Hamilton SR, Aaltonen LA, eds. World Health Organization classification of tumours. Pathology and genetics of tumours of the digestive system. Lyon, France: IARC Press, 2000.
Schreibman IR, Baker M, Amos C et al. The hamartoma-tous polyposis syndromes: A clinical and molecular review. Am J Gastroenterol 2005: 100: 476-490.
Eng C. PTEN: One gene, many syndromes. Hum Mutat 2003: 22: 183-198.
LeFevre HW, Jacques TF. Multiple polyposis in an infant of four months. Am J Surg 1951: 81: 90-91.
Ruymann FB. Juvenile polyps with cachexia. Report of an infant and comparison with Cronkhite-Canada syndrome in adults. Gastroenterology 1969: 57: 431-438.
Arbeter AM, Courtney RA, Gaynor MF Jr. Diffuse gastrointestinal polyposis associated with chronic blood loss, hypoproteinemia, and anasarca in an infant. J Pediatr 1970: 76: 609-611.
Soper RT, Kent TH. Fatal juvenile polyposis in infancy. Surgery 1971: 69: 692-698.
Ray JE, Heald RJ. Growing up with juvenile gastrointestinal polyposis: report of a case. Dis Colon Rectum 1971: 14: 375-380.
Sachatello CR, Hahn IS, Carrington CB. Juvenile gastrointestinal polyposis in a female infant: Report of a case and review of the literature of a recently recognized syndrome. Surgery 1974: 75: 107-113.
Sharf GM, Becker JHR, Laage NJ. Juvenile gastrointestinal polyposis or the infantile Cronkhite-Canada syndrome. J Pediatr Surg 1986: 21: 953-954.
Nicholls S, Smith V, Davies R et al. Diffuse juvenile non-adenomatous polyposis: A rare cause of severe hypoalbuminaemia in childhood. Acta Paediatr 1995: 84: 1447-1448.
Delnatte C, Sanlaville D, Mougenot J-F et al. Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. Am J Hum Genet 2006: 78: 1066-1074.
Salviati L, Patricelli M, Guariso G et al. Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy. Am J Hum Genet 2006: 79: 593-596.
Hendriks YMC, Verhallen JTCM, van der Smagt JJ et al. Bannayan-Riley-Ruvalcaba syndrome: Further delineation of the phenotype and management of PTEN mutation-positive cases. Fam Cancer 2003: 2: 79-85.
Schouten JP, McElgunn CJ, Waaijer R et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002: 30: e57.
Nannya Y, Sanada M, Nakazaki K et al. A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res 2005: 65: 6071-6079.
de Vries BBA, Pfundt R, Leisink M et al. Diagnostic genome profiling in mental retardation. Am J Hum Genet 2005: 77: 606-616.
Sanlaville D, Delnatte C, Mougenot J-F et al. Reply to Salviati et al. Am J Hum Genet 2006: 79: 596-597.
Dahia PM, Gimm O, Chi H et al. Absence of germline mutations in MINPP1, a phosphatase encoding gene centromeric of PTEN, in patients with Cowden and Bannayan-Riley-Ruvalcaba syndrome without germline PTEN mutations. J Med Genet 2000: 37: 715-717.
Cao X, Eu KW, Kumarasinghe MP et al. Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function. J Med Genet 2006: 43: e13.
Aretz S, Stienen D, Uhlhaas S et al. High proportion of large genomic deletions and a genotype-phenotype update in 80 unrelated families with juvenile polyposis. J Med Genet 2007: 44: 702-709.
van Hattem WA, Brosens LAA, de Leng WWJ et al. Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis. Gut 2008: 57: 623-627.
Tsuchiya KD, Wiesner G, Cassidy SB et al. Deletion 10q23.2-q23.33 in a patient with gastrointestinal juvenile polyposis and other features of a Cowden-like syndrome. Genes Chromosomes Cancer 1998: 21: 113-118.
Jacoby RF, Schlack S, Sekhon G et al. Del(10)(q22.3q24.1) associated with juvenile polyposis. Am J Med Genet 1997: 70: 361-364.
Arch EM, Goodman BK, Van Wesep RA et al. Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. Am J Med Genet 1997: 71: 489-493.
Marsh DJ, Kum JB, Lunetta KL et al. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 1999: 8: 1461-1472.
Balciuniene J, Feng N, Iyadurai K et al. Recurrent 10q22-23 deletions: A genomic disorder on 10q associated with cognitive and behavioral abnormalities. Am J Hum Genet 2007: 80: 938-947.
Zigman AF, Lavine JE, Jones MC et al. Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23. Gastroenterology 1997: 113: 1433-1437.
Sweet K, Willis J, Zhou X-P. Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. JAMA 2005: 294: 2465-2473.