| 1 | MCAUTS, MHAM, PTEN
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| Distinct Alterations in Tricarboxylic Acid Cycle Metabolites Associate with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome.
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| Yehia L, Ni Y, Feng F, Seyfi M, Sadler T, Frazier TW, Eng C.
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| Am J Hum Genet 105(4):813-821. doi: 10.1016/j.ajhg.2019.09.004. Epub 2019 Sep 26. 2019
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| 2 | MHAM, PTEN
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| Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.
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| He X, Arrotta N, Radhakrishnan D, Wang Y, Romigh T, Eng C.
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| Cancer Res 73(10):3029-40. doi: 10.1158/0008-5472.CAN-12-3811. Epub 2013 Mar 8.
2013
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| 3 | PTEN, MHAM
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| Cowden Syndrome-Affected Patients with PTEN Promoter Mutations Demonstrate Abnormal Protein Translation.
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| Teresi RE, Zbuk KM, Pezzolesi MG, Waite KA, Eng C.
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| Am J Hum Genet 81(4):756-67. Epub 2007 Aug 15. 2007
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| 4 | 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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| 5 | 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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| 6 | BHDS, CYLD, MFT, MFT2, MHAM, MTS, MTS2, NBCCS2
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| Genetics of skin appendage neoplasms and related syndromes.
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| Lee DA, Grossman ME, Schneiderman P, Celebi JT.
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| J Med Genet 42(11):811-9. 2005
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| 7 | MHAM, MTOR, PTEN
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| Lhermitte-Duclos disease: a report of 31 cases with immunohistochemical analysis of the PTEN/AKT/mTOR pathway.
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| Abel TW, Baker SJ, Fraser MM, Tihan T, Nelson JS, Yachnis AT, Bouffard JP, Mena H, Burger PC, Eberhart CG.
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| J Neuropathol Exp Neurol 64(4):341-9. Review. 2005
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| 8 | MHAM, PTEN
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| Male breast cancer in Cowden syndrome patients with germline PTEN mutations.
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| Fackenthal JD, Marsh DJ, Richardson AL, Cummings SA, Eng C, Robinson BG, Olopade OI.
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| J Med Genet 38(3):159-64. 2001
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| 9 | PTEN, MHAM
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| PTEN mutation in a family with Cowden syndrome and autism.
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| Goffin A, Hoefsloot LH, Bosgoed E, Swillen A, Fryns JP.
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| Am J Med Genet 105(6):521-4. 2001
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| 10 | MHAM, PTEN
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| Effect of nonsense mutations on PTEN mRNA stability.
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| Raizis AM, Ferguson MM, George PM.
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| Hum Genet 107(1):24-7. 2000
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| 11 | MHAM, PTEN
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| Variant manifestation of Cowden disease in Japan : hamartomatous polyposis of the digestive tract with mutation of the PTEN gene.
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| Kurose K, et al.
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| Am J Hum Genet 64 : 308-310. 1999
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| 12 | 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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| 13 | 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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| 14 | MHAM, PTEN, TSG10A
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| Allelic imbalance, including deletion of PTEN/MMACI, at the Cowden disease locus on 10q22-23, in hamartomas from patients with Cowden syndrome and germline PTEN mutation.
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| Marsh DJ, Dahia PL, Coulon V, Zheng Z, Dorion-Bonnet F, Call KM, Little R, Lin AY, Eeles RA, Goldstein AM, Hodgson SV, Richardson AL, Robinson BG, Weber HC, Longy M, Eng C.
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| Genes Chromosomes Cancer 21(1):61-9. 1998
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| 15 | 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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| 16 | MHAM, PTEN
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| The genetic basis of Cowden's syndrome : three novel mutations in PTEN/MMAC1/TEP1.
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| Tsou HC, et al.
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| Hum Genet 102 : 467-473. 1998
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| 17 | 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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| 18 | 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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| 19 | MHAM, PTEN
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| Germline mutations of the PTEN/MMAC1 gene in Japanese patients with Cowden disease.
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| Kohno T, et al.
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| Jpn J Cancer Res 89 : 471-474. 1998
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| 20 | 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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| 21 | MHAM, PTEN
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| Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome.
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| Liaw D, et al.
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| Nat Genet 16 : 64-67. 1997
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| 22 | MHAM, PTEN
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| Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.
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| Nelen MR, van Staveren WC, Peeters EA, Hassel MB, Gorlin RJ, Hamm H, Lindboe CF, Fryns JP, Sijmons RH, Woods DG, Mariman EC, Padberg GW, Kremer H.
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| Hum Mol Genet 6(8):1383-7. 1997
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| 23 | MHAM, PTEN, TSG10A
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| Somatic deletions and mutations in the Cowden disease gene, PTEN, in sporadic thyroid tumors.
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| Dahia PL, Marsh DJ, Zheng Z, Zedenius J, Komminoth P, Frisk T, Wallin G, Parsons R, Longy M, Larsson C, Eng C.
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| Cancer Res 57(21):4710-3. 1997
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| 24 | MHAM, PTEN, TSG10A
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| Inherited mutations in PTEN that are associated with breast cancer, Cowden disease, and juvenile polyposis.
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| Lynch ED, Ostermeyer EA, Lee MK, Arena JF, Ji H, Dann J, Swisshelm K, Suchard D, MacLeod PM, Kvinnsland S, Gjertsen BT, Heimdal K, Lubs H, Moller P, King MC.
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| Am J Hum Genet 61(6):1254-60. 1997
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| 25 | MHAM
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| Localization of the gene for Cowden disease to chromosome 10q22-23.
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| Nelen MR, et al.
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| Nat Genet 13 : 114-116. 1996
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