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Research Article

Novel Germline APC Mutations in Swedish Patients with Familial Adenomatous Polyposis and Gardner Syndrome

Pages 1200-1203 | Published online: 08 Jul 2009

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Vittoria Disciglio, Giovanna Forte, Candida Fasano, Paola Sanese, Martina Lepore Signorile, Katia De Marco, Valentina Grossi, Filomena Cariola & Cristiano Simone. (2021) APC Splicing Mutations Leading to In-Frame Exon 12 or Exon 13 Skipping Are Rare Events in FAP Pathogenesis and Define the Clinical Outcome. Genes 12:3, pages 353.
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Sarah E. Kerr, Cheryl B. Thomas, Stephen N. Thibodeau, Matthew J. Ferber & Kevin C. Halling. (2013) APC Germline Mutations in Individuals Being Evaluated for Familial Adenomatous Polyposis. The Journal of Molecular Diagnostics 15:1, pages 31-43.
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A Rohlin, Y Engwall, K Fritzell, K Göransson, A Bergsten, Z Einbeigi, M Nilbert, P Karlsson, J Björk & M Nordling. (2011) Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis. Oncogene 30:50, pages 4977-4989.
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Jérémie H. Lefevre, Yann Parc, Magali Svrcek, Solen Kernéis, Chrystelle Colas, Conor Shields, Jean-François Flejou, Rolland Parc & Emmanuel Tiret. (2009) APC, MYH, and the Correlation Genotype-Phenotype in Colorectal Polyposis. Annals of Surgical Oncology 16:4, pages 871-877.
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Gunilla Kanter-Smoler, Kaisa Fritzell, Anna Rohlin, Yvonne Engwall, Birgitta Hallberg, Annika Bergman, Johan Meuller, Henrik Grönberg, Per Karlsson, Jan Björk & Margareta Nordling. (2008) Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families. BMC Medicine 6:1.
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Mef Nilbert, Ulf Kristoffersson, Mats Ericsson, Oskar Johannsson, Eva Rambech & Peter Mangell. (2008) Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72. BMC Medical Genetics 9:1.
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MA Wijn, JJ Keller, FM Giardiello & HS Brand. (2007) Oral and maxillofacial manifestations of familial adenomatous polyposis. Oral Diseases 13:4, pages 360-365.
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Luca Ramaglia, Fabio Morgese, Mariagiovanna Filippella & Annamaria Colao. (2007) Oral and maxillofacial manifestations of Gardner’s syndrome associated with growth hormone deficiency: Case report and literature review. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology 103:6, pages e30-e34.
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Henry T Lynch, Susan T Tinley, Trudy G Shaw, Jane F Lynch, James R Howe & Thomas M Attard. (2004) Challenging colonic polyposis pedigrees: differential diagnosis, surveillance, and management concerns. Cancer Genetics and Cytogenetics 148:2, pages 104-117.
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J. Reyes, A. Llompart, L. Barranco, J. Gayà, A. Obrador & I. Forteza-Rey. (2002) Osteomas mandibulares en la poliposis adenomatosa familiar. Gastroenterología y Hepatología 25:6, pages 387-391.
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