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Items: 1 to 20 of 47

1.

Lhermitte-Duclos Disease (Dysplastic Gangliocytoma of the Cerebellum) and Cowden Syndrome: Clinical Experience From a Single Institution with Long-Term Follow-Up.

Jiang T, Wang J, Du J, Luo S, Liu R, Xie J, Wang Y, Li C.

World Neurosurg. 2017 Aug;104:398-406. doi: 10.1016/j.wneu.2017.04.147. Epub 2017 May 4.

PMID:
28479525
2.

Association of autoimmune thyroiditis and celiac disease with Juvenile Polyposis due to 10q23.1q23.31 deletion: Potential role of PI3K/Akt pathway dysregulation.

Guaraldi F, Di Nardo G, Tarani L, Bertelli L, Susca FC, Bagnulo R, Resta N.

Eur J Med Genet. 2017 Jul;60(7):380-384. doi: 10.1016/j.ejmg.2017.04.010. Epub 2017 Apr 18. Review.

PMID:
28434922
3.

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
4.

Germline PTEN Mutation Analysis for PTEN Hamartoma Tumor Syndrome.

Ngeow J, Eng C.

Methods Mol Biol. 2016;1388:63-73. doi: 10.1007/978-1-4939-3299-3_6.

PMID:
27033071
5.
6.

Cutaneous and ocular manifestations of neurocutaneous syndromes.

Chernoff KA, Schaffer JV.

Clin Dermatol. 2016 Mar-Apr;34(2):183-204. doi: 10.1016/j.clindermatol.2015.11.003. Epub 2015 Nov 22. Review.

PMID:
26903185
7.

PTEN hamartoma tumor syndrome.

Mester J, Charis E.

Handb Clin Neurol. 2015;132:129-37. doi: 10.1016/B978-0-444-62702-5.00009-3. Review.

PMID:
26564076
8.

Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome.

Cameselle-Teijeiro J, Fachal C, Cabezas-Agrícola JM, Alfonsín-Barreiro N, Abdulkader I, Vega-Gliemmo A, Hermo JA.

Am J Clin Pathol. 2015 Aug;144(2):322-8. doi: 10.1309/AJCP84INGJUVTBME.

PMID:
26185318
9.

Balancing Proliferation and Connectivity in PTEN-associated Autism Spectrum Disorder.

Tilot AK, Frazier TW 2nd, Eng C.

Neurotherapeutics. 2015 Jul;12(3):609-19. doi: 10.1007/s13311-015-0356-8. Review.

10.

PTEN hamartoma tumor syndrome: clinical risk assessment and management protocol.

Ngeow J, Eng C.

Methods. 2015 May;77-78:11-9. doi: 10.1016/j.ymeth.2014.10.011. Epub 2014 Oct 22. Review.

PMID:
25461771
11.

Genetic/familial high-risk assessment: breast and ovarian, version 1.2014.

Daly MB, Pilarski R, Axilbund JE, Buys SS, Crawford B, Friedman S, Garber JE, Horton C, Kaklamani V, Klein C, Kohlmann W, Kurian A, Litton J, Madlensky L, Marcom PK, Merajver SD, Offit K, Pal T, Pasche B, Reiser G, Shannon KM, Swisher E, Voian NC, Weitzel JN, Whelan A, Wiesner GL, Dwyer MA, Kumar R; National comprehensive cancer network.

J Natl Compr Canc Netw. 2014 Sep;12(9):1326-38.

PMID:
25190698
12.

Oral manifestations of phosphatase and tensin homolog hamartoma tumor syndrome: a report of three cases.

Celentano A, Adamo D, Leuci S, Mignogna MD.

J Am Dent Assoc. 2014 Sep;145(9):950-4. doi: 10.14219/jada.2014.58.

PMID:
25170002
13.

Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome.

Mester J, Eng C.

J Surg Oncol. 2015 Jan;111(1):125-30. doi: 10.1002/jso.23735. Epub 2014 Aug 11. Review.

PMID:
25132236
14.

Colonic manifestations of PTEN hamartoma tumor syndrome: case series and systematic review.

Stanich PP, Pilarski R, Rock J, Frankel WL, El-Dika S, Meyer MM.

World J Gastroenterol. 2014 Feb 21;20(7):1833-8. doi: 10.3748/wjg.v20.i7.1833. Review.

15.

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

Vanderver A, Tonduti D, Kahn I, Schmidt J, Medne L, Vento J, Chapman KA, Lanpher B, Pearl P, Gropman A, Lourenco C, Bamforth JS, Sharpe C, Pineda M, Schallner J, Bodamer O, Orcesi S, Oberstein SA, Sistermans EA, Yntema HG, Bonnemann C, Waldman AT, van der Knaap MS.

Am J Med Genet A. 2014 Mar;164A(3):627-33. doi: 10.1002/ajmg.a.36309. Epub 2013 Dec 20.

16.

Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.

Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E.

J Natl Cancer Inst. 2013 Nov 6;105(21):1607-16. doi: 10.1093/jnci/djt277. Epub 2013 Oct 17. Review.

PMID:
24136893
17.

PTEN germline mutations in patients initially tested for other hereditary cancer syndromes: would use of risk assessment tools reduce genetic testing?

Mester JL, Moore RA, Eng C.

Oncologist. 2013;18(10):1083-90. doi: 10.1634/theoncologist.2013-0174. Epub 2013 Sep 13.

18.

Endocrine tumors associated with neurofibromatosis type 1, Peutz-Jeghers syndrome and other familial neoplasia syndromes.

Kalkan E, Waguespack SG.

Front Horm Res. 2013;41:166-81. doi: 10.1159/000345676. Epub 2013 Mar 19. Review.

PMID:
23652677
19.

Genetic testing by cancer site: uterus.

Daniels MS.

Cancer J. 2012 Jul-Aug;18(4):338-42. doi: 10.1097/PPO.0b013e3182610cc2. Review.

PMID:
22846735
20.

PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.

Hopman SM, Van Rijn RR, Eng C, Bras J, Alders M, van der Horst CM, Hennekam RC, Merks JH.

Am J Med Genet A. 2012 Jul;158A(7):1719-23. doi: 10.1002/ajmg.a.35406. Epub 2012 May 24.

PMID:
22628360

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