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Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients.

Riegert-Johnson DL, Gleeson FC, Roberts M, Tholen K, Youngborg L, Bullock M, Boardman LA.

Hered Cancer Clin Pract. 2010 Jun 17;8(1):6. doi: 10.1186/1897-4287-8-6.


Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.

Zhou XP, Marsh DJ, Morrison CD, Chaudhury AR, Maxwell M, Reifenberger G, Eng C.

Am J Hum Genet. 2003 Nov;73(5):1191-8. Epub 2003 Oct 17.


Cowden syndrome and Lhermitte-Duclos disease.

Albrecht S, Haber RM, Goodman JC, Duvic M.

Cancer. 1992 Aug 15;70(4):869-76. Review.


Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

Ngeow J, Stanuch K, Mester JL, Barnholtz-Sloan JS, Eng C.

J Clin Oncol. 2014 Jun 10;32(17):1818-24. doi: 10.1200/JCO.2013.53.6656. Epub 2014 Apr 28.


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.


Lhermitte-Duclos disease and Cowden disease: clinical and genetic study in five patients with Lhermitte-Duclos disease and literature review.

Pérez-Núñez A, Lagares A, Benítez J, Urioste M, Lobato RD, Ricoy JR, Ramos A, González P.

Acta Neurochir (Wien). 2004 Jul;146(7):679-90. Epub 2004 May 21. Review.


Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.

Ngeow J, Mester J, Rybicki LA, Ni Y, Milas M, Eng C.

J Clin Endocrinol Metab. 2011 Dec;96(12):E2063-71. doi: 10.1210/jc.2011-1616. Epub 2011 Sep 28.


PTEN inactivation by germline/somatic c.950_953delTACT mutation in patients with Lhermitte-Duclos disease manifesting progressive phenotypes.

Chen XY, Lu F, Wang YM, Yang Y, Wei GQ, Wu D, Wang LF, Wu YM.

Clin Genet. 2014 Oct;86(4):349-54. doi: 10.1111/cge.12282. Epub 2013 Oct 25.


Hidden association of Cowden syndrome, PTEN mutation and meningioma frequency.

Yakubov E, Ghoochani A, Buslei R, Buchfelder M, Eyüpoglu IY, Savaskan N.

Oncoscience. 2016 Jun 30;3(5-6):149-55. doi: 10.18632/oncoscience.305. eCollection 2016. Review.


Hereditary breast cancer associated with Cowden syndrome-related PTEN mutation with Lhermitte-Duclos disease.

Kimura F, Ueda A, Sato E, Akimoto J, Kaise H, Yamada K, Hosonaga M, Kawai Y, Teraoka S, Okazaki M, Ishikawa T.

Surg Case Rep. 2017 Dec;3(1):83. doi: 10.1186/s40792-017-0355-6. Epub 2017 Jul 24.


Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.

Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C.

Am J Hum Genet. 2008 Aug;83(2):261-8. doi: 10.1016/j.ajhg.2008.07.011.


Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis.

Robinson S, Cohen AR.

Neurosurgery. 2000 Feb;46(2):371-83.


Association of Lhermitte-Duclos and Cowden disease: report of a new case and review of the literature.

Vinchon M, Blond S, Lejeune JP, Krivosik I, Fossati P, Assaker R, Christiaens JL.

J Neurol Neurosurg Psychiatry. 1994 Jun;57(6):699-704. Review.


Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome.

Bennett KL, Mester J, Eng C.

JAMA. 2010 Dec 22;304(24):2724-31. doi: 10.1001/jama.2010.1877.


Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome.

Nieuwenhuis MH, Kets CM, Murphy-Ryan M, Yntema HG, Evans DG, Colas C, Møller P, Hes FJ, Hodgson SV, Olderode-Berends MJ, Aretz S, Heinimann K, Gómez García EB, Douglas F, Spigelman A, Timshel S, Lindor NM, Vasen HF.

Fam Cancer. 2014 Mar;13(1):57-63. doi: 10.1007/s10689-013-9674-3.


Brain magnetic resonance imaging in patients with Cowden syndrome.

Lok C, Viseux V, Avril MF, Richard MA, Gondry-Jouet C, Deramond H, Desfossez-Tribout C, Courtade S, Delaunay M, Piette F, Legars D, Dreno B, Saïag P, Longy M, Lorette G, Laroche L, Caux F; Cancerology Group of the French Society of Dermatology.

Medicine (Baltimore). 2005 Mar;84(2):129-36.


Dysphagia and Neck Swelling in a Case of Undiagnosed Lhermitte-Duclos Disease and Cowden Syndrome.

Hu ZI, Bangiyev L, Seidman RJ, Cohen JA.

Case Rep Oncol Med. 2015;2015:546297. doi: 10.1155/2015/546297. Epub 2015 Sep 10.


Cowden syndrome and the associated Lhermitte-Duclos disease--Case presentation.

Stępniak I, Trojanowski T, Drelich-Zbroja A, Willems P, Zaremba J.

Neurol Neurochir Pol. 2015;49(5):339-43. doi: 10.1016/j.pjnns.2015.07.005. Epub 2015 Jul 30.


Genetic basis of Cowden syndrome and its implications for clinical practice and risk management.

Gammon A, Jasperson K, Champine M.

Appl Clin Genet. 2016 Jul 13;9:83-92. doi: 10.2147/TACG.S41947. eCollection 2016. Review.

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