Search Results - "Medical genetics"

A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing by Chunli Wei, Lisha Yang, Jingliang Cheng, Saber Imani, Shangyi Fu, Hongbin Lv, Yumei Li, Rui Chen, Elaine Lai-Han Leung, Junjiang Fu

Connect to this object online.

"Single nucleotide polymorphisms of the <it>OPG/RANKL </it>system genes in primary hyperparathyroidism and their relationship with bone mineral density" by Piedra María, García-Unzueta María T, Berja Ana, Paule Blanca, Lavín Bernardo A, Valero Carmen, Riancho José A, Amado José A

Connect to this object online.

Association of kynurenine aminotransferase II gene C401T polymorphism with immune response in patients with meningitis by Leib Stephen L, Coutinho Leonam, da Silva Thayse, Fontes Fabrícia, de Souza Fladjule, Agnez-Lima Lucymara

Connect to this object online.

The First COL4A5 Exon 41A Glycine Substitution in a Family With Alport Syndrome by Fang Wang, Dan Zhao, Jie Ding, Xuejuan Li

Connect to this object online.

Gene expression profiling of idiopathic interstitial pneumonias (IIPs): identification of potential diagnostic markers and therapeutic targets by Yasushi Horimasu, Nobuhisa Ishikawa, Masaya Taniwaki, Kakuhiro Yamaguchi, Kosuke Hamai, Hiroshi Iwamoto, Shinichiro Ohshimo, Hironobu Hamada, Noboru Hattori, Morihito Okada, Koji Arihiro, Yuji Ohtsuki, Nobuoki Kohno

Connect to this object online.

No evidence for association between <it>SLC11A1 </it>and visceral leishmaniasis in India by Fakiola Michaela, Jamieson Sarra E, Tiwary Puja, Sudharshan Medhavi, Mishra Anshuman, Oommen Joyce, Mehrotra Sanjana, Rani Deepa, Thangaraj Kumarasamy, Rai Madhukar, Sundar Shyam, Blackwell Jenefer M

Connect to this object online.

QTLs of factors of the metabolic syndrome and echocardiographic phenotypes: the hypertension genetic epidemiology network study by de Simone Giovanni, Devereux Richard B, Lewis Cora E, North Kari E, Hunt Steven C, Tang Weihong, Huang Pinchia, Kraja Aldi T, Arnett Donna K, Rice Treva, Rao DC

Connect to this object online.

Aryl hydrocarbon receptor nuclear translocator (ARNT) gene as a positional and functional candidate for type 2 diabetes and prediabetic intermediate traits: Mutation detection, cas... by Chu Winston S, Sharma Neeraj K, Das Swapan K, Wang Hua, Elbein Steven C

Connect to this object online.

Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing by John Hoon Rim, Se Hee Kim, In Sik Hwang, Soon Sung Kwon, Jieun Kim, Hyun Woo Kim, Min Jung Cho, Ara Ko, Song Ee Youn, Jihun Kim, Young Mock Lee, Hee Jung Chung, Joon Soo Lee, Heung Dong Kim, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Kang

Connect to this object online.

High frequency of Machado-Joseph disease identified in Southeastern Chinese kindreds with spinocerebellar ataxia by Gan Shi-Rui, Shi Sheng-Sheng, Wu Jian-Jun, Wang Ning, Zhao Gui-Xian, Weng Sheng-Tong, Murong Shen-Xing, Lu Chuan-Zhen, Wu Zhi-Ying

Connect to this object online.

Association between polymorphisms in the coagulation factor VII gene and coronary heart disease risk in different ethnicities: a meta-analysis by Mo Xingbo, Hao Yongchen, Yang Xueli, Chen Shufeng, Lu Xiangfeng, Gu Dongfeng

Connect to this object online.

Contribution of the <it>PALB2</it> c.2323C>T [p.Q775X] Founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian... by Tischkowitz Marc, Sabbaghian Nelly, Hamel Nancy, Pouchet Carly, Foulkes William D, Mes-Masso, Provencher Diane M, Tonin Patricia N

Connect to this object online.

Novel mutations of the SRF gene in Chinese sporadic conotruncal heart defect patients by Xu Mengmeng, Xu Yuejuan, Chen Sun, Lu Yanan, Li Fen, Sun Kun

Connect to this object online.

Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene by Parvaneh Karimzadeh, Samaneh Naderi, Farzaneh Modarresi, Hassan Dastsooz, Hamid Nemati, Tayebeh Farokhashtiani, Bibi Shahin Shamsian, Soroor Inaloo, Mohammad Ali Faghihi

Connect to this object online.

Sequence diversity within the HA-1 gene as detected by melting temperature assay without oligonucleotide probes by Mattiuz Pier, Malentacchi Cecilia, Giorgi Massimo, Graziano Claudio, Porfirio Berardino

Connect to this object online.

Evaluation of 6 candidate genes on chromosome 11q23 for coeliac disease susceptibility: a case control study by Close Eimear, Egan Brian, Kennedy Nicholas P, O'Morain Colm, Patel Kunal D, Trimble Valerie, Turner Graham, Ryan Anthony W, Brophy Karen, Lawlor Garrett, MacMathuna Padraic, Stevens Fiona M, Abuzakouk Mohamed, Feighery Conleth, Kelleher Dermot, McManus Ross

Connect to this object online.

Lack of association of genetic variation in chromosome region 15q14-22.1 with type 2 diabetes in a Japanese population by Ichiishi Eiichiro, Yoshikawa Toshikazu, Nakamura Naoto, Kunika Kiyoshi, Keshavarz Parvaneh, Fujita Yuka, Nomura Kyoko, Osabe Dai, Tanahashi Toshihito, Moritani Maki, Yamaguchi Yuka, Shiota Hiroshi, Yasui Natsuo, Inoue Hiroshi, Itakura Mitsuo

Connect to this object online.

Relationship between the rs2596542 polymorphism in the MICA gene promoter and HBV/HCV infection-induced hepatocellular carcinoma: a meta-analysis by Xiaojun Luo, Yu Wang, Ai Shen, Hejun Deng, Min Ye

Connect to this object online.

Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report by Yuxia Tan, Mei Hou, Shaochun Ma, Peipei Liu, Shungang Xia, Yu Wang, Liping Chen, Zongbo Chen

Connect to this object online.

A novel risk score system for assessment of ovarian cancer based on co-expression network analysis and expression level of five lncRNAs by Qian Zhao, Conghong Fan

Connect to this object online.