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2,304 results

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Page 1
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L, Ni Y, Sesock K, Niazi F, Fletcher B, Chen HJL, LaFramboise T, Eng C. Yehia L, et al. PLoS Genet. 2018 Apr 23;14(4):e1007352. doi: 10.1371/journal.pgen.1007352. eCollection 2018 Apr. PLoS Genet. 2018. PMID: 29684080 Free PMC article.
Patients with heritable cancer syndromes characterized by germline PTEN mutations (termed PTEN hamartoma tumor syndrome, PHTS) benefit from PTEN-enabled cancer risk assessment and clinical management. ...We conducted a 4-year multicenter prospective study of inciden …
Patients with heritable cancer syndromes characterized by germline PTEN mutations (termed PTEN hamartoma tumor syndrome, PHTS) …
Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome.
Ghusayni R, Sachdev M, Gallentine W, Mikati MA, McDonald MT. Ghusayni R, et al. Epileptic Disord. 2018 Feb 1;20(1):30-34. doi: 10.1684/epd.2018.0954. Epileptic Disord. 2018. PMID: 29444762
Here, we report a patient with Bannayan-Riley-Ruvalcaba syndrome who also had hemimegalencephaly and in whom the hemimegalencephaly was evident well before presentation of the characteristic manifestations of Bannayan-Riley-Ruvalcaba …
Here, we report a patient with Bannayan-Riley-Ruvalcaba syndrome who also had hemimegalencephaly and in whom the …
Bannayan-Riley-Ruvalcaba syndrome with gingival hyperpigmentation and facial papules.
Niklinska EB, Lyons EM, Hicks A, Zwerner JP, Albers SE. Niklinska EB, et al. Pediatr Dermatol. 2021 Sep;38(5):1351-1353. doi: 10.1111/pde.14691. Epub 2021 Jul 14. Pediatr Dermatol. 2021. PMID: 34259361
One of the distinctive cutaneous manifestations of Bannayan-Riley-Ruvalcaba syndrome (BRRS), a PTEN hamartoma tumor syndrome, is penile pigmented macules. We present a 13-year-old boy with gingival hyperpigmentation along with facial and …
One of the distinctive cutaneous manifestations of Bannayan-Riley-Ruvalcaba syndrome (BRRS), a PTEN hamartoma …
A systematic review of Bannayan - Riley - Ruvalcaba syndrome.
Kapačinskaitė M, Stratica N, Adomaitienė I, Rascon J, Vaišnytė B. Kapačinskaitė M, et al. Sci Rep. 2024 Sep 10;14(1):21119. doi: 10.1038/s41598-024-71991-2. Sci Rep. 2024. PMID: 39256443 Free PMC article.
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare overgrowth condition caused by a pathogenic variant in the phosphatase and tensin homolog (PTEN) gene and belongs to a group of disorders called PTEN hamartoma tumor syndrome (PHTS). ...
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare overgrowth condition caused by a pathogenic variant in the ph …
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, lipo …
We describe a family with the unusual association of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome. The …
Bannayan Riley Ruvalcaba syndrome.
Latiff ZA, Atmawidjaja RW, RajaLope RJ, Syed Omar SA, Syed Zakaria SZ, Jamal RA. Latiff ZA, et al. Ann Acad Med Singap. 2010 Jul;39(7):578-2. Ann Acad Med Singap. 2010. PMID: 20697678 Free article. No abstract available.
Bannayan-Riley-Ruvalcaba syndrome: MRI neuroimaging features in a series of 7 patients.
Bhargava R, Au Yong KJ, Leonard N. Bhargava R, et al. AJNR Am J Neuroradiol. 2014 Feb;35(2):402-6. doi: 10.3174/ajnr.A3680. Epub 2013 Aug 1. AJNR Am J Neuroradiol. 2014. PMID: 23907246 Free PMC article.
Bannayan-Riley-Ruvalcaba syndrome is a congenital disorder characterized by macrocephaly, intestinal polyposis, lipomas, and pigmented macules of the penis. ...All brain MR imaging studies were reviewed in patients with a diagnosis of Bannayan- …
Bannayan-Riley-Ruvalcaba syndrome is a congenital disorder characterized by macrocephaly, intestinal polyposis, …
[Bannayan-Riley-Rubalcaba syndrome in pediatrics].
Sainz de la Peña-Hernández B, Guillén-Palacios BE. Sainz de la Peña-Hernández B, et al. Bol Med Hosp Infant Mex. 2021 Apr 27;78(3):245-250. doi: 10.24875/BMHIM.20000172. Bol Med Hosp Infant Mex. 2021. PMID: 33906215 Free article. Spanish.
2,304 results