Disease: Trichorhinophalangeal syndrome type 3
- A de nevo complex t(7;13;8) translocation with a deletion in the TRPS gene region
- 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 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 missense mutation in the TRPS1 gene in a case of trichorhinophalangeal syndrome type I (TRPS1) with fish-like malodour
- 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 Chinese patient with trichorhinophalangeal syndrome type I
- A novel TRPS1 mutation in a family with tricho-rhino-phalangeal syndrome type 1
- Abnormal modelling of the humeral head in the tricho-rhino-phalangeal syndrome: a new radiological observation
- An integrated physical map of 8q22-q24: use in positional cloning and deletion analysis of Langer-Giedion syndrome
- An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy
- 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
- Analysis of metacarpophalangeal pattern profiles
- Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes
- Anesthetic management of a child with Langer-Giedion (TRPS II) syndrome
- Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion
- Another family with tricho-rhino-phalangeal syndrome type III (Sugio-Kajii syndrome)
- Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13)
- Clinical and scanning electron microscopic findings in a solitary case of Trichorhinophalangeal syndrome type I
- 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
- 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
- Evaluation of TRPS1 Expression in Pleural Effusion Cytology Specimens With Metastatic Breast Carcinoma
- Facial and oral findings in trichorhinophalangeal syndrome type 1 (characteristics of TRPS 1)
- Familial tricho-rhino-phalangeal syndrome Type II
- Hand and foot deformities in a type I trichorhinophalangeal syndrome. Studies in 3 members of a family
- 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 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
- Intellectual competence in a girl with Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II)
- Langer-Giedion syndrome with 8q23.1-q24.12 deletion diagnosed by comparative genomic hybridization
- Langer-Giedion syndrome with interstitial 8q-deletion
- Langer-Giedion Syndrome: a Rare Case Report
- Main genetic entities associated with supernumerary teeth
- Matrix Gla protein (MGP), GATA3, and TRPS1: a novel diagnostic panel to determine breast origin
- Microdissection of human chromosomal regions 8q23.3-q24.11 and 2q33-qter: construction of DNA libraries and isolation of their clones
- Minimal Critical Region and Genes for a Typical Presentation of Langer-Giedion Syndrome
- miR-221/222 targeting of trichorhinophalangeal 1 (TRPS1) promotes epithelial-to-mesenchymal transition in breast cancer
- 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
- Mucinous cystadenocarcinoma of the breast harbours TRPS1 expressions and PIK3CA alterations
- Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I
- 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
- Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I
- Novel mutation of TRPS1 in a patient with tricho-rhino-phalangeal syndrome
- Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly
- 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
- Report of three cases with tricho-rhino-phalangeal syndrome type I (two cases) and type II (one case)
- Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho-rhino-phalangeal syndrome type III
- Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion
- Severity Scoring Cutoff for MLPA and Its Diagnostic Yield in 332 North Indian Children with Developmental Delay
- Subtyping of triple-negative breast cancers: its prognostication and implications in diagnosis of breast origin
- The diagnostic utility of trichorhinophalangeal syndrome type 1 immunohistochemistry for metastatic breast carcinoma in effusion cytology specimens
- The EIF3S3 gene encoding the p40 subunit of the translation initiation factor eIF3 has eight exons and maps to the Langer-Giedion syndrome chromosome region on 8q24, but is not the TRPS1 gene
- The Role of Tricho-Rhino-Phalangeal Syndrome (TRPS) 1 in Apoptosis during Embryonic Development and Tumor Progression
- The tricho-rhino-phalangeal syndrome revisited
- Thricho-rhino-phalangeal syndrome and severe osteoporosis: a rare association or a feature? An effective therapeutic approach with biphosphonates
- Tricho-rhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13
- Tricho-rhino-phalangeal syndrome type II associated with epiglottic aplasia and congenital nephrotic syndrome
- Tricho-rhino-phalangeal syndrome type III
- Trichorhinophalangeal Syndrome
- Trichorhinophalangeal syndrome
- 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: A case report with literature review
- Trichorhinophalangeal syndrome type I in monozygotic twins discordant for hip pathology. Report on the morphological evolution of cone-shaped epiphyses and the unusual pattern of skeletal maturation
- 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 I: clinical and molecular characterization of 3 members of a family and 1 sporadic case
- Trichorhinophalangeal syndrome type II associated with aplasia cutis congenita in a neonate
- Trichorhinophalangeal syndrome type II due to a novel 8q23.3-q24.12 deletion associated with imperforate hymen and vaginal stenosis
- Trichorhinophalangeal syndrome type II without the chromosome 8 deletion that resembled metachondromatosis
- Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells
- Trichorhinophalangeal syndrome--clinical presentation and genetics
- Trichorhinophalangeal syndrome, type I, with avascular necrosis of the femoral head
- Tricorhinophalangeal Syndrome type 1: a novel variant and Perthes-like hip changes as first manifestation
- 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 is a Highly Sensitive Marker for Breast Cancer: A Tissue Microarray Study Evaluating More Than 19,000 Tumors From 152 Different Tumor Entities
- TRPS1 outperforms GATA3 in pleural effusions with metastatic breast carcinoma versus mesothelioma
- Trps1 plays a pivotal role downstream of Gdf5 signaling in promoting chondrogenesis and apoptosis of ATDC5 cells
- Trps1 Regulates Development of Craniofacial Skeleton and Is Required for the Initiation of Palatal Shelves Fusion
- TRPS1 targeting by miR-221/222 promotes the epithelial-to-mesenchymal transition in 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
- Utility of TRPS-1 immunohistochemistry in diagnosis of metastatic breast carcinoma in cytology specimens
- Utility of TRPS1 in Malignant Effusion Cytology