Search Results - "Medical genetics"

A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family by Anwar Kamal Khan, Noor Muhammad, Abdul Aziz, Sher Alam Khan, Khadim Shah, Abdul Nasir, Muzammil Ahmad Khan, Saadullah Khan

Connect to this object online.

A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss by Mingming Wang, Yicui Zhou, Fengguo Zhang, Zhaomin Fan, Xiaohui Bai, Haibo Wang

Connect to this object online.

A simple, fast and inexpensive method for mutation scanning of CFTR gene by Juan Emilio Figueredo Lago, Anny Armas Cayarga, Yaimé Josefina González González, Teresa Collazo Mesa

Connect to this object online.

E-selectin S128R polymorphism and severe coronary artery disease in Arabs by Mohamed Gamal H, Al-Boudari Olayan M, Abu-Amero Khaled K, Dzimiri Nduna

Connect to this object online.

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment by Isabelle Schrauwen, Imen Chakchouk, Anushree Acharya, Khurram Liaqat, Irfanullah, University of Washington Center for Mendelian Genomics, Deborah A. Nickerson, Michael J. Bamshad, Khadim Shah, Wasim Ahmad, Suzanne M. Leal

Connect to this object online.

Hemophagocytic lymphohistiocytosis and congenital factor VII deficiency: a case report by Xiong Wang, Ning Tang, Wei Chang, Yanjun Lu, Dengju Li

Connect to this object online.

A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0 by Pereira Maria, Luna Ana, Fortes Maria, Correa-Giannella Maria, Soggia Ana

Connect to this object online.

Functional polymorphism of the <it>NFKB1 </it>gene promoter is related to the risk of dilated cardiomyopathy by Song Yaping, Xue Hui, Chen Yu, Gao Linbo, Li Yi, Wang Yanyun, Peng Ying, Rao Li, Zhou Bin, Liao Miao, Zhang Lin

Connect to this object online.

Identification of a novel pathogenic TBCK variant in a Chinese patient with infantile hypotonia with psychomotor retardation and characteristic facies type 3 (IHPRF3): a case repor... by Hao-Yi Tan, Bin Wang, Yuan-Zong Song

Connect to this object online.

Associations of the hypertension-related single nucleotide polymorphism rs11191548 with high-density lipoprotein cholesterol and leptin in Chinese children by Lijun Wu, Liwang Gao, Xiaoyuan Zhao, Meixian Zhang, Jianxin Wu, Jie Mi

Connect to this object online.

Genetic variation in Fcγ receptor IIa and risk of coronary heart disease: negative results from two large independent populations by Khuseyinova Natalie, Winkelmann Bernhard, Meisinger Christa, Rothenbacher Dietrich, Vollmert Caren, Hoffmann Michael M, Karakas Mahir, Böhm Bernhard O, Illig Thomas, März Winfried, Koenig Wolfgang

Connect to this object online.

Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report by Shanshan Xu, Qun Lian, Jinzhun Wu, Lingli Li, Jia Song

Connect to this object online.

Adult case of partial trisomy 9q by Cotterill Andrew, Tiong Keith, Falhammar Henrik

Connect to this object online.

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families by Yingjie Zhou, Muhammad Tariq, Sijie He, Uzma Abdullah, Jianguo Zhang, Shahid Mahmood Baig

Connect to this object online.

GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report by Daniela Palheiro Mendes-, Francianne Gomes Andrade, Gustavo Borges, Filipe V. dos Santos-Bueno, Iracema F. Vieira, Luana Kelly M. da S. da Rocha, Daniella A. Mendes-, Rosely M. Zancopé-Oliveira, Rodrigo T. Calado, Maria S. Pombo-

Connect to this object online.

Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report by Zhenzhu Zheng, Gaopin Yuan, Minyan Zheng, Yiming Lin, Faming Zheng, Mengyi Jiang, Lin Zhu, Qingliu Fu

Connect to this object online.

PAX6 gene variations associated with aniridia in south India by Shashikant Shetty, Vijayalakshmi Perumalsamy, Krishnadas Subbaiah, Neethirajan Guruswamy, Sundaresan Periasamy

Connect to this object online.

1031-1034delTAAC (Leu125Stop): a novel familial <it>UBE3A</it> mutation causing Angelman syndrome in two siblings showing distinct phenotypes by De Molfetta Greice Andreotti, Ferreira Cristiane Ayres, Vidal Daniel Onofre, de Rosso Giuliani Liane, Maldonado Maria José, Silva Wilson Araujo

Connect to this object online.

Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report by Joshi Stephen, Sheela Nampoothiri, K. P. Vinayan, Dhanya Yesodharan, Preetha Remesh, William A. Gahl, May Christine V. Malicdan

Connect to this object online.

The prevalence of CGG repeat expansion mutation in FMR1 gene in the northern Chinese women of reproductive age by Yinan Ma, Xing Wei, Hong Pan, Songtao Wang, Xin Wang, Xiaowei Liu, Liying Zou, Xiaomei Wang, Xiaorong Wang, Hua Yang, Fengying Wang, Kefang Wang, Lifang Sun, Xiaolin Qiao, Yue Yang, Xiuhua Ma, Dandan Liu, Guifeng Ding, Junqi Ma, Xiuli Yang, Sainan Zhu, Yu Qi, Chenghong Yin

Connect to this object online.