Disease: Bannayan-Zonana syndrome
- A Case of Cowden Syndrome Presenting with Diverse Cutaneous Manifestations
- A New Frameshift Mutation of <em>PTEN</em> Gene Associated with Cowden Syndrome-Case Report and Brief Review of the Literature
- A New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome-Case Report and Brief Review of the Literature
- A rare case of oral squamous cell carcinoma in a patient with Cowden syndrome: Association or coincidence?
- AMBRA1 p.Gln30Arg Mutation, Identified in a Cowden Syndrome Family, Exhibits Hyperproliferative Potential in hTERT-RPE1 Cells
- Analysis of clinical features and genetic variant in a child with Cowden syndrome 1
- Anesthetic Considerations for an Adult With Bannayan-Riley-Ruvalcaba Syndrome: A Case Report
- Arteriovenous malformations as a presenting sign of PTEN hamartoma tumor syndrome: A case series
- Association between Cowden syndrome and Lhermitte-Duclos disease: A case report of an uncommon Genetic Hamartomatous Disorder
- Basaloid follicular hamartoma syndrome: acquired sporadic variant with hypothyroidism, hypohidrosis and alopecia, a rare case
- Benign goiters requiring thyroidectomy as the signal for PTEN hamartoma tumor syndrome diagnosis
- Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study
- Cancer Risk Associated With <em>PTEN</em> Pathogenic Variants Identified Using Multigene Hereditary Cancer Panel Testing
- Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome
- Case for diagnosis. Vascular malformations, hemihypertrophy and macrodactyly: Proteus 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
- Case report: Association between PTEN-gene variant and an aggressive case of multiple dAVFs
- Cell-free DNA fragmentomics and second malignant neoplasm risk in patients with PTEN hamartoma tumor syndrome
- Cerebellar phenotypes in germline PTEN mutation carriers
- Cerebriform Plaques in Proteus Syndrome
- Clinical and genetic diagnosis of Cowden syndrome: A case report of a rare PTEN germline variant and diverse clinical presentation
- Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma
- Clinical Guidelines for Diagnosis and Management of Cowden Syndrome/PTEN Hamartoma Tumor Syndrome in Children and Adults-Secondary Publication
- Clinical Spectrum and Science Behind the Hamartomatous Polyposis Syndromes
- Co-occurrence of Proteus syndrome and ventricular tachycardia cardiac arrest in a teenager
- Comparing synaptic proteomes across five mouse models for autism reveals converging molecular similarities including deficits in oxidative phosphorylation and Rho GTPase signaling
- Complications, treatment, and follow-up of peutz-jeghers syndrome: About 2 case reports
- Concurrent PTEN and PDGFRB Alterations Characterize Storiform Collagenoma
- Cowden Disease
- Cowden Disease
- Cowden Disease: A Review
- Detection and yield of thyroid cancer surveillance in adults with PTEN hamartoma tumour syndrome
- Development of informant-report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromes
- Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature
- Differential cell cycle checkpoint evasion by PTEN germline mutations associated with dichotomous phenotypes of cancer versus autism spectrum disorder
- Diffuse paediatric cerebellar glioma: two identical imaging phenotypes of an extremely rare entity with disparate pathology
- Diverse imaging findings of Lhermitte-Duclos disease
- Epilepsy in Cowden syndrome: beyond Lhermitte-Duclos disease
- Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant
- Functional analysis of PTEN variants of unknown significance from PHTS patients unveils complex patterns of PTEN biological activity in disease
- Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort
- Giant cell collagenoma in a patient with Cowden syndrome: A rare case report and literature review with a focus on the spectrum of sclerotic fibroma and giant cell collagenoma
- Giant cell collagenomas associated with Cowden syndrome: A case report
- Gingival Overgrowths Revealing <em>PTEN</em> Hamartoma Tumor Syndrome: Report of Novel <em>PTEN</em> Pathogenic Variants
- Gingival Overgrowths Revealing PTEN Hamartoma Tumor Syndrome: Report of Novel PTEN Pathogenic Variants
- Hamartomatous polyps: Diagnosis, surveillance, and management
- Histopathological spectrum of duodenal polyps in a retrospective ten-year study
- Identification of a novel pathogenic deep intronic variant in PTEN resulting in pseudoexon inclusion in a patient with juvenile polyps
- Identification of c.104T>G, p.Met35Arg (NM_00314.8) heterozygous variant in exon 2 of PTEN as the causative factor for Cowden syndrome: a medical case study
- Identification of c.104T>G, p.Met35Arg (NM_00314.8) heterozygous variant in exon 2 of PTEN as the causative factor for Cowden syndrome: a medical case study
- Jejunal venous malformations in Cowden syndrome: a case report
- Knowledge Mapping of Cowden Syndrome: a Bibliometric Analysis
- Lhermitte-Duclos Disease
- Lhermitte-Duclos Disease Related With Cowden Syndrome Mimicking Metastatic Lung Cancer on FDG PET/CT
- Lhermitte-Duclos disease with concomitant KCNT2 gene mutation: report of an extremely rare combination
- Lhermitte-Duclos disease with excessive calcification in a septuagenarian: A case report
- Lhermitte-Duclos Disease: A Rare Cerebellar Hamartoma Presenting Following Traumatic Brain Injury And A Review Of The Literature
- Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS)
- Lipomas: genetic basis of common skin lesions and their occurrence in rare diseases
- Long-term treatment of cancer-prone germline PTEN mutant mice with low-dose rapamycin extends lifespan and delays tumour development
- Longitudinal Analysis of Cancer Risk in Children and Adults With Germline PTEN Variants
- Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change
- Multimodal ocular imaging in Proteus syndrome
- Multiple fibrofolliculomas within a fibrous cephalic plaque in a patient with tuberous sclerosis
- Multiple rhabdomyomatous mesenchymal hamartomas in a patient with mosaic Barber-Say syndrome
- Narrow-band imaging with magnification for the diagnosis of colorectal adenoma in a patient with Cronkhite-Canada syndrome
- New Insights into Melanoma Tumor Syndromes
- Non-Odontogenic Tumors of the Jaws
- Non-Odontogenic Tumors of the Jaws
- Novel anti-PTEN C2 domain monoclonal antibodies to analyse the expression and function of PTEN isoform variants
- Novel dermatological and skeletal features associated with PTEN variant in PTEN hamartoma tumor syndrome
- Ophthalmic manifestations and treatments of proteus syndrome: a case report and systematic review
- Optic nerve compression: a rare ocular manifestation of Proteus syndrome
- Orofacial Manifestations in a Middle-Aged Woman with Cowden Syndrome: A Case Image
- Pallister-Hall syndrome, GLI3, and kidney malformation
- Pathologically confirmed pancreatic hamartoma after surgical resection with an aldosterone-producing adrenal tumor: a case report
- Peutz-Jeghers syndrome without <em>STK11</em> mutation may correlate with less severe clinical manifestations in Chinese patients
- Peutz-Jeghers syndrome without STK11 mutation may correlate with less severe clinical manifestations in Chinese patients
- Proteus syndrome with sciatic nerve fibrolipomatous hamartoma: an uncommon finding in a rare disease: report of two cases with literature review
- Proteus Syndrome: A Rare Disease Of Disproportionate And Asymmetric Overgrowth Of Connective Tissue
- PTEN hamartoma tumour syndrome: case report based on data from the Iranian hereditary colorectal cancer registry and literature review
- Quantification of Proteus syndrome-associated lung disease
- Recovery From Psychotic Disorder: A Surgical Case With Lhermitte-Duclos Disease
- 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"
- Sinonasal Neuroendocrine Carcinoma in Adult Proteus Syndrome
- Sirolimus treatment of a PTEN hamartoma tumor syndrome presenting with melena
- Solitary Peutz-Jeghers type harmartomatous polyp in duodenum with gastric foveolar epithelium: a case report
- Solitary Sclerotic Fibroma of Right Cerebellopontine Angle
- The mitochondrial genome as a modifier of autism versus cancer phenotypes in <em>PTEN</em> hamartoma tumor syndrome
- The mitochondrial genome as a modifier of autism versus cancer phenotypes in PTEN hamartoma tumor syndrome
- The yield and effectiveness of breast cancer surveillance in women with PTEN Hamartoma Tumor Syndrome
- Thyroid findings in pediatric and adult patients with PTEN hamartoma tumor syndrome: A retrospective analysis, and literature review
- Thyroid pathology, a clue to PTEN hamartoma tumor syndrome
- Total pancreatoduodenectomy for multiple pancreatic cysts in von Hippel-Lindau disease presenting as obstructive jaundice: A case report
- Toward a better understanding of PHTS heterogeneity: commentary on 'Cell-type specific deficits in PTEN-mutant cortical organoids converge on abnormal circuit activity'
- Utilizing PTEN immunohistochemistry as a screening test for Cowden syndrome
- Verrucous epidermal nevus as a manifestation of a type 2 mosaic PTEN mutation in Cowden syndrome
- Visceral adiposity in patients with lipomatous hypertrophy of the interatrial septum
- What is in a name-Perifollicular fibroma or fibrofolliculoma?
- Yield of annual endometrial cancer surveillance in women with PTEN Hamartoma Tumor Syndrome