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Double-valve surgery in Shprintzen-Goldberg syndrome.
Elmistekawy E, Hudson CC, Williams A, Mesana T. Elmistekawy E, et al. Asian Cardiovasc Thorac Ann. 2014 Sep;22(7):842-5. doi: 10.1177/0218492313485070. Epub 2013 Oct 9. Asian Cardiovasc Thorac Ann. 2014. PMID: 24887819
The patient underwent a successful mitral valve replacement and tricuspid valve repair through a right thoracotomy. Apart from atrial fibrillation, he had a smooth hospital course and was discharged home on postoperative day 9....
The patient underwent a successful mitral valve replacement and tricuspid valve repair through a right thoracotomy. Apart from atrial fibril …
Overall intelligibility, language, articulation, voice and resonance characteristics in a child with Shprintzen-Goldberg syndrome.
Van Lierde KM, Mortier G, Loeys B, Baudonck N, De Ley S, Marks LA, Van Borsel J. Van Lierde KM, et al. Int J Pediatr Otorhinolaryngol. 2007 May;71(5):721-8. doi: 10.1016/j.ijporl.2007.01.009. Epub 2007 Feb 14. Int J Pediatr Otorhinolaryngol. 2007. PMID: 17303258
OBJECTIVE: Recognition of the phenotypic spectrum and prognosis of a genetic disorder is critical to proper patient care. ...
OBJECTIVE: Recognition of the phenotypic spectrum and prognosis of a genetic disorder is critical to proper patient care. ...
Thoraco-abdominal aortic aneurysm rupture in a patient with Shprintzen-Goldberg syndrome.
Kimura N, Inaba Y, Kameyama K, Shimizu H. Kimura N, et al. Interact Cardiovasc Thorac Surg. 2018 Jun 1;26(6):1039-1040. doi: 10.1093/icvts/ivy003. Interact Cardiovasc Thorac Surg. 2018. PMID: 29346558
The aneurysm grew rapidly necessitating emergent thoraco-abdominal aortic replacement. The postoperative course was uneventful, and a careful lifetime follow-up was planned....
The aneurysm grew rapidly necessitating emergent thoraco-abdominal aortic replacement. The postoperative course was uneventful, and a …
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.
Arnaud P, Racine C, Hanna N, Thevenon J, Alessandri JL, Bonneau D, Clayton-Smith J, Coubes C, Delobel B, Dupuis-Girod S, Gouya L, Odent S, Carmignac V, Thauvin-Robinet C, Le Goff C, Jondeau G, Boileau C, Faivre L. Arnaud P, et al. Hum Genet. 2020 Apr;139(4):461-472. doi: 10.1007/s00439-019-02102-9. Epub 2020 Jan 24. Hum Genet. 2020. PMID: 31980905 Clinical Trial.
So far, the clinical description, including intellectual disability, has been relatively homogeneous, and the known pathogenic variations were located in two different hotspots of the SKI gene. In the course of diagnosing Marfan syndrome and related disorders, we identifie …
So far, the clinical description, including intellectual disability, has been relatively homogeneous, and the known pathogenic variations we …
Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.
Poninska JK, Bilinska ZT, Franaszczyk M, Michalak E, Rydzanicz M, Szpakowski E, Pollak A, Milanowska B, Truszkowska G, Chmielewski P, Sioma A, Janaszek-Sitkowska H, Klisiewicz A, Michalowska I, Makowiecka-Ciesla M, Kolsut P, Stawinski P, Foss-Nieradko B, Szperl M, Grzybowski J, Hoffman P, Januszewicz A, Kusmierczyk M, Ploski R. Poninska JK, et al. J Transl Med. 2016 May 4;14(1):115. doi: 10.1186/s12967-016-0870-4. J Transl Med. 2016. PMID: 27146836 Free PMC article.
CONCLUSIONS: This study broadens the spectrum of genetic background of thoracic aneurysms and dissections and supports its potential role as a prognostic factor in the patients with the disease....
CONCLUSIONS: This study broadens the spectrum of genetic background of thoracic aneurysms and dissections and supports its potential role as …
Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle.
Fusco C, Nardella G, Morlino S, Micale L, Tragni V, Agolini E, Novelli A, Massuras S, Giambra V, Pierri CL, Castori M. Fusco C, et al. J Hum Genet. 2024 Jan;69(1):53-58. doi: 10.1038/s10038-023-01193-7. Epub 2023 Sep 12. J Hum Genet. 2024. PMID: 37697026
[Thr180Met] SKI variants were studied combining in silico and in vitro approach. 3D comparative modeling and calculation of the interaction energy predicted that both variants alter the SKI tertiary protein structure and its interactions. ...
[Thr180Met] SKI variants were studied combining in silico and in vitro approach. 3D comparative modeling and calculation of the interaction …