A Complex Case of Langer-Giedion Syndrome, Cornelia de Lange Syndrome Type 4, and Hereditary Multiple Osteochondromas with Mosaic 8q23.1-q24.12 Deletion.

Phenotypic Spectrum in Three Romanian Patients with 8q23-q24 Deletions.

The evolving role of TRPS1 in dermatopathology: insights from the past 4 years.

Diagnostic and prognostic inferences of Tricho-rhino-phalangeal Syndrome 1 (TRPS1) protein immunohistochemical expression in primary epithelial ovarian cancers.

Longitudinal Syringomyelia, Cervical Dystonia, and Action Tremor in Trichorhinophalangeal Syndrome Type I - A Case Report.

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies.

Maternal UPD(20) Leading to Mulchandani-Bhoj-Conlin Syndrome: A Rare Neonatal Case With Additional TRPS1 Deletion.

Clinical and Trichoscopy Features in Trichorhinophalangeal Syndrome: A Multicenter Retrospective Study.

A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene.

Genetic Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey.

TRPS1 expression in 451 tubo-ovarian tumours: a potential prognostic marker for high-grade serous carcinoma.

The Diagnostic Role of TFF1, TFF3, FOXA1, CA XII and TRPS1 in Serous Effusions.

Trichorhinophalangeal syndrome type 1 (TRPS1) in breast pathology: diagnostic utility and pitfalls.

Trps1 regulates mouse zygotic genome activation and preimplantation embryo development via the PDE4D/AKT/CREB signaling pathway.

TRPS1 is a useful marker in differentiating metastatic breast carcinoma from pancreatic adenocarcinoma in fine-needle aspiration specimens.

TRPS1 expression in cytologic specimens of salivary duct carcinoma and other salivary gland tumors.

A Comprehensive Review of TRPS1 as a Diagnostic Immunohistochemical Marker for Primary Breast Carcinoma: Latest Insights and Diagnostic Pitfalls.

When an Overwhelming Number of Supernumerary Teeth Provides an Alternative to the Diagnosis of Trichorhinophalangeal Syndrome.

Breast cancer with cervix, lung and neck metastases: a case report and literature review.

[Tricho-rhino-phalangeal syndrome with TRPS1 gene variation in 3 children].

Trichorhinophalangeal syndrome 1 expression in breast and nonbreast metastases from Müllerian, lung, gastrointestinal tract, and pancreatic primary tumors by immunohistochemistry with cytology cell block specimens.

TRPS1, a sensitive marker for different histological and molecular types of breast cancer.

Deciphering Breast Origin in Malignant Effusions: The Diagnostic Utility of an MGP, GATA-3, and TRPS-1 Immunocytochemical Panel.

Analysis of the function, mechanism and clinical application prospect of TRPS1, a new marker for breast cancer.

Trichorhinophalangeal Syndrome Orthopaedic Manifestations and Management: A Systematic Review.

TRPS1 expression in MPNST is correlated with PRC2 inactivation and loss of H3K27me3.

TRPS1 expression in breast angiosarcoma.

Deletion of Trps1 regulatory elements recapitulates postnatal hip joint abnormalities and growth retardation of Trichorhinophalangeal syndrome in mice.

TRPS1 function beyond breast: A retrospective immunohistochemical study on non-breast cytology specimens.

Xenopus tropicalis osteoblast-specific open chromatin regions reveal promoters and enhancers involved in human skeletal phenotypes and shed light on early vertebrate evolution.

How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype.

TRPS1 is a Highly Sensitive Marker for Breast Cancer: A Tissue Microarray Study Evaluating More Than 19,000 Tumors From 152 Different Tumor Entities.

Subtyping of triple-negative breast cancers: its prognostication and implications in diagnosis of breast origin.

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.

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.

Double Mesiodens in the Mixed Dentition of Non-syndromic North-Indian Patients: A Case Series.

TRPS1 expression in non-melanocytic cutaneous neoplasms: an immunohistochemical analysis of 200 cases.

TRPS1 modulates chromatin accessibility to regulate estrogen receptor alpha (ER) binding and ER target gene expression in luminal breast cancer cells.

Cis-regulatory control of mammalian Trps1 gene expression.

Trichorhinophalangeal Syndrome Type 1 Immunohistochemical Expression in Carcinomas of Gynecologic Origin.

A Comparative Evaluation of TRPS1 and GATA3 in adenoid cystic, secretory, and acinic cell carcinomas of the breast and salivary gland.

Use of Multiple Machine Learning Approaches for Selecting Urothelial Cancer-Specific DNA Methylation Biomarkers in Urine.

Trps1 predicts poor prognosis in advanced high grade serous ovarian carcinoma.

Successful topical minoxidil treatment for hair density and length in trichorhinophalangeal syndrome type 1.

TRPS1 is a promising marker for all subtypes of breast cancer.

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?

Mucinous cystadenocarcinoma of the breast harbours TRPS1 expressions and PIK3CA alterations.

Trichorhinophalangeal syndrome: A diagnosis accessible to the pediatrician at first sight.

Trichorhinophalangeal syndrome type I associated with imperforate hymen.

Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency.

TRPS1, a New Promising Marker for Assessment of Distant Metastatic Breast Cancer.

Late Presentation of Tricho-Rhino-Phalangeal Syndrome (TRPS1 Affected) Associated Hip Pathology.

Trps1 acts as a regulator of Sf-1 transcription and testosterone synthesis in mouse Leydig cells.

Trichorhinophalangeal Syndrome Type 1 Is a Highly Sensitive and Specific Marker for Diagnosing Triple-Negative Breast Carcinomas on Cytologic Samples.

TRPS1: A Marker of Follicular Differentiation.

Trichorhinophalangeal syndrome type 1 (TRPS1) expression in male breast carcinoma.

Generalized Hypertrichosis After 5% Minoxidil Solution in Trichorhinophalangeal Syndrome: A Case Report and Review of the Literatures.

Trichorhinophalangeal syndrome type 1 (Giedion syndrome): A case report with literature review.

TRPS1 outperforms GATA3 in pleural effusions with metastatic breast carcinoma versus mesothelioma.

TRPS1 expression in cytokeratin 5 expressing triple negative breast cancers, its value as a marker of breast origin.

Molecular Genetic Analysis and Growth Hormone Treatment in a Three-Generation Chinese Family with Tricho-Rhino-Phalangeal Syndrome I.

Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant.

Immunohistochemical expression of TRPS1 in mammary Paget disease, extramammary Paget disease, and their close histopathologic mimics.

Possible association of trichorhinophalangeal syndrome I and intracranial subependymoma.

Utility of TRPS1 in Malignant Effusion Cytology.

The Clinical and Molecular Spectrum of Trichorhinophalangeal Syndrome Types I and II in a Turkish Cohort Involving 22 Patients.

Case report: A novel mutation in TRPS1 identified in a Chinese family with tricho-rhino-phalangeal syndrome I: A therapeutic challenge.

The diagnostic utility of trichorhinophalangeal syndrome type 1 immunohistochemistry for metastatic breast carcinoma in effusion cytology specimens.

A novel TRPS1 mutation in a Chinese patient with trichorhinophalangeal syndrome type I.

Recombinant Human Growth Hormone Therapy for Childhood Trichorhinophalangeal Syndrome Type I: A Case Report.

Matrix Gla protein (MGP), GATA3, and TRPS1: a novel diagnostic panel to determine breast origin.

Severity Scoring Cutoff for MLPA and Its Diagnostic Yield in 332 North Indian Children with Developmental Delay.

Frequent TRPS1 expression in synovial sarcoma is associated with SS18-SSX fusion oncoprotein activity.

Characterization of a Novel Frameshift Mutation Within the TRPS1 Gene Causing Trichorhinophalangeal Syndrome Type 1 in a Kindred Cypriot Family.

Utility of TRPS-1 immunohistochemistry in diagnosis of metastatic breast carcinoma in cytology specimens.

Trichorhinophalangeal Syndrome Type 1-Positive Cells in Breast Dermal Granulation Tissues and Scars: A Potential Diagnostic Pitfall.

Functional mechanisms of TRPS1 in disease progression and its potential role in personalized medicine.

A pilot study: Comparison of TRPS1 and GATA3 immunoperoxidase staining using cytologic smears in entities reportedly positive for GATA3.

Evaluation of TRPS1 Expression in Pleural Effusion Cytology Specimens With Metastatic Breast Carcinoma.

Deficiency of Mineralization-Regulating Transcription Factor Trps1 Compromises Quality of Dental Tissues and Increases Susceptibility to Dental Caries.

A Missense Mutation in TRPS1 in a Family with Trichorhinophalangeal Syndrome Type III Accompanied by Ankylosing Spondylitis.

Paclitaxel Resistance Modulated by the Interaction between TRPS1 and AF178030.2 in Triple-Negative Breast Cancer.

Trichorhinophalangeal syndrome: a case report and brief literature review.

Minimal Critical Region and Genes for a Typical Presentation of Langer-Giedion Syndrome.

Trichorhinophalangeal syndrome type II associated with aplasia cutis congenita in a neonate.

Expression of TRPS1 in phyllodes tumor and sarcoma of the breast.

Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly.

A case of adolescent trichorhinophalangeal syndrome undergoing pelvic osteotomy for bilateral acetabular dysplasia.

Tricorhinophalangeal Syndrome type 1: a novel variant and Perthes-like hip changes as first manifestation.

Long non-coding RNA KCNQ1OT1 promotes cell viability and migration as well as inhibiting degradation of CHON-001 cells by regulating miR-126-5p/TRPS1 axis.

Genetic disorders with symptoms mimicking rheumatologic diseases: A single-center retrospective study.

Cardiac arrest in a patient with trichorhinophalangeal syndrome and dilated cardiomyopathy.

TRPS1 and YAP1 Regulate Cell Proliferation and Drug Resistance of Osteosarcoma via Competitively Binding to the Target of circTADA2A - miR-129-5p.

TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutations.

TRPS1: a highly sensitive and specific marker for breast carcinoma, especially for triple-negative breast cancer.

Urgent Airway Management and Postoperative Complications in a Patient with Trichorhinophalangeal Syndrome.

LncRNA PVT1 Regulates TRPS1 Expression in Breast Cancer by Sponging miR-543.

Novel mutation of TRPS1 in a patient with tricho-rhino-phalangeal syndrome.

Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report.

Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report.

Do microdeletions lead to immune deficiency?

TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology.

Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4.

Mixed Phenotype of Langer-Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without TRPS1 Deletion.

An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I.

[Tricho-rhino-phalangeal syndrome due to a novel frameshift variation of the TRPS1 gene].

Trichorhinophalangeal syndrome as a diagnostic and therapeutic challenge for paediatric endocrinologists.

Trps1 Regulates Development of Craniofacial Skeleton and Is Required for the Initiation of Palatal Shelves Fusion.

Severe brachydactyly and short stature resulting from a novel pathogenic TRPS1 variant within the GATA DNA-binding domain.

Atypical GATA protein TRPS1 plays indispensable roles in mouse two-cell embryo.

Trps1 transcription factor regulates mineralization of dental tissues and proliferation of tooth organ cells.

Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal Syndrome.

Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report.

Trichorhinophalangeal syndrome.

An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature.

Main genetic entities associated with supernumerary teeth.

TRPS1 shapes YAP/TEAD-dependent transcription in breast cancer cells.

Treatment of Hair Loss in the Trichorhinophalangeal Syndrome.

Case of meningothelial hamartoma with dermal melanocytosis in a patient with trichorhinophalangeal syndrome type II.

Incidental finding of an Xq microdeletion in a girl with trichorhinophalangeal syndrome type I harboring a novel TRPS1 nonsense mutation.

Surgical necrotizing enterocolitis in extremely premature neonates is associated with genetic variations in an intergenic region of chromosome 8.

High-functioning autism in a Sri Lankan youth with Langer-Giedion syndrome.

A novel base pair deletion in the TRPS1 gene in a Japanese patient with trichorhinophalangeal syndrome.

Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho-rhino-phalangeal syndrome type III.

Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.

Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient.

TRPS1 gene alterations in human subependymoma.

Multiple long bone cysts revealed by MRI in trichorhinophalangeal syndrome type II predisposing to pathological fractures.

A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report.

High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.

[Type I Trichorhinophalangeal Syndrome - Rare, but Catchy].

Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations.

Analysis of a Chinese pedigree with trichorhinophalangeal syndrome derived from a missense mutation in the TRPS1 gene.

Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.

Idiopathic erythema multiforme: Evidence of underlying Janus kinase-signal transducer and activator of transcription activation and successful treatment with tofacitinib.

Trichorhinophalangeal syndrome type II presenting with short stature in a child.

Mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR regulatory sequences with insight into their organization.

Making extra teeth: Lessons from a TRPS1 mutation.

Langer-Giedion Syndrome: a Rare Case Report.

A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family.

[Langer-Giedion syndrome with 8q23.1-q24.12 deletion diagnosed by comparative genomic hybridization].

Skeletal abnormalities of tricho-rhino-phalangeal syndrome type I.

Syndromes with supernumerary teeth.

Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.

Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion.

Should Patients with Trichorhinophalangeal Syndrome be Tested for Growth Hormone Deficiency?

Overexpression of Trps1 contributes to tumor angiogenesis and poor prognosis of human osteosarcoma.

An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.

Langer-giedion syndrome: a distinct phenotype.

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

Crooked fingers and sparse hair: an interesting case of trichorhinophalangeal syndrome type 1.