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Items: 8

1.

Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.

Nathan N, Keppler-Noreuil KM, Biesecker LG, Moss J, Darling TN.

Dermatol Clin. 2017 Jan;35(1):51-60. doi: 10.1016/j.det.2016.07.001. Review.

PMID:
27890237
2.

Synergistic effect of interleukin-10-receptor variants in a case of early-onset ulcerative colitis.

Galatola M, Miele E, Strisciuglio C, Paparo L, Rega D, Delrio P, Duraturo F, Martinelli M, Rossi GB, Staiano A, Izzo P, De Rosa M.

World J Gastroenterol. 2013 Dec 14;19(46):8659-70. doi: 10.3748/wjg.v19.i46.8659.

3.

Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.

He X, Arrotta N, Radhakrishnan D, Wang Y, Romigh T, Eng C.

Cancer Res. 2013 May 15;73(10):3029-40. doi: 10.1158/0008-5472.CAN-12-3811. Epub 2013 Mar 8.

4.

PTEN gene: a model for genetic diseases in dermatology.

Romano C, Schepis C.

ScientificWorldJournal. 2012;2012:252457. doi: 10.1100/2012/252457. Epub 2012 Apr 30.

5.

Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome.

Venturini G, Moulin AP, Deprez M, Uffer S, Bottani A, Zografos L, Rivolta C.

Ophthalmology. 2012 Apr;119(4):857-64. doi: 10.1016/j.ophtha.2011.09.057. Epub 2012 Jan 26.

PMID:
22281088
6.

A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.

Tan MH, Mester J, Peterson C, Yang Y, Chen JL, Rybicki LA, Milas K, Pederson H, Remzi B, Orloff MS, Eng C.

Am J Hum Genet. 2011 Jan 7;88(1):42-56. doi: 10.1016/j.ajhg.2010.11.013. Epub 2010 Dec 30.

7.

Head circumference in the clinical detection of PTEN hamartoma tumor syndrome in a clinic population at high-risk of breast cancer.

Shiovitz S, Everett J, Huang SC, Orloff MS, Eng C, Gruber SB.

Breast Cancer Res Treat. 2010 Nov;124(2):459-65. doi: 10.1007/s10549-010-0839-6. Epub 2010 Mar 27.

PMID:
20349131
8.

Mucocutaneous neuromas: an underrecognized manifestation of PTEN hamartoma-tumor syndrome.

Schaffer JV, Kamino H, Witkiewicz A, McNiff JM, Orlow SJ.

Arch Dermatol. 2006 May;142(5):625-32. Review.

PMID:
16702501

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