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Last Updated: 10/31/2025
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Found 89 publications
The spectrum of communication abilities in children with 12 rare neurodevelopmental disorders: a qualitative study with caregivers.
Journal: Journal of child psychology and psychiatry, and allied disciplines
Published: August 13, 2025
Schinzel-Giedion syndrome: communication, feeding and motor skills in 16 individuals.
Journal: Neurogenetics
Published: January 30, 2025
Case Report: Prolonged survival in Schinzel-Giedion syndrome featuring megaureter and de novo SETBP1 mutation.
Journal: Frontiers in pediatrics
Published: November 25, 2024
International Expert Opinion on Standard of Care for Patients With Schinzel-Giedion Syndrome: A Modified Delphi Study.
Journal: American journal of medical genetics. Part A
Published: November 11, 2024
Update on Cancer Screening in Children with Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare Syndromes.
Journal: Clinical cancer research : an official journal of the American Association for Cancer Research
Published: August 17, 2024
Reciprocal and non-reciprocal effects of clinically relevant SETBP1 protein dosage changes.
Journal: Human molecular genetics
Published: April 23, 2024
Novel SETBP1 D874V adjacent to the degron causes canonical schinzel-giedion syndrome: a case report and review of the literature.
Journal: BMC pediatrics
Published: November 01, 2023
The landscape of SETBP1 gene expression and transcription factor activity across human tissues.
Journal: PloS one
Published: October 26, 2023
The landscape of SETBP1 gene expression and transcription factor activity across human tissues.
Journal: bioRxiv : the preprint server for biology
Published: October 24, 2023
World-Renowned "Swiss" Pediatricians, Their Syndromes, and Matching Imaging Findings: A Historical Perspective.
Journal: Children (Basel, Switzerland)
Published: September 05, 2023
Cell-type-specific gene expression and regulation in the cerebral cortex and kidney of atypical Setbp1S858R Schinzel Giedion Syndrome mice.
Journal: Journal of cellular and molecular medicine
Published: August 01, 2023
The impact of SETBP1 mutations in neurological diseases and cancer.
Journal: Genes to cells : devoted to molecular & cellular mechanisms
Published: May 30, 2023
Last Updated: 10/31/2025