Effects of bariatric surgery in individuals with PTEN Hamartoma Tumor Syndrome (PHTS): A systematic review.

Genomic modifiers of malignant and neurodevelopmental phenotypes in individuals with PTEN hamartoma tumor syndrome.

Epilepsy in pediatric patients with PTEN hamartoma tumor syndrome: First step in recommendations for clinical management.

Macrocephaly and Characteristic MRI Findings as Early Clues to a Hereditary Overgrowth Syndrome.

Cerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT-Like Syndromes: A Comparative Overview.

Cancer predisposition syndromes: an imaging review.

Radiation-Induced Papillomas in PTEN Hamartoma Tumor Syndrome.

A Novel PTEN Frameshift Variant in a Child With Autism Spectrum Disorder and Macrocephaly: A Case Report.

Population-based Characterization of PTEN Hamartoma Tumor Syndrome.

Hereditary Renal Cancer Syndromes: Clinicopathologic Features and Correlation With Tumors Harboring Somatic Mutations.

Genetic tumor syndromes in female cancer: insights into inherited cancer predisposition and clinical implications.

Complex Management of High-Flow Gastrointestinal Arteriovenous Malformation With Chronic Portomesenteric Thrombosis in PTEN Hamartoma Tumor Syndrome.

Unmasking familial follicular cell-derived thyroid neoplasms associated with syndromes: DICER1 and PTEN-hamartoma tumor syndromes.

A phase II study of the AKT inhibitor TAS-117 in patients with advanced solid tumors and germline PTEN mutations.

Sensitivity Analysis of the Efficacy of Everolimus for Neurocognitive Symptoms in PTEN Hamartoma Tumor Syndrome.

Cowden Syndrome With a Co-existing Lynch Syndrome Risk Mutation.

Sirolimus to treat chronic uveitis in PTEN hamartoma tumor syndrome: experience of a target therapy customized on specific disease pathway.

Bannayan-Riley-Ruvalcaba syndrome, etiology, clinical manifestations, diagnostic approaches, and current therapeutic measures: a narrative review.

Case Report: A case series of Lhermitte-Duclos disease with surgical intervention.

The genetic puzzle of FAP: exploring novel diagnostic approaches for APC/MUTYH-negative case.

The Value of Punching It Out: Patient With Cowden Syndrome and MALT Lymphoma of the Lung.

Ovarian vascular malformation - clinical presentation of Cowden syndrome.

Dermatologic Features of Endocrine Tumor Syndromes-Systematic Review and Meta-Analysis.

Paired DNA/RNA testing uncovers a deep intronic PTEN pathogenic variant associated with clinical Cowden Syndrome: a case report.

Characterizing Key Correlates of Sleep Problems Across Rare Neurodevelopmental Genetic Disorders.

Invasive breast carcinoma in a patient with PHTS: a case report.

Neurodevelopmental and Neurologic Manifestations of PTEN Hamartoma Tumor Syndrome: Management Recommendations.

Safe Airway Management in a Pediatric Case of PTEN Hamartoma Tumor Syndrome With Multiple Pharyngeal and Laryngeal Polyps: A Case Report.

Targeted RNA sequencing of thyroid tumors from individuals with PTEN hamartoma tumor syndrome reveals a unique transcriptome with a predominantly RAS-like expression profile.

When Benign Is Not Simple: Suspicious Thyroid Scintigraphy Revealing PTEN Hamartoma Tumor Syndrome in a Pediatric Patient.

Neurobehavioral Signatures in Overgrowth Intellectual Disability Syndromes: Dissecting Genotype-Phenotype Relationships in the PI3K-AKT-MTOR Pathway.

Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial Endpoints.

PTEN Hamartoma Tumor Syndrome/Cowden Syndrome With Diffuse Sebaceous Gland Hyperplasia: Description of an Atypical Phenotype and a Previously Undescribed Pathogenic Variant.

Enhancing and leveraging principal investigator and patient advocacy group collaboration in rare disease clinical research-meeting report from the rare Diseases Clinical Research Network.

Skin Signals: Exploring the Intersection of Cancer Predisposition Syndromes and Dermatological Manifestations.

Paraspinal Arteriovenous Shunt Associated with PTEN Hamartoma Tumor Syndrome: A Case Report and Literature Review.

[Advance in genetics research on Gastrointestinal polyposis syndromes].

Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies.

Lessons from the Oncology Clinic: Repurposing PI3K Pathway Inhibitors for the Treatment of PTEN Hamartoma Tumor Syndrome.

Atypical Manifestations of Cowden Syndrome in Pediatric Patients.

Hypertrophic Tongue Papillae in Cowden Syndrome/PTEN Hamartoma Tumor Syndrome.

Sirolimus for Colon Polyposis in PTEN Hamartoma Tumor Syndrome.

Metastatic Breast Cancer to a Dedifferentiated Solitary Fibrous Tumor Arising from a PTEN Hamartoma of Soft Tissue.

The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS).

Screening at the scope: enhancing the role of pathologists in diagnosing gastrointestinal polyposis syndromes.

Deep Phenotyping of Pathology-Confirmed Benign Lesions in PTEN Hamartoma Tumor Syndrome Patients.

Population Prevalence of the Major Thyroid Cancer-Associated Syndromes.

PTEN and novel TEK germline variants associated with the phenotypes of PTEN hamartoma tumor syndrome.

Somatic Uniparental Disomy of PTEN in Endothelial Cells Causes Vascular Malformations in Patients with PTEN Hamartoma Tumor Syndrome.

Papillary Tumor of the Pineal Region Identified by DNA Methylation Leads to the Incidental Finding of Germline Mutation PTEN G132D Associated with PTEN Hamartoma Tumor Syndrome: A Case Report and Systematic Review.

Non-serous ovarian cancer in PTEN Hamartoma Tumor Syndrome: additional evidence for increased risk.

Exploring MRI and Mammography Lesion Features for Breast Cancer Detection in PTEN Hamartoma Tumor Syndrome.

Phenotypic Variability of Cowden Syndrome Within a Single Family: Impact on Diagnosis, Management and Genetic Counselling.

A diagnostic challenge: A rare case of PTEN hamartoma of soft tissue of the mental region.

Extended spectrum of cancers in PTEN hamartoma tumor syndrome.

Pancreatic Mixed Acinar-neuroendocrine Carcinoma in a Patient With a Germline PTEN Variant: A Case Report and Genomic Literature Review.

Early-Onset Macrosomia, Advanced Brain Maturation, and Gonadoblastoid Testicular Dysplasia in a Fetus With a PTEN Variant.

Divergent PTEN-p53 interaction upon DNA damage in a human thyroid organoid model with germline PTEN mutations.

Phenotypic rescue via mTOR inhibition in neuron-specific Pten knockout mice reveals AKT and mTORC1-site specific changes.

Cancer and Overgrowth Manifestations of PTEN Hamartoma Tumor Syndrome: Management Recommendations from the International PHTS Consensus Guidelines Working Group.

Identification of a germline deep intronic PTEN-deletion leading to exonization through whole genome and targeted RNA sequencing.

Renal Neoplasia: Rare Subtypes and Uncommon Clinical Presentations.

Using cortical organoids to understand the pathogenesis of malformations of cortical development.

A Newborn with Cleft Palate Associated with PTEN Hamartoma Tumor Syndrome.

Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric, Version 3.2024, NCCN Clinical Practice Guidelines In Oncology.

Cancer and disease profiles for PTEN pathogenic variants in Japanese population.

Remote monitoring of social attention in neurogenetic syndromes and idiopathic neurodevelopmental disability.

Non-malignant features of cancer predisposition syndromes manifesting in childhood and adolescence: a guide for the general pediatrician.

Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1-Related Tumor Predisposition, and Tuberous Sclerosis Complex.

Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders.

Quantitative evaluation of DNA damage repair dynamics to elucidate predictors of autism vs. cancer in individuals with germline PTEN variants.

The Genomic Landscape of Benign and Malignant Thyroid Tumors from Individuals Carrying Germline PTEN Variants Is Distinct from Sporadic Thyroid Cancers.

A systematic review of Bannayan - Riley - Ruvalcaba syndrome.

Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome: A Systematic Review.

Breast Hamartoma With Synchronous Contralateral Breast Cancer: A Case Report.

Potentiation by Protein Synthesis Inducers of Translational Readthrough of Pathogenic Premature Termination Codons in PTEN Isoforms.

Sirolimus for vascular anomalies associated with PTEN hamartoma tumor syndrome.

A Bi-Institutional Study of Gastrointestinal and Hepatic Manifestations in Children With PTEN Hamartoma Tumor Syndrome.

Experience in a PTEN Hamartoma Tumor Syndrome Expertise Centre: Yield of Thyroid Ultrasound Surveillance in Children with PTEN Hamartoma Tumor Syndrome.

Treatment and Diagnostic Approach for Lhermitte-Duclos Disease and Suspected Cowden Syndrome.

Histopathological phenotyping of cancers in PTEN Hamartoma Tumor Syndrome for improved recognition: A single-center study.

Neuropsychological functioning of adults with PTEN hamartoma tumor syndrome.

Facial Features of Hereditary Cancer Predisposition.

Case report: Association between PTEN-gene variant and an aggressive case of multiple dAVFs.

Developmental and behavioral phenotypes of pediatric patients with PTEN hamartoma tumor syndrome.

Exploring the neurological features of individuals with germline PTEN variants: A multicenter study.

Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS).

PTEN hamartoma tumor syndrome: Clinical and genetic characterization in pediatric patients.

Cell-free DNA fragmentomics and second malignant neoplasm risk in patients with PTEN hamartoma tumor syndrome.

Sinonasal Neuroendocrine Carcinoma in Adult Proteus Syndrome.

Germline PTEN genotype-dependent phenotypic divergence during the early neural developmental process of forebrain organoids.

Differential cell cycle checkpoint evasion by PTEN germline mutations associated with dichotomous phenotypes of cancer versus autism spectrum disorder.

Clinical Guidelines for Diagnosis and Management of Cowden Syndrome/PTEN Hamartoma Tumor Syndrome in Children and Adults-Secondary Publication.

Arteriovenous malformations as a presenting sign of PTEN hamartoma tumor syndrome: A case series.

Orofacial Manifestations in a Middle-Aged Woman with Cowden Syndrome: A Case Image.

Lack of evidence for germline WWP1 pathogenic variants in gastrointestinal polyposis and other phenotypes suggestive of PTEN-hamartoma-tumor syndrome.

Lipomas: genetic basis of common skin lesions and their occurrence in rare diseases.

SHH medulloblastoma and very early onset of bowel polyps in a child with PTEN hamartoma tumor syndrome.

Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.

Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes.

Novel anti-PTEN C2 domain monoclonal antibodies to analyse the expression and function of PTEN isoform variants.

Integrating somatic CNV and gene expression in breast cancers from women with PTEN hamartoma tumor syndrome.

Case Report - Multinodular goiter in a patient with Congenital Hypothyroidism and Bannayan-Riley-Ruvalcaba syndrome: the possible synergic role of TPO and PTEN mutation.

Renal Neoplasia Occurring in Patients With PTEN Hamartoma Tumor Syndrome : Clinicopathologic Study of 12 Renal Cell Carcinomas From 9 Patients and Association With Intrarenal "Lipomas".

Novel dermatological and skeletal features associated with PTEN variant in PTEN hamartoma tumor syndrome.

Comparing synaptic proteomes across five mouse models for autism reveals converging molecular similarities including deficits in oxidative phosphorylation and Rho GTPase signaling.

The mitochondrial genome as a modifier of autism versus cancer phenotypes in PTEN hamartoma tumor syndrome.

Yield of annual endometrial cancer surveillance in women with PTEN Hamartoma Tumor Syndrome.

Longitudinal Analysis of Cancer Risk in Children and Adults With Germline PTEN Variants.

Case Series: Neurobehavioral Profile of Adolescents with PTEN Hamartoma Tumor Syndrome.

Development of informant-report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromes.

A Case of Cowden Syndrome Presenting with Diverse Cutaneous Manifestations.

Thyroid pathology, a clue to PTEN hamartoma tumor syndrome.

Nuclear PTEN's Functions in Suppressing Tumorigenesis: Implications for Rare Cancers.

How PTEN mutations degrade function at the membrane and life expectancy of carriers of mutations in the human brain.

Clinical Spectrum and Science Behind the Hamartomatous Polyposis Syndromes.

Thyroid findings in pediatric and adult patients with PTEN hamartoma tumor syndrome: A retrospective analysis, and literature review.

Gingival Overgrowths Revealing PTEN Hamartoma Tumor Syndrome: Report of Novel PTEN Pathogenic Variants.

Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change.

Comparative Protein Structural Network Analysis Reveals C-Terminal Tail Phosphorylation Structural Communication Fingerprint in PTEN-Associated Mutations in Autism and Cancer.

Occult lipomatosis of the nerve as part of macrodystrophia lipomatosa: illustrative case.

Functional analysis of PTEN variants of unknown significance from PHTS patients unveils complex patterns of PTEN biological activity in disease.

The yield and effectiveness of breast cancer surveillance in women with PTEN Hamartoma Tumor Syndrome.

Benign goiters requiring thyroidectomy as the signal for PTEN hamartoma tumor syndrome diagnosis.

New Insights into Melanoma Tumor Syndromes.

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.

Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome.

Verrucous epidermal nevus as a manifestation of a type 2 mosaic PTEN mutation in Cowden syndrome.

Cowden Disease: A Review.

Sirolimus treatment of a PTEN hamartoma tumor syndrome presenting with melena.

Nervous system (NS) Tumors in Cancer Predisposition Syndromes.

A phase II study of TAS-117 in patients with advanced solid tumors harboring germline PTEN-inactivating mutations.

Gastrointestinal manifestations in PTEN hamartoma tumor syndrome.

Exome sequencing reveals a distinct somatic genomic landscape in breast cancer from women with germline PTEN variants.

Looking closely at overgrowth: Constitutional mosaicism in PTEN hamartoma tumor syndrome.

Development and Progression of Thyroid Disease in PTEN Hamartoma Tumor Syndrome: Refined Surveillance Recommendations.

Clinicopathologic features of thyroid nodules with PTEN mutations on preoperative testing.

Unexpected actionable genetic variants revealed by multigene panel testing of patients with uterine cancer.

A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome.

Proteus-Like Syndrome: A Rare Phenotype of Phosphatase and Tensin Homolog Hamartoma Tumor Syndrome.

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 U.S. Multi-Society Task Force on Colorectal Cancer.

Identification and Somatic Characterization of the Germline PTEN Promoter Variant rs34149102 in a Family with Gastrointestinal and Breast Tumors.

The PTEN hamartoma tumor syndrome: how oral clinicians may save lives.

Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers.

Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Familial Tumor Syndromes.

Small integral membrane protein 10 like 1 downregulation enhances differentiation of adipose progenitor cells.

Neuroblastoma and cutaneous angiosarcoma in a child with PTEN hamartoma tumor syndrome.

Distinct metabolic profiles associated with autism spectrum disorder versus cancer in individuals with germline PTEN mutations.

Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).

Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.

Thyroid Follicular Cell-derived Carcinomas in a Background of Multiple Adenomatous Nodules Leading to a Diagnosis of PTEN Hamartoma Tumor Syndrome in an Adult Patient With a Novel RECQL4 Mutation.

PTEN hamartoma tumor syndrome in childhood and adolescence-a comprehensive review and presentation of the German pediatric guideline.

Characterizing dermatologic findings among patients with PTEN hamartoma tumor syndrome: Results of a multicenter cohort study.

Genotypic and Phenotypic Characteristics of Hereditary Colorectal Cancer.

Lateralized and Segmental Overgrowth in Children.

Overlapping Phenotypic Features of PTEN Hamartoma Tumor Syndrome and Birt-Hogg-Dubé Syndrome.

Cowden's syndrome diagnosed through oral lesions: A case report.

Proteus Syndrome: Case Report with Anatomopathological Correlation.

Formation of a de novo intracranial arteriovenous fistula in a child with PTEN hamartoma tumor syndrome.

PTEN Hamartoma Tumor Syndrome: Skin Manifestations and Insights Into Their Molecular Pathogenesis.

Dopaminergic Dysregulation in Syndromic Autism Spectrum Disorders: Insights From Genetic Mouse Models.

PTEN regulates adipose progenitor cell growth, differentiation, and replicative aging.

BCG Vaccine-Associated Complications in Patients with PTEN Hamartoma Tumor Syndrome.

Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.

Bannayan-Riley-Ruvalcaba syndrome with gingival hyperpigmentation and facial papules.

Interplay Between Class II HLA Genotypes and the Microbiome and Immune Phenotypes in Individuals With PTEN Hamartoma Tumor Syndrome.

Endoscopic Findings in Patients With PTEN Hamartoma Tumor Syndrome Undergoing Surveillance.

PTEN Hamartoma Tumor Syndrome/Cowden Syndrome: Genomics, Oncogenesis, and Imaging Review for Associated Lesions and Malignancy.

"Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)".

Hamartomatous polyposis syndrome associated malignancies: Risk, pathogenesis and endoscopic surveillance.

Distinguishing between PTEN clinical phenotypes through mutation analysis.

The Clinical Spectrum of PTEN Hamartoma Tumor Syndrome: Exploring the Value of Thyroid Surveillance.

A randomized double-blind controlled trial of everolimus in individuals with PTEN mutations: Study design and statistical considerations.

Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates.

Colorectal polyposis as a clue to the diagnosis of Cowden syndrome: Report of two cases and literature review.

Characterization and Childhood Tumor Risk Assessment of Genetic and Epigenetic Syndromes Associated With Lateralized Overgrowth.

Natural History of Thyroid Disease in Children with PTEN Hamartoma Tumor Syndrome.

PTEN Hamartoma Tumor Syndrome: A Case of Renal Cell Carcinoma in a Young Female.

A review on age-related cancer risks in PTEN hamartoma tumor syndrome.

Recommendations on Surveillance for Differentiated Thyroid Carcinoma in Children with PTEN Hamartoma Tumor Syndrome.

Cerebral MRI and Clinical Findings in Children with PTEN Hamartoma Tumor Syndrome: Can Cerebral MRI Scan Help to Establish an Earlier Diagnosis of PHTS in Children?

Cutaneous lipomas and macrocephaly as early signs of PTEN hamartoma tumor syndrome.

[Challenges of screening germline predispositions in children].

Germline PTEN mutations are associated with a skewed peripheral immune repertoire in humans and mice.

WWP1 Gain-of-Function Inactivation of PTEN in Cancer Predisposition.

An Integrated Deep-Mutational-Scanning Approach Provides Clinical Insights on PTEN Genotype-Phenotype Relationships.

A Premalignant Cell-Based Model for Functionalization and Classification of PTEN Variants.

PTEN hamartoma tumor syndrome in children: diagnosis based on cutaneous manifestations with a focus on translucent palmoplantar papules.

Predominant DICER1 Pathogenic Variants in Pediatric Follicular Thyroid Carcinomas.

Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with PTEN hamartoma tumor syndrome: A case report.

Brain morphological analysis in PTEN hamartoma tumor syndrome.

Clinical and molecular aspects of PTEN mutations in 10 pediatric patients.

Autism-associated PTEN missense mutation leads to enhanced nuclear localization and neurite outgrowth in an induced pluripotent stem cell line.

Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations.

Genome sequencing analysis of a family with a child displaying severe abdominal distention and recurrent hypoglycemia.

Imaging of PTEN-related abnormalities in the central nervous system.

Biomarker May Predict Cancer Versus Autism Risk in Pten Hamartoma Tumor Syndrome: Decreased levels of fumarate were more strongly associated with autism than cancer in persons with PTEN mutations.