Literature DB >> 26939673

Genetic Analysis of Jervel and Lange Nielsen Syndrome with a Novel Mutation in KCNQ1 Gene.

Ankur Singh1, Rajniti Prasad2, Royana Singh3, Seema Kapoor4, Zahurul A Bhuiyan5, Om Prakash Mishra2.   

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Year:  2016        PMID： 26939673     DOI： 10.1007/s12098-016-2072-8

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  4 in total

1.  The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome.

Authors:  Tomas Novotny; Jitka Kadlecova; Jan Janousek; Renata Gaillyova; Alexandra Bittnerova; Alena Florianova; Martina Sisakova; Ondrej Toman; Karel Chroust; Ivo Papousek; Jindrich Spinar
Journal:  Pacing Clin Electrophysiol       Date:  2006-09       Impact factor: 1.976

2.  Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia.

Authors:  J Y Al-Aama; S Al-Ghamdi; A Y Bdier; A AlQarawi; O A Jiman; N Al-Aama; J Al-Aata; A A M Wilde; Z A Bhuiyan
Journal:  Clin Genet       Date:  2013-12-27       Impact factor: 4.438

3.  An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome.

Authors:  Zahurul A Bhuiyan; Tarek S Momenah; Ahmad S Amin; Ayman S Al-Khadra; Marielle Alders; Arthur A M Wilde; Marcel M A M Mannens
Journal:  Prog Biophys Mol Biol       Date:  2008-11-05       Impact factor: 3.667

4.  Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families.

Authors:  Annika Winbo; Eva-Lena Stattin; Charlotte Nordin; Ulla-Britt Diamant; Johan Persson; Steen M Jensen; Annika Rydberg
Journal:  BMC Cardiovasc Disord       Date:  2014-02-19       Impact factor: 2.298
  4 in total

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