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About 175 results

ALLMedicine™ Bannayan-Riley-Ruvalcaba Syndrome Center

Research & Reviews  87 results

PTEN Hamartoma Tumor Syndrome - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/phts/

Feb 10th, 2021 - The PTEN hamartoma tumor syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and PTEN-related Proteus-like syndrome.

Bannayan-Riley-Ruvalcaba syndrome
https://rarediseases.info.nih.gov/diseases/5887/bannayan-riley-ruvalcaba-syndrome

May 12th, 2020 - Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a genetic condition that leads to the growth of both non-cancerous and cancerous tumors. Symptoms of BRRS may include large head size, increased birth weight, developmental delay, and intellectual disabi...

Imaging of PTEN-related abnormalities in the central nervous system.
https://doi.org/10.1016/j.clinimag.2019.12.006
Clinical Imaging; Dhamija R, Hoxworth JM

Jan 13th, 2020 - The phosphatase and tensin homolog (PTEN) located at 10q23.31 is a tumor suppressor gene expressed ubiquitously, and loss of function mutations lead to aberrant growth, angiogenesis, and an increased risk for a variety of tumors. PTEN mutations ha...

Toward Systems Pathology for PTEN Diagnostics.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7197423
Cold Spring Harbor Perspectives in Medicine; Haddadi N, Travis G et. al.

Oct 16th, 2019 - Germline alterations of the tumor suppressor PTEN have been extensively characterized in patients with PTEN hamartoma tumor syndromes, encompassing subsets of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes, ...

PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature.
https://doi.org/10.1002/ajmg.c.31743
American Journal of Medical Genetics. Part C, Seminars In... Macken WL, Tischkowitz M et. al.

Oct 14th, 2019 - 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...

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Clinicaltrials.gov  87 results

PTEN Hamartoma Tumor Syndrome - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/phts/

Feb 10th, 2021 - The PTEN hamartoma tumor syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and PTEN-related Proteus-like syndrome.

Bannayan-Riley-Ruvalcaba syndrome
https://rarediseases.info.nih.gov/diseases/5887/bannayan-riley-ruvalcaba-syndrome

May 12th, 2020 - Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a genetic condition that leads to the growth of both non-cancerous and cancerous tumors. Symptoms of BRRS may include large head size, increased birth weight, developmental delay, and intellectual disabi...

Imaging of PTEN-related abnormalities in the central nervous system.
https://doi.org/10.1016/j.clinimag.2019.12.006
Clinical Imaging; Dhamija R, Hoxworth JM

Jan 13th, 2020 - The phosphatase and tensin homolog (PTEN) located at 10q23.31 is a tumor suppressor gene expressed ubiquitously, and loss of function mutations lead to aberrant growth, angiogenesis, and an increased risk for a variety of tumors. PTEN mutations ha...

Toward Systems Pathology for PTEN Diagnostics.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7197423
Cold Spring Harbor Perspectives in Medicine; Haddadi N, Travis G et. al.

Oct 16th, 2019 - Germline alterations of the tumor suppressor PTEN have been extensively characterized in patients with PTEN hamartoma tumor syndromes, encompassing subsets of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes, ...

PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature.
https://doi.org/10.1002/ajmg.c.31743
American Journal of Medical Genetics. Part C, Seminars In... Macken WL, Tischkowitz M et. al.

Oct 14th, 2019 - 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...

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News  1 results

Recurrent Cerebriform Connective Tissue Nevus on the Foot of a Patient With Proteus Syndrome
https://www.mdedge.com/dermatology/article/115831/pediatrics/recurrent-cerebriform-connective-tissue-nevus-foot-patient/page/0/1

Oct 18th, 2016 - To make a diagnosis of PS, one must have all the general criteria and various specific criteria. The revised diagnostic criteria for PS are given in the Table.

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