Search Results - "Medical genetics"

Introduction to Basic and Applied Clinical Pharmacokinetics Using Interactive Lecturing and Case-Based Self-learning Modules by Michael Lee

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17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a cas... by Karen Wessel, Jehan Suleiman, Tamam E. Khalaf, Shivendra Kishore, Arndt Rolfs, Ayman W. El-Hattab

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Metastatic colorectal cancer and severe hypocalcemia following irinotecan administration in a patient with X-linked agammaglobulinemia: a case report by Mingming Li, Wei Chen, Xiaomeng Sun, Zhipeng Wang, Xun Zou, Hua Wei, Zhan Wang, Wansheng Chen

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Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms by Hui Zhang, Jian Gao, Hanjun Wang, Mengli Liu, Shuangshuang Lu, Hongen Xu, Wenxue Tang, Guoxi Zheng

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A functional variant alters binding of activating protein 1 regulating expression of FGF7 gene associated with chronic obstructive pulmonary disease by Xiaomei Zhang, Yongxin Guo, Jing Yang, Jianlou Niu, Lina Du, Haiyan Li, Xiaokun Li

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Evaluation of the association between the common E469K polymorphism in the ICAM-1 gene and diabetic nephropathy among type 1 diabetic patients in GoKinD population by Efendic Suad, Brismar Kerstin, Zhang Dongying, Ma Jun, Gu Harvest F

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Enhanced genetic maps from family-based disease studies: population-specific comparisons by Buyske Steven, Weeks Daniel E, He Chunsheng, Abecasis Goncalo R, Stewart William C, Matise Tara C

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Investigating the relationship between <it>UMODL1</it> gene polymorphisms and high myopia: a case-control study in Chinese by Zhu Miao-miao, Yap Maurice KH, Ho Daniel WH, Fung Wai Yan, Ng Po Wah, Gu Yang-shun, Yip Shea Ping

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New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report by Ken-ichi Aoyama, Minoru Kimura, Hiroshi Yamazaki, Masahiro Uchibori, Rena Kojima, Yuko Osawa, Kazuyoshi Hosomichi, Yoshihide Ota, Masayuki Tanaka, Shiro Yamada, Gen Nishimura

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Criteria for reporting incidental findings in clinical exome sequencing - a focus group study on professional practices and perspectives in Belgian genetic centres by Marlies Saelaert, Heidi Mertes, Tania Moerenhout, Elfride De Baere, Ignaas Devisch

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A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis by Mohammad Reza Bordbar, Farzaneh Modarresi, Mohammad Ali Farazi Fard, Hassan Dastsooz, Nader Shakib Azad, Mohammad Ali Faghihi

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Founder mutations in Nepalese population by Anurag Mehta, Himanshi Diwan, Garima Gupta, Shrinidhi Nathany, Shalini Agnihotri, Surender Dhanda

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Quality of life scores differs between genotypic groups of patients with suspected hereditary hemochromatosis by Paula Fernanda Silva Fonseca, Rodolfo Delfini Cançado, Flavio Augusto Naoum, Carla Luana Dinardo, Guilherme Henrique Hencklain Fonseca, Sandra Fatima Menosi Gualandro, José Eduardo Krieger, Alexandre Costa Pereira, Pierre Brissot, Paulo Caleb Junior Lima Santos

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<it>FTO </it>gene variation and measures of body mass in an African population by Hattersley Andrew T, Rayco-Solon Pura, Sirugo Giorgio, Fulford Anthony J, Hennig Branwen J, Frayling Timothy M, Prentice Andrew M

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TNFA-863 polymorphism is associated with a reduced risk of Chronic Obstructive Pulmonary Disease: A replication study by Medina-Coello Chaxiraxi, Varo Nerea, Maca-Meyer Nicole, Rodríguez-Pérez María C, de-Torres Juan P, Baz-Dávila Rebeca, Córdoba-Lanús Elizabeth, Aguirre-Jaime Armando, Casanova Ciro

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Identifying genetic variants and pathways associated with extreme levels of fetal hemoglobin in sickle cell disease in Tanzania by Siana Nkya, Liberata Mwita, Josephine Mgaya, Happiness Kumburu, Marco van Zwetselaar, Stephan Menzel, Gaston Kuzamunu Mazandu, Raphael Sangeda, Emile Chimusa, Julie Makani

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The role of <it>ALOX5AP</it>, <it>LTA4H </it>and <it>LTB4R </it>polymorphisms in determining baseline lung function and COPD susceptibility in UK smokers by Tulah Asif S, Parker Stuart G, Moffatt Miriam F, Wardlaw Andrew J, Connolly Martin J, Sayers Ian

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Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa by Huang Yukan, Zhang Jing, Li Chang, Yang Guohua, Liu Mugen, Wang Qing K, Tang Zhaohui

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A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing by Lusi Zhang, Yingqian Peng, Pingbo Ouyang, Youling Liang, Huilan Zeng, Nuo Wang, Xuanchu Duan, Jingming Shi

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Targeted next generation sequencing identifies a genetic spectrum of DNA variants in patients with hemiplegic migraine by Neven Maksemous, Robert A Smith, Heidi G Sutherland, Bridget H Maher, Omar Ibrahim, Garth A Nicholson, Elisabeth P Carpenter, Rod A Lea, M Zameel Cader, Lyn R Griffiths

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