Search Results - "Medical Genetics"

Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review by Yiming Lin, Hongzhi Gao, Bin Lu, Shuang Zhou, Tianwen Zheng, Weihua Lin, Lin Zhu, Mengyi Jiang, Qingliu Fu

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The mitochondrial DNA 4,977-bp deletion and its implication in copy number alteration in colorectal cancer by Li Hongzhi, Jiang Yulin, Xin Yijuan, Wei Xiaosong, Jin Tao, Nie Hezhongrong, Fang Hezhi, Shen Lijun, He Jing, Chen Tao, Chen Guorong, Lu Jianxin, Bai Yidong

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Clinical relevance of breast and gastric cancer-associated polymorphisms as potential susceptibility markers for oral clefts in the Brazilian population by Renato Assis Machado, Edimilson Martins de Freitas, Sibele Nascimento de Aquino, Daniella Reis B. Martelli, Mário Sérgio Oliveira Swerts, Silvia Regina de Almeida Reis, Darlene Camati Persuhn, Helenara Salvati Bertolossi Moreira, Verônica Oliveira Dias, Ricardo D. Coletta, Hercílio Martelli-Júnior

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Relationship of circulating cell-free DNA levels to cell-free fetal DNA levels, clinical characteristics and laboratory parameters in preeclampsia by Mézes Miklós, Balogh Krisztián, Cervenak Lászl&#243, Makó Veronika, Prohászka Zoltán, Lazar Levente, Rigó János, Nagy Bálint, Molvarec Attila

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The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures by Sutcliffe James S, Abou-Khalil Bassel, Ma Shaochun, Haines Jonathan L, Hedera Peter

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Circulating leukocyte telomere length is highly heritable among families of Arab descent by Al-Attas Omar S, Al-Daghri Nasser M, Alokail Majed S, Alkharfy Khalid M, Alfadda Assim A, McTernan Philip, Gibson Greg C, Sabico Shaun B, Chrousos George P

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LEGAL ASPECTS OF DIRECT-TO-CONSUMER GENETIC TESTS. by Mariela Yaneva - Deliverska

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A variant in KCNQ1 gene predicts metabolic syndrome among northern urban Han Chinese women by Yafei Liu, Chunxia Wang, Yafei Chen, Zhongshang Yuan, Tao Yu, Wenchao Zhang, Fang Tang, Jianhua Gu, Qinqin Xu, Xiaotong Chi, Lijie Ding, Fuzhong Xue, Chengqi Zhang

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Association of Catechol-O-methyltransferase (COMT Val158Met) with future risk of cardiovascular disease in depressed individuals - a Swedish population-based cohort study by Aysha Almas, Yvonne Forsell, Vincent Millischer, Jette Möller, Catharina Lavebratt

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Two different pathogenic gene mutations coexisted in the same hereditary spherocytosis family manifested with heterogeneous phenotypes by Hongwei Shen, Hui Huang, Kaizhong Luo, Yan Yi, Xiaoliu Shi

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A coding polymorphism in matrix metalloproteinase 9 reduces risk of scarring sequelae of ocular <it>Chlamydia trachomatis </it>infection by Joof Hassan M, Burton Matthew J, Holland Martin J, Cooke Graham, Natividad Angels, Rockett Kirk, Kwiatkowski Dominic P, Mabey David CW, Bailey Robin L

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Molecular and clinical analyses of 84 patients with tuberous sclerosis complex by Hsieh Chia-Jung, Chen Pau-Chung, Chen Chih-Chuan, Liou Horng-Huei, Chien Shu-Chin, Su Yi-Ning, Hung Chia-Cheng, Chen Chih-Ping, Lee Wang-Tso, Lin Win-Li, Lee Chien-Nan

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<it>MUC2 </it>polymorphisms are associated with endometriosis development and infertility: a case-control study by Chang Cherry, Chen Yi, Lin Wu-Chou, Chen Chih-Mei, Chen Chih-Ping, Lee Shan-Chih, Sheu Jim, Tsai Fuu-Jen

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A <it>de novo </it>marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation by Abu-Amero Khaled K, Hellani Ali M, Salih Mustafa A, Seidahmed Mohammad Z, Elmalik Tageldin S, Zidan Ghassan, Bosley Thomas M

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Nitric oxide synthase 2A (NOS2A) polymorphisms are not associated with invasive pneumococcal disease by Ollier William ER, Hart C Anthony, Banda Daniel L, Mankhambo Limangeni A, Payne Debbie, Payton Antony, Carrol Enitan D

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<it>STK39 </it>polymorphisms and blood pressure: an association study in British Caucasians and assessment of <it>cis</it>-acting influences on gene expression by Koref Mauro, Mayosi Bongani M, Avery Peter J, Kay Chris, Cunnington Michael S, Keavney Bernard

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FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature by Elyssa Cannaerts, Anju Shukla, Mensuda Hasanhodzic, Maaike Alaerts, Dorien Schepers, Lut Van Laer, Katta M. Girisha, Iva Hojsak, Bart Loeys, Aline Verstraeten

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<it>BCL-2 </it>(-938C > A) polymorphism is associated with breast cancer susceptibility by Liang Faming, Moran Meena S, Yuan Cunzhong, Yan Shi, Ma Tingting, Jiang Liyu, Tao Kai, Li Xiaoyan, Zhang Ning, Haffty Bruce G, Yang Qifeng

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New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene by Imen Rejeb, Mouna Jerbi, Houweyda Jilani, Hanène Gaied, Yasmina Elaribi, Syrine Hizem, Raja Aoudia, Hafedh Hedri, Chiraz Zaied, Salwa Abid, Hassen Bacha, Taieb BenAbdallah, Lamia BenJemaa, Rim Goucha

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Dopamine D2 receptor polymorphisms and susceptibility to alcohol dependence in Indian males: a preliminary study by Vaswani Meera, Ambekar Atul, Prasad Pushplata

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