Literature DB >> 21371013

SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome.

K Suphapeetiporn, C Srichomthong, V Shotelersuk.   

Abstract

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Year:  2011        PMID： 21371013     DOI： 10.1111/j.1399-0004.2010.01552.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  13 in total

1.  [Unusual facies with delayed development and multiple malformations in a 14-month-old boy].

Authors:  Tong Lu; Yi Wang
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2017-08

Review 2.  Somatic SETBP1 mutations in myeloid neoplasms.

Authors:  Hideki Makishima
Journal:  Int J Hematol       Date:  2017-04-26       Impact factor: 2.490

3.  Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus.

Authors:  Malte Spielmann; Francesco Brancati; Peter M Krawitz; Peter N Robinson; Daniel M Ibrahim; Martin Franke; Jochen Hecht; Silke Lohan; Katarina Dathe; Anna Maria Nardone; Paola Ferrari; Antonio Landi; Lars Wittler; Bernd Timmermann; Danny Chan; Ulrich Mennen; Eva Klopocki; Stefan Mundlos
Journal:  Am J Hum Genet       Date:  2012-09-27       Impact factor: 11.025

Review 4.  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

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.  Common variation within the SETBP1 gene is associated with reading-related skills and patterns of functional neural activation.

Authors:  Meaghan V Perdue; Sara Mascheretti; Sergey A Kornilov; Kaja K Jasińska; Kayleigh Ryherd; W Einar Mencl; Stephen J Frost; Elena L Grigorenko; Kenneth R Pugh; Nicole Landi
Journal:  Neuropsychologia       Date:  2018-08-23       Impact factor: 3.139

7.  SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome.

Authors:  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
Journal:  Nat Commun       Date:  2021-06-30       Impact factor: 14.919

8.  Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome.

Authors:  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
Journal:  Clin Case Rep       Date:  2016-11-17

9.  Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features.

Authors:  Ozgul Bulut; Zeynep Ince; Umut Altunoglu; Sukran Yildirim; Asuman Coban
Journal:  Case Rep Genet       Date:  2017-12-03

Review 10.  SETBP1 dysregulation in congenital disorders and myeloid neoplasms.

Authors:  Nicoletta Coccaro; Giuseppina Tota; Antonella Zagaria; Luisa Anelli; Giorgina Specchia; Francesco Albano
Journal:  Oncotarget       Date:  2017-04-19
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