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Select item 106606421.

Cell‐type‐specific gene expression and regulation in the cerebral cortex and kidney of atypical Setbp1^S858R 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

Abstract Article PDF–4.7M

Select item 94888052.

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

Abstract Article PDF–1.3M

Select item 82455143.

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

Abstract Article PDF–6.5M

Select item 72546674.

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

Abstract Article PDF–1.0M

Select item 57331945.

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

Abstract Article PDF–1015K

Select item 53862956.

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

Abstract Article PDF–2.2M

Select item 52247717.

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

Abstract Article PDF–1023K

Select item 27447498.

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

Abstract Article PDF–109K

Select item 10169879.

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

Summary Page Browse PDF–514K

Select item 1037985810.

The Potential of Soluble Gas Stabilization (SGS) Technology in a Simulated Post-Frying Cooling Step of Commercial Fish Cakes

Bjørn Tore Rotabakk, Elena Marie Rognstad, Anita Nordeng Jakobsen, Jørgen Lerfall

Foods. 2023 Jul; 12(14): 2788. Published online 2023 Jul 22. doi: 10.3390/foods12142788

PMCID:: PMC10379858

Abstract Article PDF–993K

Select item 953504111.

Treatment of Childhood High-Grade Subglottic Stenosis (SGS) Through Laryngotracheoplasty (LTP) in a Tertiary Pediatric Center from 2013 to 2020

Talal Al-Khatib, Anas Kurdi, Wafa Abdullah Maqbul, Abdulrahman Maqboul, Talal Alghamdi

Indian J Otolaryngol Head Neck Surg. 2022 Sep; 74(3): 363–368. Published online 2021 Aug 3. doi: 10.1007/s12070-021-02767-7

PMCID:: PMC9535041

Abstract Article PDF–181K

Select item 879108412.

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

Abstract Article PDF–606K

Select item 860504113.

A Randomized Controlled Trial of SGS742, a GABA-B Receptor Antagonist, for SSADH Deficiency

John M. Schreiber, Edythe Wiggs, Rose Cuento, Gina Norato, Irene H. Dustin, Rachel Rolinski, Alison Austermuehle, Xiangping Zhou, Sara K. Inati, K. Michael Gibson, Phillip L. Pearl, William H. Theodore

J Child Neurol. Author manuscript; available in PMC 2021 Dec 11.

Published in final edited form as: J Child Neurol. 2021 May 20 : 8830738211012804. Published online 2021 May 20. doi: 10.1177/08830738211012804