Literature DB >> 20435009

Alu-mediated genomic deletion of the serine/threonine protein kinase 11 (STK11) gene in Peutz-Jeghers syndrome.

Marina De Rosa, Martina Galatola, Lucia Quaglietta, Erasmo Miele, Giovanni De Palma, Giovanni Battista Rossi, Annamaria Staiano, Paola Izzo.   

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Year:  2010        PMID： 20435009     DOI： 10.1053/j.gastro.2010.03.061

Source DB:  PubMed          Journal:  Gastroenterology        ISSN： 0016-5085            Impact factor:   22.682


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  8 in total

1.  Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects.

Authors:  Nicoletta Resta; Roberto Giorda; Rosanna Bagnulo; Silvana Beri; Erika Della Mina; Alessandro Stella; Marilidia Piglionica; Francesco Claudio Susca; Ginevra Guanti; Orsetta Zuffardi; Roberto Ciccone
Journal:  Hum Genet       Date:  2010-07-11       Impact factor: 4.132

Review 2.  An exploration of genotype-phenotype link between Peutz-Jeghers syndrome and STK11: a review.

Authors:  Julian Daniell; John-Paul Plazzer; Anuradha Perera; Finlay Macrae
Journal:  Fam Cancer       Date:  2018-07       Impact factor: 2.375

3.  High prevalence of germline STK11 mutations in Hungarian Peutz-Jeghers Syndrome patients.

Authors:  Janos Papp; Marietta Eva Kovacs; Szilvia Solyom; Miklos Kasler; Anne-Lise Børresen-Dale; Edith Olah
Journal:  BMC Med Genet       Date:  2010-11-30       Impact factor: 2.103

4.  Beta catenin and cytokine pathway dysregulation in patients with manifestations of the "PTEN hamartoma tumor syndrome".

Authors:  Martina Galatola; Lorella Paparo; Francesca Duraturo; Mimmo Turano; Giovanni Battista Rossi; Paola Izzo; Marina De Rosa
Journal:  BMC Med Genet       Date:  2012-04-20       Impact factor: 2.103

5.  Specific Alu elements involved in a significant percentage of copy number variations of the STK11 gene in patients with Peutz-Jeghers syndrome.

Authors:  Pawel Borun; Marina De Rosa; Boguslaw Nedoszytko; Jaroslaw Walkowiak; Andrzej Plawski
Journal:  Fam Cancer       Date:  2015-09       Impact factor: 2.375

6.  High Resolution Melting analysis as a rapid and efficient method of screening for small mutations in the STK11 gene in patients with Peutz-Jeghers syndrome.

Authors:  Pawel Borun; Anna Bartkowiak; Tomasz Banasiewicz; Boguslaw Nedoszytko; Dorota Nowakowska; Mikolaj Teisseyre; Janusz Limon; Jan Lubinski; Lukasz Kubaszewski; Jaroslaw Walkowiak; Elzbieta Czkwianianc; Monika Siolek; Agnieszka Kedzia; Piotr Krokowicz; Wojciech Cichy; Andrzej Plawski
Journal:  BMC Med Genet       Date:  2013-05-30       Impact factor: 2.103

7.  Contribution of large genomic rearrangements in Italian Lynch syndrome patients: characterization of a novel alu-mediated deletion.

Authors:  Francesca Duraturo; Angela Cavallo; Raffaella Liccardo; Bianca Cudia; Marina De Rosa; Giuseppe Diana; Paola Izzo
Journal:  Biomed Res Int       Date:  2012-12-30       Impact factor: 3.411

8.  Implications of Splicing Alterations in the Onset and Phenotypic Variability of a Family with Subclinical Manifestation of Peutz-Jeghers Syndrome: Bioinformatic and Molecular Evidence.

Authors:  Andrea Cerasuolo; Francesca Cammarota; Francesca Duraturo; Annamaria Staiano; Massimo Martinelli; Erasmo Miele; Paola Izzo; Marina De Rosa
Journal:  Int J Mol Sci       Date:  2020-11-02       Impact factor: 5.923
  8 in total

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