Literature DB >> 20686846

Functional consequence of the STK11 exon 7 duplication mutation identified in a Korean child with Peutz-Jeghers syndrome.

Jian-Min Chen.   

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Year:  2011        PMID： 20686846     DOI： 10.1007/s10620-010-1357-4

Source DB:  PubMed          Journal:  Dig Dis Sci        ISSN： 0163-2116            Impact factor:   3.199


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  7 in total

Review 1.  Gene duplication: a drive for phenotypic diversity and cause of human disease.

Authors:  Bernard Conrad; Stylianos E Antonarakis
Journal:  Annu Rev Genomics Hum Genet       Date:  2007       Impact factor: 8.929

Review 2.  Genetic variation in human disease and a new role for copy number variants.

Authors:  Andrew N Shelling; Lynnette R Ferguson
Journal:  Mutat Res       Date:  2007-05-05       Impact factor: 2.433

3.  LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome.

Authors:  E Volikos; J Robinson; K Aittomäki; J-P Mecklin; H Järvinen; A M Westerman; F W M de Rooji; T Vogel; G Moeslein; V Launonen; I P M Tomlinson; A R J Silver; L A Aaltonen
Journal:  J Med Genet       Date:  2006-05       Impact factor: 6.318

4.  An updated mutation spectrum in an Australian series of PJS patients provides further evidence for only one gene locus.

Authors:  E Chow; C J Meldrum; R Crooks; F Macrae; A D Spigelman; R J Scott
Journal:  Clin Genet       Date:  2006-11       Impact factor: 4.438

5.  Germline mutation analysis of STK11 gene using direct sequencing and multiplex ligation-dependent probe amplification assay in Korean children with Peutz-Jeghers syndrome.

Authors:  Hye Ran Yang; Jae Sung Ko; Jeong Kee Seo
Journal:  Dig Dis Sci       Date:  2010-12       Impact factor: 3.199

6.  High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.

Authors:  Stefan Aretz; Dietlinde Stienen; Siegfried Uhlhaas; Steffan Loff; Walter Back; Constanze Pagenstecher; D Ross McLeod; Gail E Graham; Elisabeth Mangold; René Santer; Peter Propping; Waltraut Friedl
Journal:  Hum Mutat       Date:  2005-12       Impact factor: 4.878

7.  Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome.

Authors:  N C M Hearle; M F Rudd; W Lim; V Murday; A G Lim; R K Phillips; P W Lee; J O'donohue; P J Morrison; A Norman; S V Hodgson; A Lucassen; R S Houlston
Journal:  J Med Genet       Date:  2006-04       Impact factor: 6.318
  7 in total

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