Literature DB >> 22473152

Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case.

Jodi Marianne Lestner1, Wui K Chong, Amaka Offiiah, Jonathan Kefas, Anthony M Vandersteen.   

Abstract

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Year:  2012        PMID： 22473152     DOI： 10.1097/MCD.0b013e3283518f1e

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  6 in total

Review 1.  Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria.

Authors:  Wei-Liang Liu; Zhi-Xu He; Fang Li; Rong Ai; Hong-Wei Ma
Journal:  J Genet       Date:  2018-03       Impact factor: 1.166

2.  Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation.

Authors:  Jung Min Ko; Byung Chan Lim; Ki Joong Kim; Yong Seung Hwang; Hye Won Ryu; Jung Ho Lee; Jon Su Kim; Jong-Hee Chae
Journal:  Childs Nerv Syst       Date:  2013-02-12       Impact factor: 1.475

3. 

Authors:  Lofty-John Anyanwu; Aminu Mohammad; Habeeb Muhammad; Ibrahim Aliyu; Lawal Abdullahi; Aliyu Farinyaro; Abdulkarim Iya
Journal:  Pan Afr Med J       Date:  2017-01-23

4.  Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

Authors:  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
Journal:  PLoS Genet       Date:  2017-03-27       Impact factor: 5.917

5.  Detection of a novel SETBP1 variant in a Chinese neonate with Schinzel-Giedion syndrome.

Authors:  Hansong Yang; Zhiyong Liu; Dongmei Chen; Weiru Lin; Lin Wang; Tianfeng Chen; Ruiquan Wang; Xialin Yan
Journal:  Front Pediatr       Date:  2022-09-06       Impact factor: 3.569

6.  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.

Authors:  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
Journal:  Ital J Pediatr       Date:  2020-05-27       Impact factor: 2.638
  6 in total

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