Literature DB >> 11768390

A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family.

M Montera, F Piaggio, C Marchese, V Gismondi, A Stella, N Resta, L Varesco, G Guanti, C Mareni.   

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Year:  2001        PMID： 11768390      PMCID： PMC1734788          DOI： 10.1136/jmg.38.12.863

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  23 in total

1.  PupaSNP Finder: a web tool for finding SNPs with putative effect at transcriptional level.

Authors:  Lucía Conde; Juan M Vaquerizas; Javier Santoyo; Fátima Al-Shahrour; Sergio Ruiz-Llorente; Mercedes Robledo; Joaquín Dopazo
Journal:  Nucleic Acids Res       Date:  2004-07-01       Impact factor: 16.971

2.  Adenomatous polyposis coli (APC) is essential for maintaining the integrity of the seminiferous epithelium.

Authors:  Pradeep S Tanwar; Lihua Zhang; Jose M Teixeira
Journal:  Mol Endocrinol       Date:  2011-08-04

3.  Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.

Authors:  Neng Chen; Lisbeth Tranebjærg; Nanna Dahl Rendtorff; Iris Schrijver
Journal:  J Mol Diagn       Date:  2011-04-29       Impact factor: 5.568

4.  Constitutional high expression of an APC mRNA isoform in a subset of attenuated familial adenomatous polyposis patients.

Authors:  Tiziana Venesio; Antonella Balsamo; Christian Sfiligoi; Luca Fuso; Sara Molatore; Guglielmina Nadia Ranzani; Mauro Risio
Journal:  J Mol Med (Berl)       Date:  2006-12-02       Impact factor: 4.599

5.  A 10 bp deletion polymorphism and 2 new variations in the GLUT1 gene associated with meningomyelocele.

Authors:  Clint M Cormier; Kit Sing Au; Hope Northrup
Journal:  Reprod Sci       Date:  2010-12-06       Impact factor: 3.060

Review 6.  Genomic era diagnosis and management of hereditary and sporadic colon cancer.

Authors:  Edward David Esplin; Michael Paul Snyder
Journal:  World J Clin Oncol       Date:  2014-12-10

7.  Genomic features defining exonic variants that modulate splicing.

Authors:  Adam Woolfe; James C Mullikin; Laura Elnitski
Journal:  Genome Biol       Date:  2010-02-16       Impact factor: 13.583

8.  Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis.

Authors:  Hong Tao; Kazuya Shinmura; Hidetaka Yamada; Masato Maekawa; Satoshi Osawa; Yasuhiro Takayanagi; Kazuya Okamoto; Tomohiro Terai; Hiroki Mori; Toshio Nakamura; Haruhiko Sugimura
Journal:  BMC Res Notes       Date:  2010-11-16

9.  Report on mutation in exon 15 of the APC gene in a case of brain metastasis.

Authors:  Nives Pećina-Slaus; Zeljka Majić; Vesna Musani; Martina Zeljko; Hrvoje Cupić
Journal:  J Neurooncol       Date:  2009-08-27       Impact factor: 4.130

10.  Genes in glucose metabolism and association with spina bifida.

Authors:  Christina M Davidson; Hope Northrup; Terri M King; Jack M Fletcher; Irene Townsend; Gayle H Tyerman; Kit Sing Au
Journal:  Reprod Sci       Date:  2008-01       Impact factor: 3.060
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