Search Results - "Medical genetics"

A novel <it>DSPP </it>mutation is associated with type II dentinogenesis Imperfecta in a chinese family by Xu Chengqi, Wang Xiaotao, Chang Wei, Zhao Zhen, Qu Erjun, Chen Lanying, Liu Jingyu, Zhang Xianqin, Wang Qing K, Liu Mugen

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Absence of association between <it>SERPINE2 </it>genetic polymorphisms and chronic obstructive pulmonary disease in Han Chinese: a case-control cohort study by Sun Chang, Fu Wei-Ping, Zhong Li, Dai Lu-Ming, Zhang Ya-Ping

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Pituitary tumor transforming gene-1 haplotypes and risk of pituitary adenoma: a case-control study by Liu Jinfang, Liu Zhixiong, Xiao Lan, Chen Shuai, Liu Yunsheng

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A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case by Tohid Ghasemnejad, Mahmoud Shekari Khaniani, Jafar Nouri Nojadeh, Sima Mansoori Derakhshan

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Comprehensive analysis of <it>RET </it>common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events by Castaño Luis, Carlos de Agustín Juan, Marbá Martina, Enguix-Riego Maria del Valle, Acosta Manuel, Fernández Raquel M, Núñez-Torres Rocio, Antiñolo Guillermo, Borrego Salud

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The interactive role of type 2 diabetes mellitus and E-selectin S128R mutation on susceptibility to coronary heart disease by Mohamed Gamal H, Al-Boudari Olayan M, Al-Mohanna Futwan, Abu-Amero Khaled K, Dzimiri Nduna

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Disorder-specific effects of polymorphisms at opposing ends of the <it>Insulin Degrading Enzyme </it>gene by Bartl Jasmin, Scholz Claus-Jürgen, Hinterberger Margareta, Jungwirth Susanne, Wichart Ildiko, Rainer Michael K, Kneitz Susanne, Danielczyk Walter, Tragl Karl H, Fischer Peter, Riederer Peter, Grünblatt Edna

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SNP-SNP interactions dominate the genetic architecture of candidate genes associated with left ventricular mass in african-americans of the GENOA study by Mosley Thomas H, Chu Jian, Meyers Kristin J, Kardia Sharon LR

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Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental... by Björkhem Gudrun, Collin Anna, Davidsson Josef, Soller Maria

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The role of <it>CACNA1S </it>in predisposition to malignant hyperthermia by Halsall P Jane, Robinson Rachel L, Morris Andrew, Leo Vincenzo, Ringrose Christopher, Carpenter Danielle, Hopkins Philip M, Shaw Marie-Anne

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A novel mutation in the <it>WFS1 </it>gene identified in a Taiwanese family with low-frequency hearing impairment by Chung Shing-Fang, Wang Ying-Piao, Tsai Hsun-Tien, Lin Hung-Ching, Ho Guan-Min, Shu Min-Tsan

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Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases by Morgane Plutino, Annabelle Chaussenot, Cécile Rouzier, Samira Ait-, Konstantina Fragaki, Véronique Paquis-Flucklinger, Sylvie Bannwarth

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The impact of the Catechol-O-methyltransferase Val158Met polymorphism on survival in the general population - the HUNT study by Skorpen Frank, Stovner Lars J, Hagen Knut, Pettersen Elin, Zwart John-Anker

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Identification of a novel nonsense mutation in the UNC13D gene from a patient with hemophagocytic lymphohistiocytosis: a case report by Xijiang Hu, Dongling Liu, Xiwen Jiang, Bo Gao, Changying Chen

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lncRNA TINCR sponges miR-214-5p to upregulate ROCK1 in hepatocellular carcinoma by Min Hu, Yaowu Han, Ying Zhang, Yuanfeng Zhou, Lin Ye

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Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib by McDonald Jay M, Reddy Vishnu, Makris Christopher, Dale Janet K, Zheng Lixin, Atkinson T Prescott, Pan George, Bi Lilia L, Siegel Richard M, Puck Jennifer M, Lenardo Michael J, Straus Stephen E

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Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature by Dudding Tracy, Truong Hoa T, Blanchard Christopher L, Elsea Sarah H

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The management of achondroplasia in Italy: results from a Delphi panel based on real-world experience by Mohamad Maghnie, Mohamad Maghnie, Paolo Bruzzi, Giorgio Casilli, Dario Lidonnici, Gioacchino Scarano

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Exacerbation of ichthyosis vulgaris phenotype by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis: a case report by Xiong Wang, Lu Tan, Na Shen, Yanjun Lu, Ying Zhang

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A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family by Bingxin Zhou, Lili Yu, Yan Wang, Wenjing Shang, Yi Xie, Xiong Wang, Fengchan Han

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