET and risk of Hirschsprung's disease in Southeastern Chinese: a haplotype-based analysis by Gu Qinglong, Xiong Qixing, Liu Weiguang, Duan Shengyu, Zhong Rong, Wang Ying, Liu Li, Wang Li, Tou Jinfa, Yang Hong, Li Hui

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Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth by Bhavi P. Modi, Hardik I. Parikh, Maria E. Teves, Rewa Kulkarni, Jiang Liyu, Roberto Romero, Timothy P. York, Jerome F. Strauss

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A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency by Yongqing Tong, Bei Liu, Hongyun Zheng, Anyu Bao, Zegang Wu, Jian Gu, Bi-Hua Tan, Mary McGrath, Shriya Kane, Chunhua Song, Yan Li

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Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients by Romero-Quintana José G, Frías-Castro Luis O, Arámbula-Meraz Eliakym, Aguilar-Medina Maribel, Dueñas-Arias Jesús E, Melchor-Soto Jesús D, Romero-Navarro José G, Ramos-Payán Rosalío

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Rubinstein-Taybi Syndrome: spectrum of <it>CREBBP </it>mutations in Italian patients by Uzielli Maria, Divizia Maria T, Atzeri Francesca, Giordano Lucio, Colapietro Patrizia, Manzini Stefano, Mottadelli Federica, Castronovo Paola, Gervasini Cristina, Milani Donatella, Bentivegna Angela, Neri Giovanni, Bedeschi Maria F, Faravelli Francesca, Selicorni Angelo, Larizza Lidia

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