Literature DB >> 11285076

A case of Schinzel-Giedion syndrome complicated with progressive severe gingival hyperplasia and progressive brain atrophy.

T Kondoh1, N Kamimura, A Tsuru, T Matsumoto, T Matsuzaka, H Moriuchi.   

Abstract

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Year:  2001        PMID： 11285076     DOI： 10.1046/j.1442-200x.2001.01348.x

Source DB:  PubMed          Journal:  Pediatr Int        ISSN： 1328-8067            Impact factor:   1.524


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  6 in total

Review 1.  Genetic and biologic classification of infantile spasms.

Authors:  Alex R Paciorkowski; Liu Lin Thio; William B Dobyns
Journal:  Pediatr Neurol       Date:  2011-12       Impact factor: 3.372

Review 2.  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

Review 3.  Gingival enlargements: Differential diagnosis and review of literature.

Authors:  Amit Arvind Agrawal
Journal:  World J Clin Cases       Date:  2015-09-16       Impact factor: 1.337

4.  Scoliosis in a case of Schinzel-Giedion syndrome.

Authors:  Amit K Sharma; Joseph A Gonzales
Journal:  HSS J       Date:  2009-06-17

5.  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

6.  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
  6 in total

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