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1
Can preimplantation genetic diagnosis be used for monogenic endocrine diseases?
Yeager, Stephanie;Mehta, Shilpa;Sodhi, Misha;Shah, Bina;
2019 journal of pediatric endocrinology & metabolism :... DOI: 10.1515/jpem-2019-01... 221 views
2
EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics
Sophie, Coutant;Chloé, Cabot;Arnaud, Lefebvre;Martine, Léonard;Elise, Prieur-Gaston;Dominique, Campi...
2012 BMC Bioinformatics 474 views
3
First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism
Koufakis, Theocharis;Sertedaki, Amalia;Tatsi, Elizabeth-Barbara;Trakatelli, Christina-Maria;Karras,...
2019 case reports in genetics DOI: 10.1155/2019/3654618 263 views
4
Oral Mucosa-Derived Induced Pluripotent Stem Cells from Patients with Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome.
Trevisan, Marta;Alvisi, Gualtiero;Barbaro, Vanessa;Barzon, Luisa;Raffa, Paolo;Migliorati, Angelo;Des...
2018 cellular reprogramming DOI: 10.1089/cell.2017.00... 224 views
5
Reevaluation of genetic variants previously associated with arrhythmogenic right ventricular cardiomyopathy integrating population-based cohorts and proteomics data.
Ye, Johan Z;Delmar, Mario;Lundby, Alicia;Olesen, Morten S;
2019 Clinical genetics DOI: 10.1111/cge.13621 252 views
6
Genetic variations in familial hypercholesterolemia and cascade screening in East Asians.
Chan, Melody Lok-Yi;Cheung, Ching-Lung;Lee, Alan Chun-Hong;Yeung, Chun-Yip;Siu, Chung-Wah;Leung, Jen...
2019 molecular genetics & genomic medicine DOI: 10.1002/mgg3.520 299 views
7
A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report.
Xu, Peiwen;Huang, Sexing;Li, Jie;Zou, Yang;Gao, Ming;Kang, Ranran;Yan, Junhao;Gao, Xuan;Gao, Yuan;
2018 bmc medical genetics DOI: 10.1186/s12881-018-0... 303 views
8
Familial Mediterranean fever in Chinese adult patients.
Wu, Di;Shen, Min;Zeng, Xiaofeng;
2018 rheumatology (oxford, england) DOI: 10.1093/rheumatology... 246 views
9
Genetic Polymorphism in the C6487T Is Associated with Severity of Hypospadias in Chinese Han Children.
Zhang, Haiyan;Zhang, Zhuo;Jia, Linpei;Ji, Wei;Li, Hai;
2018 BioMed research international DOI: 10.1155/2018/7397839 195 views
10
The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population.
Kay, Chris;Collins, Jennifer A;Wright, Galen E B;Baine, Fiona;Miedzybrodzka, Zosia;Aminkeng, Folefac...
2018 american journal of medical genetics part b, neuro... DOI: 10.1002/ajmg.b.32618 203 views
11
New trend in the epidemiology of thalassaemia.
Li, Chi-Kong;
2017 best practice & research clinical obstetrics & gyn... DOI: S1521-6934(16)30121-... 181 views
12
Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
Gao, Meng;Zhang, Su;Liu, Chunjie;Qin, Yayun;Archacki, Stephen;Jin, Ling;Wang, Yong;Liu, Fei;Chen, Ji...
2016 molecular vision 261 views
13
A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicism.
Redler, S;Pasternack, S M;Wolf, S;Stienen, D;Wenzel, J;Nöthen, M M;Betz, R C;
2015 clinical and experimental dermatology DOI: 10.1111/ced.12631 235 views
14
Familial aggregation of a Chinese female premenopausal gout: monogenic, polygenic, or clinical coincidence?
Zhang, Bingqing;Si, Nuo;Zhang, Yun;Fang, Weigang;Zeng, Xuejun;
2014 journal of clinical rheumatology : practical repor... DOI: 10.1097/RHU.00000000... 248 views
15
A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing.
Xiu, Xiaofei;Yuan, Jinzhong;Deng, Xiong;Xiao, Jingjing;Xu, Hongbo;Zeng, Zhaoyang;Guan, Liping;Xu, Fe...
2014 BioMed research international DOI: 10.1155/2014/186048 234 views
16
Whole exome sequencing reveals genetic predisposition in a large family with retinitis pigmentosa.
Wu, Juan;Chen, Lijia;Tam, Oi Sin;Huang, Xiu-Feng;Pang, Chi-Pui;Jin, Zi-Bing;
2014 BioMed research international DOI: 10.1155/2014/302487 238 views
17
Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.
Gu, Ying;Lu, Kangmo;Yang, Guanghui;Cen, Zhong;Yu, Li;Lin, Lin;Hao, Jing;Yang, Zhigang;Peng, Jiabao;C...
2014 PloS one DOI: 10.1371/journal.pone... 238 views
18
Novel ALMS1 mutations in Chinese patients with Alström syndrome.
Liang, Xiaofang;Li, Hui;Li, Huajin;Xu, Fei;Dong, Fangtian;Sui, Ruifang;
2013 molecular vision 190 views
19
Detection of a novel large deletion causing α-thalassemia in South China.
Jia, Xingyuan;Huang, Rui;Lei, Zhen;Yao, Limei;Wang, Lirong;Li, Ying;Meng, Dahua;Zhou, Yan;Liu, Jingz...
2013 experimental and molecular pathology DOI: 10.1016/j.yexmp.2013... 175 views
20
Genome-wide copy number variation study in anorectal malformations.
Wong, Emily H M;Cui, Long;Ng, Chun-Laam;Tang, Clara S M;Liu, Xue-Lai;So, Man-Ting;Yip, Benjamin Hon-...
2013 Human molecular genetics DOI: 10.1093/hmg/dds451 170 views

Related Journals

Clinical genetics
ISSN: 1399-0004 305 views
journal of pediatric endocrinology & metabolism : jpem
ISSN: 2191-0251 798 views

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endocrine diseases preimplantation genetic diagnosis (pgd)