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Items: 1 to 20 of 115

1.

Cowden Syndrome with a Novel PTEN Mutation Presenting with Partial Epilepsy Related to Focal Cortical Dysplasia.

Adachi T, Takigawa H, Nomura T, Watanabe Y, Kowa H.

Intern Med. 2018 Jan 1;57(1):97-99. doi: 10.2169/internalmedicine.9052-17. Epub 2017 Oct 16.

2.

An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy.

Elia M, Amato C, Bottitta M, Grillo L, Calabrese G, Esposito M, Carotenuto M.

Brain Dev. 2012 Nov;34(10):873-6. doi: 10.1016/j.braindev.2012.03.005. Epub 2012 Apr 1.

PMID:
22469695
3.

Atypical focal cortical dysplasia in a patient with Cowden syndrome.

Cheung KM, Lam CW, Chan YK, Siu WK, Yong L.

Hong Kong Med J. 2014 Apr;20(2):165-7. doi: 10.12809/hkmj133863.

4.

Mystery case: Cowden syndrome presenting with partial epilepsy related to focal cortical dysplasia.

Child ND, Cascino GD.

Neurology. 2013 Sep 24;81(13):e98-9. doi: 10.1212/WNL.0b013e3182a55ef0.

5.

Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding.

O'Rourke DJ, Twomey E, Lynch SA, King MD.

Clin Dysmorphol. 2012 Apr;21(2):91-2. doi: 10.1097/MCD.0b013e328351639d. No abstract available.

PMID:
22327138
6.

Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view.

van der Velden JJ, Vreeburg M, Smeets EE, Schrander-Stumpel CT, van Steensel MA.

Int J Dermatol. 2008 Nov;47 Suppl 1:45-8. doi: 10.1111/j.1365-4632.2008.03960.x.

PMID:
18986487
7.

Cowden syndrome: clinical case and a brief review.

Lopes S, Vide J, Moreira E, Azevedo F.

Dermatol Online J. 2017 Aug 15;23(8). pii: 13030/qt0023k3x0. Review.

8.

Multiple Intracranial Arteriovenous Fistulas in Cowden Syndrome.

Prats-Sánchez LA, Hervás-García JV, Becerra JL, Lozano M, Castaño C, Munuera J, Escudero D, García-Esperón C.

J Stroke Cerebrovasc Dis. 2016 Jun;25(6):e93-4. doi: 10.1016/j.jstrokecerebrovasdis.2016.03.048. Epub 2016 Apr 19.

PMID:
27105569
9.

How to recognize Cowden syndrome: A novel PTEN mutation description.

Delannoy P, Debray FG, Verloes A, Beckers A, Valdes-Socin H.

Ann Endocrinol (Paris). 2017 Jul;78(3):188-190. doi: 10.1016/j.ando.2017.01.001. Epub 2017 Mar 2. No abstract available.

PMID:
28262255
10.

Cowden syndrome presenting as breast cancer: imaging and clinical features.

Seo M, Cho N, Ahn HS, Moon HG.

Korean J Radiol. 2014 Sep-Oct;15(5):586-90. doi: 10.3348/kjr.2014.15.5.586. Epub 2014 Sep 12.

11.

Arteriovenous malformations in Cowden syndrome.

Turnbull MM, Humeniuk V, Stein B, Suthers GK.

J Med Genet. 2005 Aug;42(8):e50.

12.

First report of ovarian dysgerminoma in Cowden syndrome with germline PTEN mutation and PTEN-related 10q loss of tumor heterozygosity.

Cho MY, Kim HS, Eng C, Kim DS, Kang SJ, Eom M, Yi SY, Bronner MP.

Am J Surg Pathol. 2008 Aug;32(8):1258-64. doi: 10.1097/PAS.0b013e31816be8b7.

PMID:
18594467
13.

Novel Germline PTEN Mutation Associated with Cowden Syndrome and Osteosarcoma.

Lopez C, Abuel-Haija M, Pena L, Coppola D.

Cancer Genomics Proteomics. 2018 Mar-Apr;15(2):115-120.

14.

A case of Cowden syndrome diagnosed from multiple gastric polyposis.

Ha M, Chung JW, Hahm KB, Kim YJ, Lee W, An J, Kim DK, Kim MG.

World J Gastroenterol. 2012 Feb 28;18(8):861-4. doi: 10.3748/wjg.v18.i8.861.

15.

Multiple sclerotic fibromas of the skin: an important clue for the diagnosis of Cowden syndrome.

Kieselova K, Santiago F, Henrique M, Cunha MF.

BMJ Case Rep. 2017 Aug 28;2017. pii: bcr-2017-221695. doi: 10.1136/bcr-2017-221695.

16.

PTEN mosaicism with features of Cowden syndrome.

Gammon A, Jasperson K, Pilarski R, Prior T, Kuwada S.

Clin Genet. 2013 Dec;84(6):593-5. doi: 10.1111/cge.12078. Epub 2013 Jan 20.

PMID:
23240978
17.

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.

18.

[Cowden syndrome can be a challenging diagnosis].

Skytte AB, Gerdes AM, Bygum A.

Ugeskr Laeger. 2014 Jan 20;176(2):162-5. Review. Danish.

PMID:
24629684
19.

Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice.

Matsushita Y, Sakai Y, Shimmura M, Shigeto H, Nishio M, Akamine S, Sanefuji M, Ishizaki Y, Torisu H, Nakabeppu Y, Suzuki A, Takada H, Hara T.

Sci Rep. 2016 Mar 10;6:22991. doi: 10.1038/srep22991. Erratum in: Sci Rep. 2016 Jun 10;6:27164.

20.

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