Disease: Trichorhinophalangeal syndrome type 1
- A Missense Mutation in <em>TRPS1</em> in a Family with Trichorhinophalangeal Syndrome Type III Accompanied by Ankylosing Spondylitis
- A Missense Mutation in TRPS1 in a Family with Trichorhinophalangeal Syndrome Type III Accompanied by Ankylosing Spondylitis
- A novel base pair deletion in the TRPS1 gene in a Japanese patient with trichorhinophalangeal syndrome
- A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family
- A novel missense mutation in exon 3 of the TRPS1 gene in a patient with a mild phenotype of tricho-rhino-phalangeal syndrome type 1
- A novel mutation in TRPS1 in a patient with tricho-rhino-phalangeal syndrome type 1, accompanied by vesicoureteral reflux
- A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature
- A novel TRPS1 mutation in a family with tricho-rhino-phalangeal syndrome type 1
- A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report
- A pilot study: Comparison of TRPS1 and GATA3 immunoperoxidase staining using cytologic smears in entities reportedly positive for GATA3
- An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
- An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4
- An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy
- An interstitial, apparently-balanced chromosomal insertion in the etiology of Langer-Giedion syndrome in an Asian family
- Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion
- Association of TRPS1 gene with different EMT markers in ERα-positive and ERα-negative breast cancer
- Characterization of a Novel Frameshift Mutation Within the TRPS1 Gene Causing Trichorhinophalangeal Syndrome Type 1 in a Kindred Cypriot Family
- Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants
- Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency
- Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression
- Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient
- Cone-shaped epiphysis
- Crooked fingers and sparse hair: an interesting case of trichorhinophalangeal syndrome type 1
- Diagnostic utility and sensitivities of matrix Gla protein (MGP), TRPS1 and GATA3 in breast cancer: focusing on metastatic breast cancer, invasive breast carcinoma with special features, and salivary gland-type tumours
- Do microdeletions lead to immune deficiency?
- Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report
- Dual role of the Trps1 transcription factor in dentin mineralization
- Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal Syndrome
- Erratum to: An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4
- Evaluation of TRPS1 Expression in Pleural Effusion Cytology Specimens With Metastatic Breast Carcinoma
- Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant
- Identification of two novel mutations in TRPS1 gene in families with tricho-rhino-phalangeal type I syndrome
- Immunohistochemical expression of TRPS1 in mammary Paget disease, extramammary Paget disease, and their close histopathologic mimics
- Impaired GH secretion in patients with SHOX deficiency and efficacy of recombinant human GH therapy
- Langer-Giedion syndrome with 8q23.1-q24.12 deletion diagnosed by comparative genomic hybridization
- Late Presentation of Tricho-Rhino-Phalangeal Syndrome (TRPS1 Affected) Associated Hip Pathology
- Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4
- Making extra teeth: Lessons from a TRPS1 mutation
- Matrix Gla protein (MGP), GATA3, and TRPS1: a novel diagnostic panel to determine breast origin
- miR-221/222 targets adiponectin receptor 1 to promote the epithelial-to-mesenchymal transition in breast cancer
- Mixed Phenotype of Langer-Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without <em>TRPS1</em> Deletion
- Mixed Phenotype of Langer-Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without TRPS1 Deletion
- Molecular Genetic Analysis and Growth Hormone Treatment in a Three-Generation Chinese Family with Tricho-Rhino-Phalangeal Syndrome I
- Mucinous cystadenocarcinoma of the breast harbours TRPS1 expressions and PIK3CA alterations
- New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
- Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report
- Novel deletion mutation of TRPS1 gene in a Chinese patient of trichorhinophalangeal syndrome type I
- Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency
- Painless lumps in the proximal interphalangeal joints in tricho-rhino-phalangeal syndrome type 1
- Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes
- Pro‑differentiating compounds for human intervertebral disc cells are present in Violina pumpkin leaf extracts
- Recombinant Human Growth Hormone Therapy for Childhood Trichorhinophalangeal Syndrome Type I: A Case Report
- Severity Scoring Cutoff for MLPA and Its Diagnostic Yield in 332 North Indian Children with Developmental Delay
- Should Patients with Trichorhinophalangeal Syndrome be Tested for Growth Hormone Deficiency?
- Skeletal abnormalities of tricho-rhino-phalangeal syndrome type I
- Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling
- Subtyping of triple-negative breast cancers: its prognostication and implications in diagnosis of breast origin
- Successful topical minoxidil treatment for hair density and length in trichorhinophalangeal syndrome type 1
- Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events
- The diagnostic utility of trichorhinophalangeal syndrome type 1 immunohistochemistry for metastatic breast carcinoma in effusion cytology specimens
- The Role of Tricho-Rhino-Phalangeal Syndrome (TRPS) 1 in Apoptosis during Embryonic Development and Tumor Progression
- The use of cone beam computed tomography for the assessment of trichorhinophalangeal syndrome, type I - a case report
- Traumatic bone cyst of the mandible in Langer-Giedion syndrome: a case report
- Tricho-rhino-phalangeal syndrome 1 protein functions as a scaffold required for ubiquitin-specific protease 4-directed histone deacetylase 2 de-ubiquitination and tumor growth
- Tricho-rhino-phalangeal syndrome type 1 as an outcome of in vitro fertilization?
- Trichorhinophalangeal syndrome
- Trichorhinophalangeal syndrome as a diagnostic and therapeutic challenge for paediatric endocrinologists
- Trichorhinophalangeal Syndrome Orthopaedic Manifestations and Management: A Systematic Review
- Trichorhinophalangeal syndrome type 1 (Giedion syndrome): A case report with literature review
- Trichorhinophalangeal syndrome type 1 (TRPS1) expression in male breast carcinoma
- Trichorhinophalangeal Syndrome Type 1 Immunohistochemical Expression in Carcinomas of Gynecologic Origin
- Trichorhinophalangeal Syndrome Type 1 Is a Highly Sensitive and Specific Marker for Diagnosing Triple-Negative Breast Carcinomas on Cytologic Samples
- Trichorhinophalangeal Syndrome Type 1-Positive Cells in Breast Dermal Granulation Tissues and Scars: A Potential Diagnostic Pitfall
- Trichorhinophalangeal syndrome type 1: A case report with literature review
- Trichorhinophalangeal syndrome type I associated with imperforate hymen
- Trichorhinophalangeal syndrome type I--clinical, microscopic, and molecular features
- Trichorhinophalangeal syndrome type I: a novel mutation and Perthes-like changes of the hip in a family with 4 cases over 3 generations
- Trichorhinophalangeal syndrome type II presenting with short stature in a child
- Tricorhinophalangeal Syndrome type 1: a novel variant and Perthes-like hip changes as first manifestation
- Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis
- Trps1 deficiency inhibits the morphogenesis of secondary hair follicles via decreased Noggin expression
- Trps1 differentially modulates the bone mineral density between male and female mice and its polymorphism associates with BMD differently between women and men
- TRPS1 expression in cytokeratin 5 expressing triple negative breast cancers, its value as a marker of breast origin
- TRPS1 expression in MPNST is correlated with PRC2 inactivation and loss of H2K27me3
- TRPS1 expression in MPNST is correlated with PRC2 inactivation and loss of H3K27me3
- TRPS1 expression in non-melanocytic cutaneous neoplasms: an immunohistochemical analysis of 200 cases
- TRPS1 expression in primary and metastatic prostatic adenocarcinoma, muscle invasive bladder urothelial carcinoma, and breast carcinoma: Is TRPS1 truly specific and sensitive for a breast primary?
- TRPS1 expression promotes angiogenesis and affects VEGFA expression in breast cancer
- TRPS1 function beyond breast: A retrospective immunohistochemical study on non-breast cytology specimens
- TRPS1 gene alterations in human subependymoma
- TRPS1 is a Highly Sensitive Marker for Breast Cancer: A Tissue Microarray Study Evaluating More Than 19,000 Tumors From 152 Different Tumor Entities
- TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology
- TRPS1 outperforms GATA3 in pleural effusions with metastatic breast carcinoma versus mesothelioma
- TRPS1: a highly sensitive and specific marker for breast carcinoma, especially for triple-negative breast cancer
- TRPS1: A Marker of Follicular Differentiation
- Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations
- Type I Trichorhinophalangeal Syndrome - Rare, but Catchy
- Use of Multiple Machine Learning Approaches for Selecting Urothelial Cancer-Specific DNA Methylation Biomarkers in Urine
- Utility of TRPS-1 immunohistochemistry in diagnosis of metastatic breast carcinoma in cytology specimens
- Utility of TRPS1 in Malignant Effusion Cytology