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1989 1
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Page 1
The Clinical Spectrum of PTEN Mutations.
Yehia L, Keel E, Eng C. Yehia L, et al. Annu Rev Med. 2020 Jan 27;71:103-116. doi: 10.1146/annurev-med-052218-125823. Epub 2019 Aug 21. Annu Rev Med. 2020. PMID: 31433956 Review.
PTEN dysfunction causes dysregulation of this and other pathways, resulting in overgrowth. Cowden syndrome, a hereditary cancer predisposition and overgrowth disorder, was the first Mendelian condition associated with germline PTEN mutations. ...With time, it became eviden …
PTEN dysfunction causes dysregulation of this and other pathways, resulting in overgrowth. Cowden syndrome, a hereditary cancer predi …
Cowden syndrome.
Gustafson S, Zbuk KM, Scacheri C, Eng C. Gustafson S, et al. Semin Oncol. 2007 Oct;34(5):428-34. doi: 10.1053/j.seminoncol.2007.07.009. Semin Oncol. 2007. PMID: 17920899 Review.
Cowden syndrome (CS), due to germline mutations of the PTEN tumor-suppressor gene, is an often overlooked cancer predisposition syndrome associated with an increased risk of breast, thyroid, and endometrial cancers, as well as benign manifestations. Germline PTEN mu …
Cowden syndrome (CS), due to germline mutations of the PTEN tumor-suppressor gene, is an often overlooked cancer predisposition sy …
Gastrointestinal polyposis with associated cutaneous manifestations.
Duarte M, Milikowski C. Duarte M, et al. Pathology. 2022 Mar;54(2):157-166. doi: 10.1016/j.pathol.2021.08.009. Epub 2021 Nov 9. Pathology. 2022. PMID: 34763900 Review.
Some involve a single organ system, while others involve multiple organs of the gastrointestinal tract. In this review, we have focused on Lynch syndrome (hereditary nonpolyposis colon cancer and Muir-Torre syndrome), familial adenomatous polyposis, the hamartomatou …
Some involve a single organ system, while others involve multiple organs of the gastrointestinal tract. In this review, we have focused on L …
PTEN hamartoma tumor syndrome.
Mester J, Charis E. Mester J, et al. Handb Clin Neurol. 2015;132:129-37. doi: 10.1016/B978-0-444-62702-5.00009-3. Handb Clin Neurol. 2015. PMID: 26564076 Review.
PTEN hamartoma tumor syndrome (PHTS) is the molecular diagnostic term describing patients with Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and other clinical presentations with germline mutation of the PTEN tumor suppressor gene. ...
PTEN hamartoma tumor syndrome (PHTS) is the molecular diagnostic term describing patients with Cowden syndrome, Bannayan-Riley …
PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature.
Macken WL, Tischkowitz M, Lachlan KL. Macken WL, et al. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):591-610. doi: 10.1002/ajmg.c.31743. Epub 2019 Oct 14. Am J Med Genet C Semin Med Genet. 2019. PMID: 31609537 Review.
PTEN hamartoma tumor syndrome (PHTS) is a highly variable autosomal dominant condition associated with intellectual disability, overgrowth, and tumor predisposition phenotypes, which often overlap. PHTS incorporates a number of historical clinical presentations including B …
PTEN hamartoma tumor syndrome (PHTS) is a highly variable autosomal dominant condition associated with intellectual disability, overg …
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. Stanich PP, et al. World J Gastroenterol. 2014 Feb 21;20(7):1833-8. doi: 10.3748/wjg.v20.i7.1833. World J Gastroenterol. 2014. PMID: 24587660 Free PMC article. Review.
AIM: To investigate our clinical experience with the colonic manifestations of phosphatase and tensin homolog on chromosome ten (PTEN) hamartoma tumor syndrome (PHTS) and to perform a systematic literature review regarding the same. ...A clinical genetics database was sear …
AIM: To investigate our clinical experience with the colonic manifestations of phosphatase and tensin homolog on chromosome ten (PTEN) hamar …
Imaging of PTEN-related abnormalities in the central nervous system.
Dhamija R, Hoxworth JM. Dhamija R, et al. Clin Imaging. 2020 Apr;60(2):180-185. doi: 10.1016/j.clinimag.2019.12.006. Epub 2019 Dec 24. Clin Imaging. 2020. PMID: 31927175 Review.
PTEN mutations have been associated with multiple abnormalities in the central nervous system, and a number of clinical phenotypes are now attributed to germline PTEN mutations, collectively referred to as PTEN hamartoma tumor syndrome (PHTS). Most notably, these include C …
PTEN mutations have been associated with multiple abnormalities in the central nervous system, and a number of clinical phenotypes are now a …
Recurrent and extensive vascular malformations in a patient with Bannayan--Riley--Ruvalcaba syndrome.
Litzendorf M, Hoang K, Vaccaro P. Litzendorf M, et al. Ann Vasc Surg. 2011 Nov;25(8):1138.e15-9. doi: 10.1016/j.avsg.2011.05.022. Epub 2011 Aug 19. Ann Vasc Surg. 2011. PMID: 21856113 Review.
Bannayan--Riley--Ruvalcaba syndrome (BRRS) is a rare, usually autosomal dominant, disease associated with the PTEN hamartoma tumor syndrome, and it is clinically diagnosed in the presence of the triad of macrocephaly, genital lentiginosis, and intestinal poly …
Bannayan--Riley--Ruvalcaba syndrome (BRRS) is a rare, usually autosomal dominant, disease associated with the PTEN hamartoma t …
An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family.
Perriard J, Saurat JH, Harms M. Perriard J, et al. J Am Acad Dermatol. 2000 Feb;42(2 Pt 2):348-50. doi: 10.1016/s0190-9622(00)90109-9. J Am Acad Dermatol. 2000. PMID: 10640930 Review.
We describe a family with the unusual association of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome. The father has characteristic mucocutaneous features that are palmoplantar keratoses, multiple facial papules, oral papillomatoses, lipomas, and vitiligo wit …
We describe a family with the unusual association of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome. The father has ch …
29 results