Search Results - "Medical Genetics"

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  1. 641
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    Association of the 894G>T polymorphism in the endothelial nitric oxide synthase gene with risk of acute myocardial infarction by Foussas Stefanos G, Sakellariou Dimitris C, Gialafos Elias J, Zairis Michalis N, Richter Dimitris J, Zervou Sevasti I, Tzeis Stylianos E, Grammatopoulos Dimitris K, Andrikopoulos George K, Manolis Antonis S, Stefanadis Christodoulos I, Toutouzas Pavlos K, Hillhouse Edward W

    Published 2008
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  2. 642
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    An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant <it>POLG1</it> mutation by Staropoli John F, Xin Winnie, Barone Rosemary, Cotman Susan L, Sims Katherine B

    Published 2012
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  3. 643
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    Mismatched single stranded antisense oligonucleotides can induce efficient dystrophin splice switching by Kole Ryszard, Fletcher Sue, Johnsen Russell D, Adams Abbie M, Fragall Clayton T, Wilton Steve D

    Published 2011
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  4. 644
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    Effect of <it>BRCA2 </it>sequence variants predicted to disrupt exonic splice enhancers on <it>BRCA2 </it>transcripts by Brewster Brooke L, Pettigrew Christopher A, Whiley Phillip J, Walker Logan C, Spurdle Amanda B, Brown Melissa A

    Published 2010
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  5. 645
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    Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy by Nardone Anna, Russo Silvia, Bengala Mario, Gambardella Stefano, D'Apice Maria, Lucidi Vincenzina, Sangiuolo Federica, Novelli Giuseppe

    Published 2004
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  6. 646
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    Overexpression of MicroRNA-148b-3p stimulates osteogenesis of human bone marrow-derived mesenchymal stem cells: the role of MicroRNA-148b-3p in osteogenesis by Samaneh Mollazadeh, Bibi Sedigheh Fazly Bazzaz, Vajiheh Neshati, Antoine A. F. de Vries, Hojjat Naderi-Meshkin, Majid Mojarad, Mahdi Mirahmadi, Zeinab Neshati, Mohammad Amin Kerachian

    Published 2019
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  7. 647
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    Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report by Zsolt Bánfai, Kinga Hadzsiev, Endre Pál, Katalin Komlósi, Márton Melegh, László Balikó, Béla Melegh

    Published 2017
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  8. 648
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    A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report by Peiwen Xu, Sexing Huang, Jie Li, Yang Zou, Ming Gao, Ranran Kang, Junhao Yan, Xuan Gao, Yuan Gao

    Published 2018
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  9. 649
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    <it>PLCL1 </it>rs7595412 variation is not associated with hip bone size variation in postmenopausal Danish women by Karsdal Morten A, Durand Emmanuelle, Byrjalsen Inger, Cauchi Stéphane, Froguel Philippe

    Published 2009
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  10. 650
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    Prenatal Cytogenetic Diagnosis in Cienfuegos: Years 2007-2018 by Pedro Alí Díaz-Véliz Jiménez, Belkis Vidal Hernández, Teresa Velázquez Martínez, Yoelkis Sanjurjo Pérez, Iliana González Santana

    Published 2020
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  11. 651
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    The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant <it>FMR1 </it>gene <it>in vitro</it> by Tabolacci Elisabetta, Pirozzi Filomena, Gomez-Mancilla Baltazar, Gasparini Fabrizio, Neri Giovanni

    Published 2012
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  12. 652
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    A novel Cys328-terminator mutant implicated in severe coagulation factor XIII deficiency: a case report by Ruimin Cai, Yi Li, Wenyang Wang, Qiang Feng

    Published 2020
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  13. 653
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    A novel mutation in ryanodine receptor 2 (RYR2) genes at c.12670G>T associated with focal epilepsy in a 3-year-old child by Junji Hu, Xueping Gao, Longchang Chen, Tianshu Zhou, Zhaoli Du, Jinghan Jiang, Lei Wei, Zhijun Zhang

    Published 2022
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  14. 654
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    Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report by Xiaodong Lyu, Zhen Guo, Yangwei Li, Ruihua Fan, Yongping Song

    Published 2018
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  15. 655
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    Maple syrup urine disease in Brazil: a panorama of the last two decades by Silvani Herber, Ida Vanessa D. Schwartz, Tatiéle Nalin, Cristina Brinkmann Oliveira Netto, José Simon Camelo Junior, Mara Lúcia Santos, Erlane Marques Ribeiro, Lavinia Schüler-Faccini, Carolina Fischinger Moura de Souza

    Published 2015
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  16. 656
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    Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report by Xiaojing Li, Bingwei Peng, Chi Hou, Jinliang Li, Yiru Zeng, Wenxiao Wu, Yinting Liao, Yang Tian, Wen-Xiong Chen

    Published 2020
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  17. 657
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    Association between lncRNA H19 rs217727 polymorphism and the risk of cancer: an updated meta-analysis by Xue Wang, Jialing Zhong, Fang Chen, Kang Hu, Suhong Sun, Yuanxiu Leng, Xumei Chen, Fengjiao Gan, Yana Pan, Qing Luo

    Published 2019
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  18. 658
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    Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report by Ruixiao Zhang, Jianhong Wang, Qing Wang, Yue Han, Xuejun Liu, Irene Bottillo, Yanhua Lang, Leping Shao

    Published 2018
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  19. 659
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    A Chinese family affected by lynch syndrome caused by MLH1 mutation by Shuqin Jia, Meng Zhang, Yu Sun, Hai Yan, Fangping Zhao, Ziyu Li, Jiafu Ji

    Published 2018
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  20. 660
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    Relationships between the ABO blood group SNP rs505922 and breast cancer phenotypes: a genotype-phenotype correlation study by Rummel Seth, Shriver Craig D, Ellsworth Rachel E

    Published 2012
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