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