Literature DB >> 24840842

High incidence of GJB2 gene mutations among assortatively mating hearing impaired families in Kerala: future implications.

Amritkumar Pavithra1, Justin Margret Jeffrey, Jayasankaran Chandru, Arabandi Ramesh, C R Srikumari Srisailapathy.   

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Year:  2014        PMID： 24840842     DOI： 10.1007/s12041-014-0338-3

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  10 in total

1.  Relation between choice of partner and high frequency of connexin-26 deafness.

Authors:  W E Nance; X Z Liu; A Pandya
Journal:  Lancet       Date:  2000-08-05       Impact factor: 79.321

2.  Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.

Authors:  D P Kelsell; J Dunlop; H P Stevens; N J Lench; J N Liang; G Parry; R F Mueller; I M Leigh
Journal:  Nature       Date:  1997-05-01       Impact factor: 49.962

Review 3.  Newborn hearing screening--a silent revolution.

Authors:  Cynthia C Morton; Walter E Nance
Journal:  N Engl J Med       Date:  2006-05-18       Impact factor: 91.245

4.  Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.

Authors:  D A Scott; M L Kraft; R Carmi; A Ramesh; K Elbedour; Y Yairi; C R Srisailapathy; S S Rosengren; A F Markham; R F Mueller; N J Lench; G Van Camp; R J Smith; V C Sheffield
Journal:  Hum Mutat       Date:  1998       Impact factor: 4.878

Review 5.  Genetics, genomics and gene discovery in the auditory system.

Authors:  Cynthia C Morton
Journal:  Hum Mol Genet       Date:  2002-05-15       Impact factor: 6.150

Review 6.  Relevance of connexin deafness (DFNB1) to human evolution.

Authors:  Walter E Nance; Michael J Kearsey
Journal:  Am J Hum Genet       Date:  2004-04-09       Impact factor: 11.025

7.  Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India.

Authors:  M RamShankar; S Girirajan; O Dagan; H M Ravi Shankar; R Jalvi; R Rangasayee; K B Avraham; A Anand
Journal:  J Med Genet       Date:  2003-05       Impact factor: 6.318

8.  Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss.

Authors:  Ram Shankar Mani; Aparna Ganapathy; Rajeev Jalvi; C R Srikumari Srisailapathy; Vikas Malhotra; Shelly Chadha; Arun Agarwal; Arabandi Ramesh; Raghunath Rao Rangasayee; Anuranjan Anand
Journal:  Eur J Hum Genet       Date:  2008-10-22       Impact factor: 4.246

9.  A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart.

Authors:  Kathleen S Arnos; Katherine O Welch; Mustafa Tekin; Virginia W Norris; Susan H Blanton; Arti Pandya; Walter E Nance
Journal:  Am J Hum Genet       Date:  2008-07-24       Impact factor: 11.025

10.  High frequency of connexin26 (GJB2) mutations associated with nonsyndromic hearing loss in the population of Kerala, India.

Authors:  Anu Yamuna Joseph; T J Rasool
Journal:  Int J Pediatr Otorhinolaryngol       Date:  2009-01-20       Impact factor: 1.675
  10 in total
  6 in total

Review 1.  Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.

Authors:  Manisha Ray; Saurav Sarkar; Mukund Namdev Sable
Journal:  J Pediatr Genet       Date:  2021-12-14

2.  Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India.

Authors:  Pavithra Amritkumar; Justin Margret Jeffrey; Jayasankaran Chandru; Paridhy Vanniya S; M Kalaimathi; Rajagopalan Ramakrishnan; N P Karthikeyen; C R Srikumari Srisailapathy
Journal:  BMC Med Genet       Date:  2018-06-19       Impact factor: 2.103

3.  Genetic analysis of SLC26A4 gene (pendrin) related deafness among a cohort of assortative mating families from southern India.

Authors:  Jayasankaran Chandru; Justin Margret Jeffrey; Amritkumar Pavithra; S Paridhy Vanniya; G Nandhini Devi; Subathra Mahalingam; Natarajan Padmavathy Karthikeyen; C R Srikumari Srisailapathy
Journal:  Eur Arch Otorhinolaryngol       Date:  2020-05-16       Impact factor: 2.503

4.  Identification of a novel homozygous mutation in transmembrane channel like 1 (TMC1) gene, one of the second-tier hearing loss genes after GJB2 in India.

Authors:  Pawan Kumar Singh; Manju Ghosh; Shipra Sharma; Shivaram Shastri; Neerja Gupta; Madhumita Roy Chowdhury; Anuranjan Anand; Madhulika Kabra
Journal:  Indian J Med Res       Date:  2017-04       Impact factor: 2.375

5.  Spectrum of GJB2 gene variants in Indian children with non-syndromic hearing loss.

Authors:  Pawan Kumar Singh; Shipra Sharma; Manju Ghosh; Shivaram S Shastri; Neerja Gupta; Madhulika Kabra
Journal:  Indian J Med Res       Date:  2018-06       Impact factor: 2.375

6.  Identification and Computational Analysis of Rare Variants of Known Hearing Loss Genes Present in Five Deaf Members of a Pakistani Kindred.

Authors:  Irum Badshah Saleem; Muhammad Shareef Masoud; Muhammad Qasim; Muhammad Ali; Zubair M Ahmed
Journal:  Genes (Basel)       Date:  2021-11-30       Impact factor: 4.096
  6 in total

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