First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient

by Ciliu Zhang, Xiaolu Deng, Yafei Wen, Fang He, Fei Yin, Jing Peng
Published 2020-11-01

Effects of interacting networks of cardiovascular risk genes on the risk of type 2 diabetes mellitus (the CODAM study)

by Feskens Edith JM, Schiffers Paul MH, Kallen Carla JH, Zhang Jian, van Greevenbroek Marleen MJ, de Bruin Tjerk WA
Published 2008-04-01

Mutant POLQ and POLZ/REV3L DNA polymerases may contribute to the favorable survival of patients with tumors with POLE mutations outside the exonuclease domain

by Fangjin Huang, Hisashi Tanaka, Beatrice S. Knudsen, Joanne K. Rutgers
Published 2020-08-01

Expression analyses of the genes harbored by the type 2 diabetes and pediatric BMI associated locus on 10q23

by Zhao Jianhua, Deliard Sandra, Aziz Ali, Grant Struan FA
Published 2012-09-01

Novel MYO15A variants are associated with hearing loss in the two Iranian pedigrees

by Somayeh Khatami, Masomeh Askari, Fatemeh Bahreini, Morteza Hashemzadeh-Chaleshtori, Saeed Hematian, Samira Asgharzade
Published 2020-11-01

Comprehensive analysis on phenotype and genetic basis of Chinese Fanconi anemia patients: dismal outcomes call for nationwide studies

by Daijing Nie, Jing Zhang, Fang Wang, Wei Zhang, Lili Liu, Xue Chen, Yang Zhang, Panxiang Cao, Min Xiong, Tong Wang, Ping Wu, Xiaoli Ma, Wenjun Tian, Mangju Wang, Kylan N. Chen, Hongxing Liu
Published 2020-06-01

Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF

by Isabell Popp, Maqsood Punekar, Nick Telford, Stavros Stivaros, Kate Chandler, Meenakshi Minnis, Anna Castleton, Claire Higham, Louise Hopewell, D. Gareth Evans, Anja Raams, Arjan F. Theil, Stefan Meyer, Detlev Schindler
Published 2018-01-01

Polymorphisms near <it>EXOC4 </it>and <it>LRGUK </it>on chromosome 7q32 are associated with Type 2 Diabetes and fasting glucose; The NHLBI Family Heart Study

by Tobin Jennifer E, Latourelle Jeanne C, Nagle Michael W, Williamson Sally L, Wilk Jemma B, Laramie Jason M, Province Michael A, Borecki Ingrid B, Myers Richard H
Published 2008-05-01

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
Published 2018-01-01

Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P)

by Lahey Cora, Brown Justin T, Laosinchai-Wolf Walairat, Hadd Andrew G
Published 2006-08-01

Osteoprotegerin gene polymorphisms and otosclerosis: an additional genetic association study, multilocus interaction and meta-analysis

by Amal Bouzid, Adel Tekari, Fida Jbeli, Amine Chakroun, Kirtal Hansdah, Amal Souissi, Neha Singh, Mohamed Ali Mosrati, Imen Achour, Abdelmonem Ghorbel, Ilhem Charfeddine, Puppala Venkat Ramchander, Saber Masmoudi
Published 2020-06-01

First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry disease

by Sophie Greillier, Laurent Daniel, Catherine Caillaud, Bertrand Dussol, Guy Touchard, Jean-Michel Goujon, Noémie Jourde-Chiche, Mickaël Bobot
Published 2020-06-01

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
Published 2020-06-01

The polymorphism rs3024505 proximal to IL-10 is associated with risk of ulcerative colitis and Crohns disease in a Danish case-control study

by Tjønneland Anne, Jacobsen Bent A, Østergaard Mette, Christensen Jane, Ernst Anja, Andersen Vibeke, Krarup Henrik B, Vogel Ulla
Published 2010-05-01

The longitudinal association of common susceptibility variants for type 2 diabetes and obesity with fasting glucose level and BMI

by Beilby John P, Warrington Nicole M, Webster Rebecca J, Frayling Timothy M, Palmer Lyle J
Published 2010-10-01

Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report

by D. Hettiarachchi, Hetalkumar Panchal, P. S. Lai, V. H. W. Dissanayake
Published 2020-08-01

The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation

by Xiaolin Ni, Chenxi Jin, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Weibo Xia
Published 2020-10-01

Hereditary intrinsic factor deficiency in China caused by a novel mutation in the intrinsic factor gene—a case report

by Jing Ruan, Bing Han, Junling Zhuang, Miao Chen, Fangfei Chen, Yuzhou Huang, Wenzhe Zhou
Published 2020-11-01

Functional characterisation of the TSC1–TSC2 complex to assess multiple <it>TSC2 </it>variants identified in single families affected by tuberous sclerosis complex

by Dommering Charlotte, Baars Marieke, Maat-Kievit Anneke, Wessels Marja, Adriaans Alwin, Goedbloed Miriam, Sancak Őzgür, Nellist Mark, van den Ouweland Ans, Halley Dicky
Published 2008-02-01

Pharmacogenetic analysis of the effects of polymorphisms in <it>APOE</it>, <it>IDE </it>and <it>IL1B </it>on a ketone body based therapeutic on cognition in mild to moderate Alzhei...

by Poirier Judes, Henderson Samuel T
Published 2011-10-01