Disease: Ruvalcaba syndrome
- <em>PTEN</em> Hamartoma Tumor Syndrome: A Clinical Overview
- 65 YEARS OF THE DOUBLE HELIX: One gene, many endocrine and metabolic syndromes: <em>PTEN</em>-opathies and precision medicine
- A case of Bannayan-Riley-Ruvalcaba syndrome. A new clinical finding and brief review
- A case of Riley Ruvalcaba syndrome with a novel PTEN mutation accompanied by diffuse testicular microlithiasis and precocious puberty
- A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands
- A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome
- A rare case of Bannayan-Riley-Ruvalcaba syndrome with concurrent arteriovenous malformation
- A review on age-related cancer risks in PTEN hamartoma tumor syndrome
- Aggressive juvenile polyposis in children with chromosome 10q23 deletion
- An intronic polymorphic deletion in the PTEN gene: implications for molecular diagnostic testing
- Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model
- Anesthetic Considerations for an Adult With Bannayan-Riley-Ruvalcaba Syndrome: A Case Report
- Assessment of PTEN-associated vascular malformations in a patient with Bannayan-Riley-Ruvalcaba syndrome
- Autistic spectrum disorder in a 9-year-old girl with macrocephaly
- Bannayan Riley Ruvalcaba syndrome
- Bannayan Ruvalcaba Riley Syndrome
- Bannayan-Riley-Rubalcaba syndrome in pediatrics
- Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis in a two-year-old girl
- Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a <em>PTEN</em> Mutation Identified by Chromosomal Microarray Analysis: A Case Report
- Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report
- Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant--case report
- Bannayan-Riley-Ruvalcaba syndrome with gingival hyperpigmentation and facial papules
- Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis
- Bannayan-Riley-Ruvalcaba syndrome: an uncommon case of hematochezia in a 3-year-old boy
- Bannayan-Riley-Ruvalcaba syndrome: MRI neuroimaging features in a series of 7 patients
- Breast cancer risk and clinical implications for germline PTEN mutation carriers
- Breast magnetic resonance imaging: an overview for nonradiologists
- Brothers with germline PTEN mutations and persistent hypoglycemia, macrocephaly, developmental delay, short stature, and coagulopathy
- Case Report - Multinodular goiter in a patient with Congenital Hypothyroidism and Bannayan-Riley-Ruvalcaba syndrome: the possible synergic role of TPO and PTEN mutation
- Case report: Association between PTEN-gene variant and an aggressive case of multiple dAVFs
- Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome
- Chromosome 10q23 Deletion Syndrome: An Overlap of Bannayan-Riley-Ruvalcaba Syndrome and Juvenile Polyposis Syndrome
- Clinical and Cytometric Study of Immune Involvement in a Heterogeneous Cohort of Subjects With RASopathies and mTORopathies
- Clinical and molecular aspects of PTEN mutations in 10 pediatric patients
- Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome
- Cognitive characteristics of PTEN hamartoma tumor syndromes
- Colonic manifestations of PTEN hamartoma tumor syndrome: case series and systematic review
- Colorectal cancer risk in hamartomatous polyposis syndromes
- Complex combined vascular malformations and vascular malformation syndromes affecting the extremities in children
- Complex dural arteriovenous fistula in Bannayan-Riley-Ruvalcaba syndrome
- Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly
- Confluent Drusen in a Young Woman with Bannayan-Riley-Ruvalcaba Syndrome
- Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding
- Cowden syndrome: what oncology nurses need to know about increased risk of developing certain cancers
- Current status of familial gastrointestinal polyposis syndromes
- Cutaneous manifestations of gastrointestinal disease: part I
- De Novo <em>PTEN</em> Mutation in a Young Boy with Cutaneous Vasculitis
- Diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis syndromes: recommendations from the U.S. Multi-Society Task Force on Colorectal Cancer
- Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer
- Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer
- Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome
- Diffuse Gastrointestinal Polyposis in Bannayan-Riley-Ruvalcaba Syndrome: A Rare Phenotype Among Phosphatase and Tensin Homolog Hamartoma Tumor Syndromes
- Distinct Alterations in Tricarboxylic Acid Cycle Metabolites Associate with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome
- Esophageal cancer in a family with hamartomatous tumors and germline PTEN frameshift and SMAD7 missense mutations
- Gastrointestinal polyposis with associated cutaneous manifestations
- Genome sequencing analysis of a family with a child displaying severe abdominal distention and recurrent hypoglycemia
- George A. Bannayan, MD (1931-2021), the man behind Bannayan-Riley-Ruvalcaba syndrome
- Germline <em>TTN</em> variants are enriched in <em>PTEN</em>-wildtype Bannayan-Riley-Ruvalcaba syndrome
- Germline TTN variants are enriched in PTEN-wildtype Bannayan-Riley-Ruvalcaba syndrome
- Hamartomatous polyposis syndromes: a review
- Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome
- Identification of c.104T > G, p.Met35Arg (NM_00314.8) variant in heterozygosity in exon 2 of the PTEN gene as the Causative Factor for Cowden Syndrome: A Medical Case Study
- Imaging of PTEN-related abnormalities in the central nervous system
- Insights into Clinical Disorders in Cowden Syndrome: A Comprehensive Review
- Intermediate uveitis in a child with phosphatase and tensin homolog gene mutation and Bannayan-Riley-Ruvalcaba syndrome
- Lhermitte-Duclos disease with neurofibrillary tangles in heterotopic cerebral grey matter
- Lichen planus hypertrophicus-inversus occurring in a patient with Bannayan-Riley-Ruvalcaba syndrome
- Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A
- MOG-IgG1 and co-existence of neuronal autoantibodies
- Mucinous cystadenoma of ovary in a patient with juvenile polyposis due to 10q23 microdeletion: expansion of phenotype
- Muscle hemangiomatosis presenting as a severe feature in a patient with the pten mutation: expanding the phenotype of vascular malformations in bannayan-riley-ruvalcaba syndrome
- Novel dermatological and skeletal features associated with PTEN variant in PTEN hamartoma tumor syndrome
- Novel PTEN germline mutation in a family with mild phenotype: difficulties in genetic counseling
- Off-Label Use of Sirolimus and Everolimus in a Pediatric Center: A Case Series and Review of the Literature
- Oral manifestations of phosphatase and tensin homolog hamartoma tumor syndrome: a report of three cases
- Overgrowth Syndromes
- Perianal verrucous papules in a patient with Bannayan-Riley-Ruvalcaba syndrome
- Phosphatase and Tensin Homolog Hamartoma Tumor Syndrome: A Case Report
- Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome
- Practical genetics of colorectal cancer
- Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features
- PTEN gene: a model for genetic diseases in dermatology
- PTEN hamartoma of soft tissue: a distinctive lesion in PTEN syndromes
- PTEN hamartoma tumor syndrome
- PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature
- PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol
- PTEN Mutation Identified in Patient Diagnosed with Simultaneous Multiple Cancers
- Recurrent and extensive vascular malformations in a patient with Bannayan--Riley--Ruvalcaba syndrome
- Ruvalcaba syndrome revisited
- Say What? Bannayan-Riley-Ruvalcaba Syndrome Presenting with Gastrointestinal Bleeding Due to Hamartoma-Induced Intussusception
- Sirolimus treatment of a PTEN hamartoma tumor syndrome presenting with melena
- The Clinical Spectrum of <em>PTEN</em> Mutations
- Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome
- Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome
- Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity
- Torsion of a giant mesocolic lipoma in a child with Bannayan-Riley-Ruvalcaba syndrome
- Toward Systems Pathology for PTEN Diagnostics
- Treatment of intractable abdominal pain patient with Bannayan-Riley-Ruvalcaba syndrome using spinal cord stimulation
- Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations
- Vascular Anomaly Syndromes in the ISSVA Classification System: Imaging Findings and Role of Interventional Radiology in Management
