Associated Papers
Novel SETBP1 D874V adjacent to the degron causes canonical schinzel-giedion syndrome: a case report and review of the literature.
Zheng J et al.
Bmc Pediatrics, 2024
The impact of SETBP1 mutations in neurological diseases and cancer.
Kohyanagi N et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2023
Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.
Nannya Y et al.
Blood Advances, 2023
36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc2.xlsx › SuppTable2
Detection of a novel SETBP1 variant in a Chinese neonate with Schinzel-Giedion syndrome.
Yang H et al.
Frontiers in Pediatrics, 2022
Whole-genome sequencing combined RNA-sequencing analysis of patients with mutations in SET binding protein 1.
Liu L et al.
Frontiers in Neuroscience, 2022
36161179 (PubMed )
Supplement: Data_Sheet_2.xlsx › Supplementary_Table_S5
The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.
Leone MP et al.
Italian Journal of Pediatrics, 2020
Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria.
Liu WL et al.
Journal of Genetics, 2018
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
Acuna-Hidalgo R et al.
Plos Genetics, 2017
28346496 (PubMed )
Supplement: pgen.1006683.s003.pdf
Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation.
Takeuchi A et al.
European Journal of Medical Genetics, 2015
[Schinzel-Giedion syndrome: a new mutation in SETBP1].
López-González V et al.
Anales De Pediatria (barcelona, Spain : 2003), 2015
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