Association analysis of a highly polymorphic CAG Repeat in the human potassium channel gene <it>KCNN3 </it>and migraine susceptibility

by Ovcaric Mick, Lea Rod, Sundholm James, Curtain Robert, MacMillan John, Griffiths Lyn
Published 2005-09-01

Toll-like receptor 2 gene polymorphisms, pulmonary tuberculosis, and natural killer cell counts

by Tsen Chia-Cheng, Chao Tung-Ying, Eng Hock-Liew, Wu Chao-Chien, Liu Shih-Feng, Chin Chien-Hung, Chen Chung-Jen, Hsiao Chang-Chun, Chen Yung-Che, Wang Yi-Hsi, Lin Meng-Chih
Published 2010-01-01

Leptin receptor gene polymorphisms c.668A>G and c.1968G>C in Sudanese women with preeclampsia: a case-control study

by Amira Saad, Ishag Adam, Salah Eldin G. Elzaki, Hiba A. Awooda, Hamdan Z. Hamdan
Published 2020-08-01

Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families

by Abida Akbar, Claire Prince, Chloe Payne, James Fasham, Wasim Ahmad, Emma L. Baple, Andrew H. Crosby, Gaurav V. Harlalka, Asma Gul
Published 2019-08-01

Significant association between polymorphism of the erythropoietin gene promoter and myelodysplastic syndrome

by O'Brien Susan, Yeh Chen-Hsiung, Zhang Zhong, Donahue Amber C, Chen Clifford, Wang Xiuqiang, Zhang Xi, Zhang Ke, Kantarjian Hagop, Ma Wanlong, Garcia-Manero Guillermo, Caporaso Neil, Landgren Ola, Albitar Maher
Published 2010-11-01

A novel multiplex PCR-RFLP method for simultaneous detection of the <it>MTHFR 677 C > T</it>, <it>eNOS +894 G > T</it> and <it>- eNOS -786 T > C</it> variants among Malaysian Malay...

by Loo Keat, Griffiths Lyn, Gan Siew
Published 2012-05-01

No association for Chinese HBV-related hepatocellular carcinoma susceptibility SNP in other East Asian populations

by Sawai Hiromi, Nishida Nao, Mbarek Hamdi, Matsuda Koichi, Mawatari Yoriko, Yamaoka Megumi, Hige Shuhei, Kang Jong-Hon, Abe Koichi, Mochida Satoshi, Watanabe Masaaki, Kurosaki Masayuki, Asahina Yasuhiro, Izumi Namiki, Honda Masao, Kaneko Shuichi, Tanaka Eiji, Matsuura Kentaro, Itoh Yoshito, Mita Eiji, Korenaga Masaaki, Hino Keisuke, Murawaki Yoshikazu, Hiasa Yoichi, Ide Tatsuya, Ito Kiyoaki, Sugiyama Masaya, Ahn Sang, Han Kwang-Hyub, Park Jun, Yuen Man-Fung, Nakamura Yusuke, Tanaka Yasuhito, Mizokami Masashi, Tokunaga Katsushi
Published 2012-06-01

Association of the apolipoprotein A5 gene -1131 T>C polymorphism with fasting blood lipids: a meta-analysis in 37859 subjects

by Zhao Tongfeng, Zhao Jiangpei
Published 2010-08-01

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand

by Lukana Ngiwsara, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Kitiwan Rojnueangnit, Saisuda Noojaroen, Arthaporn Khongkraparn, Phannee Sawangareetrakul, James R. Ketudat-Cairns, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kuptanon, Suthipong Pangkanon, Jisnuson Svasti
Published 2019-09-01

Toll-like receptor gene polymorphisms are associated with allergic rhinitis: a case control study

by Nilsson Daniel, Andiappan Anand, Halldén Christer, De Yun Wang, Säll Torbjörn, Tim Chew, Cardell Lars-Olaf
Published 2012-08-01

Identification of 3 novel <it>VHL</it> germ-line mutations in Danish VHL patients

by Dandanell Mette, Friis-Hansen Lennart, Sunde Lone, Nielsen Finn C, Hansen Thomas
Published 2012-07-01

Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report

by Xianghong Li, Liangshan Li, Yaqi Sun, Fuyan Lv, Guoqing Zhang, Wenmiao Liu, Meiyan Zhang, Hong Jiang, Shiguo Liu
Published 2019-08-01

Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study

by Ali Amar, Ayesha Afzal, Athar Hameed, Mumtaz Ahmad, Abdul Rafay Khan, Humaira Najma, Aiysha Abid, Shagufta Khaliq
Published 2020-08-01

Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations

by Ana Perdomo-Ramirez, Marian de Armas-Ortiz, Elena Ramos-Trujillo, Lorena Suarez-Artiles, Felix Claverie-Martin
Published 2019-01-01

Association study of functional genetic variants of innate immunity related genes in celiac disease

by Martín J, López-Nevot MA, Zhernakova A, Rueda B, Koeleman BPC
Published 2005-08-01

Genetic loci linked to Type 1 Diabetes and Multiple Sclerosis families in Sardinia

by Frongia Paola, Maioli Mario, Pacifico Adolfo, Pala Gavino, Nucaro Annalisa, Lampis Rosanna, Contu Daniela, Corongiu Daniela, Secci Maria, Rolesu Marcella, Cuccu Stefania, Tranquilli Stefania, Mancosu Cristina, Lai Marina, Melis Maria, Schirru Lucia, Fadda Elisabetta, Solla Elisabetta, Costa Gianna, Orrù Valeria, Motzo Costantino, Moi Loredana, Murru Daniela, Zoledziewska Magdalena, Deidda Elisabetta, Murru Raffaele, Zavattari Patrizia, Pitzalis Maristella, Chessa Margherita, Ricciardi Rossella, Lostia Stanislao, Marinaro Anna, Milia Anna, Landis Novella, Zedda Maria, Whalen Michael B, Santoni Federico, Marrosu Maria, Devoto Marcella, Cucca Francesco
Published 2008-01-01

Impacts of CR1 genetic variants on cerebrospinal fluid and neuroimaging biomarkers in alzheimer’s disease

by Xi-chen Zhu, Wen-zhuo Dai, Tao Ma
Published 2020-09-01

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
Published 2006-11-01

TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation

by Holinski-Feder Elke, Abramowicz Marc J, Gecz Jozef, Kooy Frank, Christophe-Hobertus Christiane, Schwartz Charles, Christophe Daniel
Published 2004-09-01

Risk prediction for coronary heart disease by a genetic risk score - results from the Heinz Nixdorf Recall study

by Sonali Pechlivanis, Nils Lehmann, Per Hoffmann, Markus M. Nöthen, Karl-Heinz Jöckel, Raimund Erbel, Susanne Moebus
Published 2020-09-01