Literature DB >> 2407846

The Schinzel-Giedion syndrome.

L I al-Gazali1, P Farndon, J Burn, D B Flannery, C Davison, R F Mueller.   

Abstract

Mesh：

Year:  1990        PMID： 2407846      PMCID： PMC1016879          DOI： 10.1136/jmg.27.1.42

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  3 in total

1.  A further case of a new syndrome including midface retraction, hypertrichosis, and skeletal anomalies.

Authors:  D Donnai; R Harris
Journal:  J Med Genet       Date:  1979-12       Impact factor: 6.318

2.  Congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation: the Schinzel-Giedion syndrome.

Authors:  R I Kelley; E H Zackai; E B Charney
Journal:  J Pediatr       Date:  1982-06       Impact factor: 4.406

3.  A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs.

Authors:  A Schinzel; A Giedion
Journal:  Am J Med Genet       Date:  1978
  3 in total
  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.  Putative Roles of SETBP1 Dosage on the SET Oncogene to Affect Brain Development.

Authors:  Lilit Antonyan; Carl Ernst
Journal:  Front Neurosci       Date:  2022-05-24       Impact factor: 5.152

3.  Schinzel-Giedion syndrome.

Authors:  A Verloes; D Moës; L Palumbo; C Elmer; A François; G Bricteux
Journal:  Eur J Pediatr       Date:  1993-05       Impact factor: 3.183

4.  Clinical and radiological findings in Schinzel-Giedion syndrome.

Authors:  Mudaffer Al-Mudaffer; Christine Oley; Sue Price; Ian Hayes; Alison Stewart; Christine M Hall; William Reardon
Journal:  Eur J Pediatr       Date:  2008-05-07       Impact factor: 3.183

5.  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

Review 6.  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
  6 in total

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