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Last Updated: 10/31/2025
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Found 34 publications
Overlapping Aicardi-Goutières and Singleton-Merten syndromes with a heterozygous gain-of-function mutation in IFIH1 mimicking juvenile idiopathic arthritis.
Journal: Immunological medicine
Published: March 21, 2025
Generation of iPSCs line from patient with Singleton-Merten syndrome.
Journal: Human cell
Published: January 21, 2025
Tofacitinib treatment for psoriatic skin lesions associated with Aicardi-Goutières syndrome 7/Singleton-Merten syndrome 1.
Journal: Orphanet journal of rare diseases
Published: November 04, 2024
Glaucoma in a patient with Singleton-Merten syndrome.
Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
Published: June 18, 2023
Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report.
Journal: Pediatric rheumatology online journal
Published: January 31, 2022
Computational Insights into the Structural Dynamics of MDA5 Variants Associated with Aicardi-Goutières Syndrome and Singleton-Merten Syndrome.
Journal: Biomolecules
Published: July 14, 2021
A novel pathogenic variant p.Asp797Val in IFIH1 in a Japanese boy with overlapping Singleton-Merten syndrome and Aicardi-Goutières syndrome.
Journal: American journal of medical genetics. Part A
Published: June 19, 2021
Singleton-Merten syndrome: A rare cause of femoral head necrosis.
Journal: American journal of medical genetics. Part A
Published: March 11, 2021
Hereditary Disorders of Cardiovascular Calcification.
Journal: Arteriosclerosis, thrombosis, and vascular biology
Published: November 12, 2020
RNA Editing in Interferonopathies.
Journal: Methods in molecular biology (Clifton, N.J.)
Published: July 31, 2020
Psoriasis-like skin disorder in transgenic mice expressing a RIG-I Singleton-Merten syndrome variant.
Journal: International immunology
Published: June 19, 2020
Last Updated: 10/31/2025