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Last Updated: 10/31/2025
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Found 266 publications
Trichorhinophalangeal syndrome type 1 (TRPS1) in breast pathology: diagnostic utility and pitfalls.
Journal: Diagnostic pathology
Published: January 06, 2025
Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in BCOR gene.
Journal: Cardiology in the young
Published: October 11, 2024
Tricho-rhino-phalangeal syndrome with TRPS1 gene variation in 3 children
Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: September 27, 2024
Deletion of Trps1 regulatory elements recapitulates postnatal hip joint abnormalities and growth retardation of Trichorhinophalangeal syndrome in mice.
Journal: Human molecular genetics
Published: February 27, 2024
Trichorhinophalangeal Syndrome Orthopaedic Manifestations and Management: A Systematic Review.
Journal: Journal of the American Academy of Orthopaedic Surgeons. Global research & reviews
Published: January 05, 2024
Use of Multiple Machine Learning Approaches for Selecting Urothelial Cancer-Specific DNA Methylation Biomarkers in Urine.
Journal: International journal of molecular sciences
Published: October 13, 2023
A Comparative Evaluation of TRPS1 and GATA3 in adenoid cystic, secretory, and acinic cell carcinomas of the breast and salivary gland.
Journal: Human pathology
Published: October 09, 2023
Successful topical minoxidil treatment for hair density and length in trichorhinophalangeal syndrome type 1.
Journal: Pediatric dermatology
Published: October 01, 2023
TRPS1 modulates chromatin accessibility to regulate estrogen receptor alpha (ER) binding and ER target gene expression in luminal breast cancer cells.
Journal: PLoS genetics
Published: September 21, 2023
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.
Journal: European journal of medical genetics
Published: September 15, 2023
World-Renowned "Swiss" Pediatricians, Their Syndromes, and Matching Imaging Findings: A Historical Perspective.
Journal: Children (Basel, Switzerland)
Published: September 05, 2023
How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype.
Journal: European journal of medical genetics
Published: August 05, 2023
Last Updated: 10/31/2025