Associated Papers
Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.
Bouhatous YM et al.
Journal of Medical Genetics, 2025
40562530 (PubMed )
Supplement: jmg-62-9-s001.xlsx › Feuil1
Exploring the Cognitive and Behavioral Aspects of Shprintzen-Goldberg Syndrome; a Novel Cohort and Literature Review.
Sjøstrøm E et al.
Clinical Genetics, 2025
Shprintzen - Goldberg syndrome without intellectual disability: A clinical report and review of literature.
Chatelain C et al.
European Journal of Medical Genetics, 2025
[Analysis of phenotype and genetic variant in a family with Shprintzen-Goldberg syndrome].
Shi J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes
Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization.
Gori I et al.
Elife, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.
Arnaud P et al.
Human Genetics, 2020
Eye Manifestations of Shprintzen-Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review.
Choi JH et al.
Case Reports in Genetics, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
A de novo mutation in DHD domain of SKI causing spina bifida with no craniofacial malformation or intellectual disability.
Zhang L et al.
American Journal of Medical Genetics. Part A, 2019
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
Schepers D et al.
European Journal of Human Genetics : Ejhg, 2015
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
Carmignac V et al.
American Journal of Human Genetics, 2012
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.
Doyle AJ et al.
Nature Genetics, 2012
Select a paper to view details