Disease: Trichorhinophalangeal syndrome type 2
- A case report of tricho-rhino-phalangeal syndrome
- A Comparative Evaluation of TRPS1 and GATA3 in adenoid cystic, secretory, and acinic cell carcinomas of the breast and salivary gland
- A novel base pair deletion in the TRPS1 gene in a Japanese patient with trichorhinophalangeal syndrome
- A novel de novo nonsense mutation in the TRPS1 gene in a Japanese patient with tricho-rhino-phalangeal syndrome type I
- 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 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
- 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
- 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
- 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
- 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
- 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
- Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review
- Cone-shaped epiphysis
- Cornelia de Lange syndrome caused by heterozygous deletions of chromosome 8q24: comments on the article by Pereza et al. [2012]
- Crooked fingers and sparse hair: an interesting case of trichorhinophalangeal syndrome type 1
- 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
- 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
- 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 a new mutation in TRPS1 gene leading to tricho-rhino-phalangeal syndrome I in a Chinese patient
- Identification of two novel mutations in TRPS1 gene in families with tricho-rhino-phalangeal type I syndrome
- Impaired GH secretion in patients with SHOX deficiency and efficacy of recombinant human GH therapy
- Incidental finding of an Xq microdeletion in a girl with trichorhinophalangeal syndrome type I harboring a novel TRPS1 nonsense mutation
- Langer-Giedion syndrome associated with congenital dural arterio-venous fistula
- Langer-Giedion syndrome with 8q23.1-q24.12 deletion diagnosed by comparative genomic hybridization
- Langer-giedion syndrome: a distinct phenotype
- Langer-Giedion Syndrome: a Rare Case Report
- Langer-Giedion syndrome: the evolving imaging features in hands and beyond
- Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4
- Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications
- Making extra teeth: Lessons from a TRPS1 mutation
- 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
- 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
- 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
- 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 Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly
- 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
- Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome
- 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 of Langer-Giedion Syndrome confirmed by BACs-on-Beads technique
- Should Patients with Trichorhinophalangeal Syndrome be Tested for Growth Hormone Deficiency?
- Skeletal abnormalities of tricho-rhino-phalangeal syndrome type I
- Slow growth of hair and nails, craniofacial abnormalities and brachyphalangy
- Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling
- 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 effect of growth hormone treatment in a child with tricho-rhino-phalangeal syndrome: A case report and review of the literature
- The use of cone beam computed tomography for the assessment of trichorhinophalangeal syndrome, type I - a case report
- Thricho-rhino-phalangeal syndrome and severe osteoporosis: a rare association or a feature? An effective therapeutic approach with biphosphonates
- Traumatic bone cyst of the mandible in Langer-Giedion syndrome: a case report
- Tricho-rhino-phalangeal syndrome due to a novel frameshift variation of the TRPS1 gene
- Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation
- 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 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 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 presenting with short stature in a child
- Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells
- 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 deficiency inhibits the morphogenesis of secondary hair follicles via decreased Noggin expression
- TRPS1 Haploinsufficiency Results in Increased STAT3 and SOX9 mRNA Expression in Hair Follicles in Trichorhinophalangeal Syndrome
- 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
- Unanticipated subglottic stenosis complicating airway management of a child with Langer-Giedion syndrome
- 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