Literature DB >> 35535059

Multiplex PCR-based Sequencing of ATP7B Gene in Wilson's Disease - A Preliminary Study.

Rekha Aaron1, Aaron Chapla2, Sumita Danda3, Uday Zachariah1, Chundamannil E Eapen1, Ashish Goel1.   

Abstract

Entities:  

Year:  2021        PMID： 35535059      PMCID： PMC9077194          DOI： 10.1016/j.jceh.2021.08.001

Source DB:  PubMed          Journal:  J Clin Exp Hepatol        ISSN： 0973-6883


× No keyword cloud information.
  12 in total

1.  Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype.

Authors:  S Kumar; B R Thapa; G Kaur; R Prasad
Journal:  Clin Genet       Date:  2005-05       Impact factor: 4.438

Review 2.  Wilson's Disease: Clinical Practice Guidelines of the Indian National Association for Study of the Liver, the Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition, and the Movement Disorders Society of India.

Authors:  Aabha Nagral; Moinak S Sarma; John Matthai; Prashanth L Kukkle; Harshad Devarbhavi; Sanjib Sinha; Seema Alam; Ashish Bavdekar; Radha K Dhiman; Chundamannil E Eapen; Vinay Goyal; Neelam Mohan; Rukmini M Kandadai; Malathi Sathiyasekaran; Ujjal Poddar; Anupam Sibal; Srinivas Sankaranarayanan; Anshu Srivastava; Baburam R Thapa; Pettarusp M Wadia; Surendra K Yachha; Anil Dhawan
Journal:  J Clin Exp Hepatol       Date:  2018-09-03

3.  Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients.

Authors:  A Gupta; D Aikath; R Neogi; S Datta; K Basu; B Maity; R Trivedi; J Ray; S K Das; P K Gangopadhyay; K Ray
Journal:  Hum Genet       Date:  2005-10-28       Impact factor: 4.132

4.  Maturity onset diabetes of the young in India - a distinctive mutation pattern identified through targeted next-generation sequencing.

Authors:  Aaron Chapla; Mahesh Doddabelavangala Mruthyunjaya; Hesarghatta Shyamasunder Asha; Denny Varghese; Manika Varshney; Senthil K Vasan; Padmanaban Venkatesan; Veena Nair; Sarah Mathai; Thomas Vizhalil Paul; Nihal Thomas
Journal:  Clin Endocrinol (Oxf)       Date:  2014-08-07       Impact factor: 3.478

5.  Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.

Authors:  Annu Aggarwal; Gursimran Chandhok; Theodor Todorov; Saloni Parekh; Sharada Tilve; Andree Zibert; Mohit Bhatt; Hartmut H-J Schmidt
Journal:  Ann Hum Genet       Date:  2013-04-02       Impact factor: 1.670

Review 6.  Genetics of Wilson's disease: a clinical perspective.

Authors:  S Suresh Kumar; George Kurian; C E Eapen; Eve A Roberts
Journal:  Indian J Gastroenterol       Date:  2012-09-01

Review 7.  Diagnosis and phenotypic classification of Wilson disease.

Authors:  Peter Ferenci; Karel Caca; Georgios Loudianos; Georgina Mieli-Vergani; Stuart Tanner; Irmin Sternlieb; Michael Schilsky; Diane Cox; Frieder Berr
Journal:  Liver Int       Date:  2003-06       Impact factor: 5.828

8.  WilsonGen a comprehensive clinically annotated genomic variant resource for Wilson's Disease.

Authors:  Mukesh Kumar; Utkarsh Gaharwar; Sangita Paul; Mukta Poojary; Kavita Pandhare; Vinod Scaria; Binukumar Bk
Journal:  Sci Rep       Date:  2020-06-03       Impact factor: 4.379

9.  Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson's Disease.

Authors:  Dániel Németh; Kristóf Árvai; Péter Horváth; János Pál Kósa; Bálint Tobiás; Bernadett Balla; Anikó Folhoffer; Anna Krolopp; Péter András Lakatos; Ferenc Szalay
Journal:  Gastroenterol Res Pract       Date:  2015-12-24       Impact factor: 2.260

10.  Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.

Authors:  Nivedita Singh; Pradeep Kallollimath; Mohd Hussain Shah; Saketh Kapoor; Vishwanath Kumble Bhat; Lakshminarayanapuram Gopal Viswanathan; Madhu Nagappa; Parayil S Bindu; Arun B Taly; Sanjib Sinha; Arun Kumar
Journal:  PLoS One       Date:  2019-05-06       Impact factor: 3.240
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.