Literature DB >> 26233629

Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract.

Rachel L Gillespie1, Jill Urquhart1, Beverley Anderson1, Simon Williams2, Sarah Waller2, Jane Ashworth3, Susmito Biswas3, Simon Jones2, Fiona Stewart4, I Christopher Lloyd3, Jill Clayton-Smith5, Graeme C M Black6.   

Abstract

Entities:  

Mesh:

Substances:

Year:  2015        PMID: 26233629     DOI: 10.1016/j.ophtha.2015.06.035

Source DB:  PubMed          Journal:  Ophthalmology        ISSN: 0161-6420            Impact factor:   12.079


× No keyword cloud information.
  19 in total

1.  Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties.

Authors:  R Anderson; S Rust; J Ashworth; J Clayton-Smith; R L Taylor; P T Clayton; A A M Morris
Journal:  JIMD Rep       Date:  2018-08-11

2.  Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach.

Authors:  M Musleh; G Hall; I C Lloyd; R L Gillespie; S Waller; S Douzgou; J Clayton-Smith; E Kehdi; G C M Black; J Ashworth
Journal:  Eye (Lond)       Date:  2016-06-17       Impact factor: 3.775

3.  Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.

Authors:  Nisha Patel; Deepti Anand; Dorota Monies; Sateesh Maddirevula; Arif O Khan; Talal Algoufi; Mohammed Alowain; Eissa Faqeih; Muneera Alshammari; Ahmed Qudair; Hadeel Alsharif; Fatimah Aljubran; Hessa S Alsaif; Niema Ibrahim; Firdous M Abdulwahab; Mais Hashem; Haifa Alsedairy; Mohammed A Aldahmesh; Salil A Lachke; Fowzan S Alkuraya
Journal:  Hum Genet       Date:  2016-11-22       Impact factor: 4.132

4.  Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.

Authors:  Muhammad Ansar; Hyung-Lok Chung; Rachel L Taylor; Aamir Nazir; Samina Imtiaz; Muhammad T Sarwar; Alkistis Manousopoulou; Periklis Makrythanasis; Sondas Saeed; Emilie Falconnet; Michel Guipponi; Constantin J Pournaras; Maqsood A Ansari; Emmanuelle Ranza; Federico A Santoni; Jawad Ahmed; Inayat Shah; Khitab Gul; Graeme Cm Black; Hugo J Bellen; Stylianos E Antonarakis
Journal:  Am J Hum Genet       Date:  2018-10-04       Impact factor: 11.025

Review 5.  Screening, genetics, risk factors, and treatment of neonatal cataracts.

Authors:  Jinyu Li; Chun-Hong Xia; Eddie Wang; Ke Yao; Xiaohua Gong
Journal:  Birth Defects Res       Date:  2017-05-22       Impact factor: 2.661

6.  Construction and implications of structural equation modeling network for pediatric cataract: a data mining research of rare diseases.

Authors:  Erping Long; Shuangjuan Xu; Zhenzhen Liu; Xiaohang Wu; Xiayin Zhang; Jinghui Wang; Wangting Li; Runzhong Liu; Zicong Chen; Kexin Chen; Tongyong Yu; Dongxuan Wu; Xutu Zhao; Jingjing Chen; Zhuoling Lin; Qianzhong Cao; Duoru Lin; Xiaoyan Li; Jingheng Cai; Haotian Lin
Journal:  BMC Ophthalmol       Date:  2017-05-19       Impact factor: 2.209

7.  Evaluation of Selected CYP51A1 Polymorphisms in View of Interactions with Substrate and Redox Partner.

Authors:  Tadeja Režen; Iza Ogris; Marko Sever; Franci Merzel; Simona Golic Grdadolnik; Damjana Rozman
Journal:  Front Pharmacol       Date:  2017-06-30       Impact factor: 5.810

8.  Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.

Authors:  Rachel L Taylor; Mark T Handley; Sarah Waller; Christopher Campbell; Jill Urquhart; Alison M Meynert; Jamie M Ellingford; Deirdre Donnelly; Gisela Wilcox; I Chris Lloyd; Helen Mundy; David R FitzPatrick; Charu Deshpande; Jill Clayton-Smith; Graeme C Black
Journal:  Invest Ophthalmol Vis Sci       Date:  2017-01-01       Impact factor: 4.799

9.  Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.

Authors:  Eva Lenassi; Jill Clayton-Smith; Sofia Douzgou; Simon C Ramsden; Stuart Ingram; Georgina Hall; Claire L Hardcastle; Tracy A Fletcher; Rachel L Taylor; Jamie M Ellingford; William D Newman; Cecilia Fenerty; Vinod Sharma; I Chris Lloyd; Susmito Biswas; Jane L Ashworth; Graeme C Black; Panagiotis I Sergouniotis
Journal:  Genet Med       Date:  2019-12-18       Impact factor: 8.822

10.  Mapping of global research output in congenital cataracts from 1903 to 2021.

Authors:  Lujain Talaat Idriss; Maryam Hussain; Muhammad Khan; Tauseef Ahmad; Khushi Muhammad; Mukhtiar Baig; Muhammad Mumtaz Khan
Journal:  Medicine (Baltimore)       Date:  2021-12-03       Impact factor: 1.817

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.