• <em>SETBP1</em> dysregulation in congenital disorders and myeloid neoplasms
• A Comparative Evaluation of TRPS1 and GATA3 in adenoid cystic, secretory, and acinic cell carcinomas of the breast and salivary gland
• A Novel <em>SETBP1</em> Gene Disruption by a De Novo Balanced Translocation in a Patient with Speech Impairment, Intellectual, and Behavioral Disorder
• A novel base pair deletion in the TRPS1 gene in a Japanese patient with trichorhinophalangeal syndrome
• 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 TRPS1 mutation in a Chinese patient with trichorhinophalangeal syndrome type I
• A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report
• A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome
• 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 intragenic duplication of <em>TRPS1</em> leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I
• An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I
• BACs-on-Beads Assay for the Prenatal Diagnosis of Microdeletion and Microduplication Syndromes
• Balanced SET levels favor the correct enhancer repertoire during cell fate acquisition
• Cardiac arrest in a patient with trichorhinophalangeal syndrome and dilated cardiomyopathy
• Case of meningothelial hamartoma with dermal melanocytosis in a patient with trichorhinophalangeal syndrome type II
• Cell-type-specific gene expression and regulation in the cerebral cortex and kidney of atypical Setbp1(S858R) Schinzel Giedion Syndrome mice
• Cell-type-specific gene expression and regulation in the cerebral cortex and kidney of atypical Setbp1^S858R Schinzel Giedion Syndrome mice
• Characterization of a Novel Frameshift Mutation Within the TRPS1 Gene Causing Trichorhinophalangeal Syndrome Type 1 in a Kindred Cypriot Family
• Cis-regulatory control of mammalian Trps1 gene expression
• 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
• Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient
• Delayed Bone Age in a Child with a Novel Loss-of-Function Variant in <em>SETBP1</em> Gene Sheds Light on the Potential Role of SETBP1 Protein in Skeletal Development
• Detection of a novel <em>SETBP1</em> variant in a Chinese neonate with Schinzel-Giedion syndrome
• Detection of a novel SETBP1 variant in a Chinese neonate with Schinzel-Giedion syndrome
• Double Mesiodens in the Mixed Dentition of Non-syndromic North-Indian Patients: A Case Series
• Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report
• 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
• Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant
• Expression of TRPS1 in phyllodes tumor and sarcoma of the breast
• Fate mapping of Trps1 daughter cells during cardiac development using novel Trps1-Cre mice
• Frequent TRPS1 expression in synovial sarcoma is associated with SS18-SSX fusion oncoprotein activity
• Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome
• High-functioning autism in a Sri Lankan youth with Langer-Giedion syndrome
• How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype
• Identification of <em>SETBP1</em> Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With "Developmental and Epileptic Encephalopathy"
• Improved clinical utility of preimplantation genetic testing through the integration of ploidy and common pathogenic microdeletions analyses
• Incidental finding of an Xq microdeletion in a girl with trichorhinophalangeal syndrome type I harboring a novel TRPS1 nonsense mutation
• Langer-Giedion syndrome with 8q23.1-q24.12 deletion diagnosed by comparative genomic hybridization
• Langer-Giedion Syndrome: a Rare Case Report
• Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4
• Main genetic entities associated with supernumerary teeth
• Making extra teeth: Lessons from a TRPS1 mutation
• Matrix Gla protein (MGP), GATA3, and TRPS1: a novel diagnostic panel to determine breast origin
• Mediator complex proximal Tail subunit MED30 is critical for Mediator core stability and cardiomyocyte transcriptional network
• Minimal Critical Region and Genes for a Typical Presentation of Langer-Giedion Syndrome
• Mixed Phenotype of Langer-Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without <em>TRPS1</em> Deletion
• Molecular Genetic Analysis and Growth Hormone Treatment in a Three-Generation Chinese Family with Tricho-Rhino-Phalangeal Syndrome I
• Multiple long bone cysts revealed by MRI in trichorhinophalangeal syndrome type II predisposing to pathological fractures
• Mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR regulatory sequences with insight into their organization
• Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report
• Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly
• Novel SETBP1 D874V adjacent to the degron causes canonical schinzel-giedion syndrome: a case report and review of the literature
• Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency
• Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
• Possible association of trichorhinophalangeal syndrome I and intracranial subependymoma
• Prenatal diagnosis and array comparative genomic hybridization characterization of interstitial deletions of 8q23.3-q24.11 and 8q24.13 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and haploinsufficiency of TRPS1, RAD21 and EXT1
• Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1
• Putative Roles of SETBP1 Dosage on the SET Oncogene to Affect Brain Development
• Recombinant Human Growth Hormone Therapy for Childhood Trichorhinophalangeal Syndrome Type I: A Case Report
• Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk
• Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features
• Schinzel-Giedion syndrome: a case with sacrococcygeal teratoma and cor-triatriatum dexter
• Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria
• SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome
• SETBP1 induces transcription of a network of development genes by acting as an epigenetic hub
• 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 SETBP1 mutations in myeloid neoplasms
• 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
• Syndromes with supernumerary teeth
• The effect of growth hormone treatment in a child with tricho-rhino-phalangeal syndrome: A case report and review of the literature
• The impact of SETBP1 mutations in neurological diseases and cancer
• The landscape of <em>SETBP1</em> gene expression and transcription factor activity across human tissues
• The landscape of SETBP1 gene expression and transcription factor activity across human tissues
• The recurrent SETBP1 c.2608G &gt; A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate
• The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate
• Tricho-rhino-phalangeal syndrome due to a novel frameshift variation of the TRPS1 gene
• 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-Positive Cells in Breast Dermal Granulation Tissues and Scars: A Potential Diagnostic Pitfall
• Trichorhinophalangeal syndrome type I associated with imperforate hymen
• Trichorhinophalangeal syndrome type II associated with aplasia cutis congenita in a neonate
• Trichorhinophalangeal syndrome type II presenting with short stature in a child
• Trichorhinophalangeal syndrome: a case report and brief literature review
• Tricorhinophalangeal Syndrome type 1: a novel variant and Perthes-like hip changes as first manifestation
• TRPS1 modulates chromatin accessibility to regulate estrogen receptor alpha (ER) binding and ER target gene expression in luminal breast cancer cells
• TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutations
• Trps1 transcription factor regulates mineralization of dental tissues and proliferation of tooth organ cells
• Trps1 transcription factor represses phosphate-induced expression of SerpinB2 in osteogenic cells
• Type I Trichorhinophalangeal Syndrome - Rare, but Catchy
• Unusual facies with delayed development and multiple malformations in a 14-month-old boy
• Use of Multiple Machine Learning Approaches for Selecting Urothelial Cancer-Specific DNA Methylation Biomarkers in Urine
• World-Renowned "Swiss" Pediatricians, Their Syndromes, and Matching Imaging Findings: A Historical Perspective
• Xenopus tropicalis osteoblast-specific open chromatin regions reveal promoters and enhancers involved in human skeletal phenotypes and shed light on early vertebrate evolution