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Items: 1 to 20 of 599

1.
Scoliosis in a Case of Schinzel–Giedion Syndrome
Amit K. Sharma, Joseph A. Gonzales
HSS J. 2009 Sep; 5(2): 120–122. Published online 2009 Jun 17. doi: 10.1007/s11420-009-9111-1
PMCID:
PMC2744749
AbstractArticlePDF–109K
2.
Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features
Ozgul Bulut, Zeynep Ince, Umut Altunoglu, Sukran Yildirim, Asuman Coban
Case Rep Genet. 2017; 2017: 3740524. Published online 2017 Dec 3. doi: 10.1155/2017/3740524
PMCID:
PMC5733194
AbstractArticlePDF–1015K
3.
SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome
Federica Banfi, Alicia Rubio, Mattia Zaghi, Luca Massimino, Giulia Fagnocchi, Edoardo Bellini, Mirko Luoni, Cinzia Cancellieri, Anna Bagliani, Chiara Di Resta, Camilla Maffezzini, Angelo Ianielli, Maurizio Ferrari, Rocco Piazza, Luca Mologni, Vania Broccoli, Alessandro Sessa
Nat Commun. 2021; 12: 4050. Published online 2021 Jun 30. doi: 10.1038/s41467-021-24391-3
PMCID:
PMC8245514
AbstractArticlePDF–6.5M
4.
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
Maria Pia Leone, Pietro Palumbo, Orazio Palumbo, Ester Di Muro, Massimiliano Chetta, Nicola Laforgia, Nicoletta Resta, Alessandro Stella, Stefano Castellana, Tommaso Mazza, Marco Castori, Massimo Carella, Nenad Bukvic
Ital J Pediatr. 2020; 46: 74. Published online 2020 May 27. doi: 10.1186/s13052-020-00839-y
PMCID:
PMC7254667
AbstractArticlePDF–1.0M
5.
Cell‐type‐specific gene expression and regulation in the cerebral cortex and kidney of atypical Setbp1S858R Schinzel Giedion Syndrome mice
Jordan H. Whitlock, Tabea M. Soelter, Timothy C. Howton, Elizabeth J. Wilk, Vishal H. Oza, Brittany N. Lasseigne
J Cell Mol Med. 2023 Nov; 27(22): 3565–3577. Published online 2023 Oct 23. doi: 10.1111/jcmm.18001
PMCID:
PMC10660642
AbstractArticlePDF–4.7M
6.
Detection of a novel SETBP1 variant in a Chinese neonate with Schinzel–Giedion syndrome
Hansong Yang, Zhiyong Liu, Dongmei Chen, Weiru Lin, Lin Wang, Tianfeng Chen, Ruiquan Wang, Xialin Yan
Front Pediatr. 2022; 10: 920741. Published online 2022 Sep 6. doi: 10.3389/fped.2022.920741
PMCID:
PMC9488805
AbstractArticlePDF–1.3M
7.
Genetic and prenatal findings in two Japanese patients with Schinzel–Giedion syndrome
Nozomi Hishimura, Michiko Watari, Hiroki Ohata, Naho Fuseya, Sadae Wakiguchi, Tomoharu Tokutomi, Kouji Okuhara, Nobuhiro Takahashi, Susumu Iizuka, Hiroshi Yamamoto, Takashi Mishima, Satoko Fujieda, Ryoji Kobayashi, Kazutoshi Cho, Yukiko Kuroda, Kenji Kurosawa, Hidefumi Tonoki
Clin Case Rep. 2017 Jan; 5(1): 5–8. Published online 2016 Nov 17. doi: 10.1002/ccr3.738
PMCID:
PMC5224771
AbstractArticlePDF–1023K
8.
Neurosonography and pathology in the Schinzel-Giedion syndrome.
A C Maclennan, D Doyle, R M Simpson
J Med Genet. 1991 Aug; 28(8): 547–549. doi: 10.1136/jmg.28.8.547
PMCID:
PMC1016987
SummaryPage BrowsePDF–514K
9.
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A. Graham, Sipko van Dam, Julie Hoover-Fong, Aida B. Telegrafi, Anne Destree, Robert Smigiel, Lindsday A. Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G. Nur, Ercan Mihci, Lilia M. A. Moreira, Viviane Borges Ferreira, Dafne D. G. Horovitz, Katia M. da Rocha, Aleksandra Jezela-Stanek, Alice S. Brooks, Heiko Reutter, Julie S. Cohen, Ali Fatemi, Martin Smitka, Theresa A. Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A. Veltman, Bert B. A. De Vries, Albert Schinzel, Simon E. Fisher, Alexander Hoischen, Bregje W. van Bon
PLoS Genet. 2017 Mar; 13(3): e1006683. Published online 2017 Mar 27. doi: 10.1371/journal.pgen.1006683
PMCID:
PMC5386295
AbstractArticlePDF–2.2M
10.
G protein hyperactivation of the Caenorhabditis elegans adenylyl cyclase SGS-1 induces neuronal degeneration.
H C Korswagen, A M van der Linden, R H Plasterk
EMBO J. 1998 Sep 1; 17(17): 5059–5065. doi: 10.1093/emboj/17.17.5059
PMCID:
PMC1170833
SummaryPDF–427K
11.
Novel SETBP1 D874V adjacent to the degron causes canonical schinzel–giedion syndrome: a case report and review of the literature
Jing Zheng, Meiqun Gu, Shasha Xiao, Chongzhen Li, Hongying Mi, Xiaoyan Xu
BMC Pediatr. 2024; 24: 309. Published online 2024 May 6. doi: 10.1186/s12887-024-04779-y
PMCID:
PMC11071329
AbstractArticlePDF–1.6M
12.
The fork head product directly specifies the tissue-specific hormone responsiveness of the Drosophila Sgs-4 gene.
M Lehmann, G Korge
EMBO J. 1996 Sep 16; 15(18): 4825–4834.
PMCID:
PMC452219
SummaryPage BrowsePDF–2.6M
13.
Functional redundancy in the tissue-specific enhancer of the Drosophila Sgs-4 gene.
T A Jongens, T Fowler, A W Shermoen, S K Beckendorf
EMBO J. 1988 Aug; 7(8): 2559–2567. doi: 10.1002/j.1460-2075.1988.tb03105.x
PMCID:
PMC457128
SummaryPage BrowsePDF–2.1M
14.
Developmental regulation by an enhancer from the Sgs-4 gene of Drosophila
Antony W. Shermoen, Jill Jongens, Susan W. Barnett, Kathleen Flynn, Steven K. Beckendorf
EMBO J. 1987 Jan; 6(1): 207–214. doi: 10.1002/j.1460-2075.1987.tb04740.x
PMCID:
PMC553378
SummaryPage BrowsePDF–1.6M
15.
SGS: a structured treatment and teaching programme for older patients with diabetes mellitus—a prospective randomised controlled multi-centre trial
Anke K. Braun, Thomas Kubiak, Jörn Kuntsche, Martina Meier-Höfig, Ulrich A. Müller, Irene Feucht, Andrej Zeyfang
Age Ageing. 2009 Jul; 38(4): 390–396. Published online 2009 May 18. doi: 10.1093/ageing/afp056
PMCID:
PMC2699189
AbstractArticlePDF–137K
16.
Comment on “The diagnostic value of D-dimer with simplified Geneva score (SGS) pre-test in the diagnosis of pulmonary embolism (PE)”
Siamak Sabour
J Cardiothorac Surg. 2020; 15: 246. Published online 2020 Sep 10. doi: 10.1186/s13019-020-01301-0
PMCID:
PMC7488250
AbstractArticlePDF–443K
17.
Cis-acting sequences which regulate expression of the Sgs-4 glue protein gene of Drosophila.
S L McNabb, S K Beckendorf
EMBO J. 1986 Sep; 5(9): 2331–2340. doi: 10.1002/j.1460-2075.1986.tb04501.x
PMCID:
PMC1167117
SummaryPage BrowsePDF–2.7M
18.
Sequences sufficient for correct regulation of Sgs-3 lie close to or within the gene.
K V Raghavan, M A Crosby, P H Mathers, E M Meyerowitz
EMBO J. 1986 Dec 1; 5(12): 3321–3326. doi: 10.1002/j.1460-2075.1986.tb04646.x
PMCID:
PMC1167329
SummaryPage BrowsePDF–1.5M
19.
Induction and repression of the Drosophila Sgs-3 glue gene are mediated by distinct sequences in the proximal promoter.
M Martin, A Giangrande, C Ruiz, G Richards
EMBO J. 1989 Feb; 8(2): 561–568. doi: 10.1002/j.1460-2075.1989.tb03410.x
PMCID:
PMC400842
SummaryPage BrowsePDF–1.8M
20.
Multisite study of Titan SGS stapler in longitudinal gastric resection
Christen E. Salyer, Jonathan Thompson, Aaron Hoffman, Matthew D. Burstein, Paul Enochs, Brad M. Watkins, Joshua Kuethe, Michael D. Goodman
Surg Endosc. 2022; 36(8): 6285–6292. Published online 2022 Jan 26. doi: 10.1007/s00464-022-09051-x
PMCID:
PMC8791084
AbstractArticlePDF–606K

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