| 1 | BZS, PTEN
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| Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation.
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| Boccone L, Dessė V, Serra G, Zibordi F, Loudianos G.
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| Am J Med Genet A 146A(2):257-60. No abstract available.
2008
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| 2 | PTEN, BZS, MHAM
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| Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.
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| Lachlan KL, Lucassen AM, Bunyan D, Temple IK.
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| J Med Genet 44(9):579-85. Epub 2007 May 25. 2007
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| 3 | PTEN, MHAM, BZS
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| Distinct Expression Profiles for PTEN Transcript and Its Splice Variants in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome.
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| Sarquis MS, Agrawal S, Shen L, Pilarski R, Zhou XP, Eng C.
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| Am J Hum Genet 79(1):23-30. Epub 2006 May 22. 2006
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| 4 | BZS, PTEN
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| Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation.
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| Boccone L, Dessi V, Zappu A, Piga S, Piludu MB, Rais M, Massidda C, De Virgiliis S, Cao A, Loudianos G.
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| Am J Med Genet A 140(18):1965-9. No abstract available. 2006
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| 5 | CNC1, BZS, PJS1, LEOPS
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| The lentiginoses: cutaneous markers of systemic disease and a window to new aspects of tumourigenesis.
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| Bauer AJ, Stratakis CA.
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| J Med Genet 42(11):801-10. Epub 2005 Jun 15. 2005
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| 6 | FHAM, BZS,PJS1, JPS
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| The hamartomatous polyposis syndromes: a clinical and molecular review.
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| Schreibman IR, Baker M, Amos C, McGarrity TJ.
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| Am J Gastroenterol 100(2):476-90. Review. 2005
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| 7 | BZS, MHAM, PTEN
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| Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.
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| Celebi JT, et al.
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| J Med Genet 36(5):360-4. 1999
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| 8 | BZS, MHAM, PTEN
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| PTEN mutation spectrum and genotype-phenotype correlations in bannayan-riley-ruvalcaba syndrome suggest a single entity with cowden syndrome.
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| Marsh DJ, et al.
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| Hum Mol Genet 8(8):1461-72. 1999
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| 9 | BZS, MHAM, PTEN
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| Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.
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| Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Duboue B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Eng C, et al.
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| Hum Mol Genet 7(3):507-15. 1998
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| 10 | BZS, HMPS, JPS2, MHAM, PJS1
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| Molecular classification of the inherited hamartoma polyposis syndromes : clearing the muddied waters.
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| Eng C, et al.
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| Am J Hum Genet 62 : 1020-1022. 1998
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| 11 | BZS, JPS, SMAD4, MHAM, PTEN
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| PTEN and inherited hamartoma-cancer syndromes.
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| Eng C, et al.
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| Nat Genet 19 : 223. 1998
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| 12 | BZS, MHAM, PTEN
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| Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.
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| Zori RT, et al.
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| Am J Med Genet 80 : 399-402. 1998
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| 13 | BZS, PTEN
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| Germline mutations in PTEN are present in Bannayan-Zonana syndrome.
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| Marsh DJ, Dahia PL, Zheng Z, Liaw D, Parsons R, Gorlin RJ, Eng C.
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| Nat Genet 16(4):333-4. No abstract available. 1997
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| 14 | BZS, PTEN
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| Deletion of 10q23.2-q24.1 including PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. (abstr)
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| Arch EM, et al.
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| Am J Hum Genet 61 : A118. 1997
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| 15 | BZS
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| Translocation 19;Y in a child with Bannayan-Zonana phenotype.
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| Israel J, et al.
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| J Med Genet 28 : 427-428. 1991
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