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Page 1
Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria.
Liu WL, He ZX, Li F, Ai R, Ma HW. Liu WL, et al. J Genet. 2018 Mar;97(1):35-46. J Genet. 2018. PMID: 29666323 Review.
Schinzel-Giedion syndrome (SGS) is a rare autosomal dominant inheritance disorder. Heterozygous de novo mutations in the SETBP1 gene have been identified as the genetic cause of SGS. ...
Schinzel-Giedion syndrome (SGS) is a rare autosomal dominant inheritance disorder. Heterozygous de novo mutations in th
The Schinzel-Giedion syndrome.
al-Gazali LI, Farndon P, Burn J, Flannery DB, Davison C, Mueller RF. al-Gazali LI, et al. J Med Genet. 1990 Jan;27(1):42-7. doi: 10.1136/jmg.27.1.42. J Med Genet. 1990. PMID: 2407846 Free PMC article. Review. No abstract available.
Schinzel-Giedion syndrome.
Touge H, Fujinaga T, Okuda M, Aoshi H. Touge H, et al. Int J Urol. 2001 May;8(5):237-41. doi: 10.1046/j.1442-2042.2001.00291.x. Int J Urol. 2001. PMID: 11328425 Free article. Review.
Abdominal ultrasonography, computed tomography and drip infusion pyelogram showed left severe hydronephrosis and right moderate hydronephrosis. Having diagnosed Schinzel-Giedion syndrome, a left ureteroneocystostomy with tailoring was performed to preserve re …
Abdominal ultrasonography, computed tomography and drip infusion pyelogram showed left severe hydronephrosis and right moderate hydronephros …
Three new cases of the Schinzel-Giedion syndrome and review of the literature.
Labrune P, Lyonnet S, Zupan V, Imbert MC, Goutieres F, Hubert P, Le Merrer M. Labrune P, et al. Am J Med Genet. 1994 Mar 1;50(1):90-3. doi: 10.1002/ajmg.1320500120. Am J Med Genet. 1994. PMID: 8160760 Review.
Schinzel-Giedion syndrome is rare and likely to be inherited as an autosomal recessive trait. ...Since no genetic marker is available, the prenatal diagnosis of Schinzel-Giedion syndrome relies on ultrasound examination, especially detect
Schinzel-Giedion syndrome is rare and likely to be inherited as an autosomal recessive trait. ...Since no genetic marke
A patient with Schinzel-Giedion syndrome and a review of 20 patients.
Okamoto N, Takeuchi M, Kitajima H, Hosokawa S. Okamoto N, et al. Jpn J Hum Genet. 1995 Jun;40(2):189-93. doi: 10.1007/BF01883576. Jpn J Hum Genet. 1995. PMID: 7662999 Review.
The Schinzel-Giedion syndrome is characterized by severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations. ...
The Schinzel-Giedion syndrome is characterized by severe midface retraction, multiple skull anomalies, clubfeet, and ca …
The Schinzel-Giedion syndrome. A case report and review of the literature.
Pul M, Yilmaz N, Komsuoglu B. Pul M, et al. Clin Pediatr (Phila). 1990 Apr;29(4):235-9. doi: 10.1177/000992289002900407. Clin Pediatr (Phila). 1990. PMID: 2184969 Review.
The authors discuss a 1-day-old boy who had Schinzel-Giedion syndrome. This is the fifth case reported in the literature, and it presents additional abnormalities that have not been reported previously. The Schinzel-Giedion syndrome inclu …
The authors discuss a 1-day-old boy who had Schinzel-Giedion syndrome. This is the fifth case reported in the literatur …
Novel SETBP1 D874V adjacent to the degron causes canonical schinzel-giedion syndrome: a case report and review of the literature.
Zheng J, Gu M, Xiao S, Li C, Mi H, Xu X. Zheng J, et al. BMC Pediatr. 2024 May 6;24(1):309. doi: 10.1186/s12887-024-04779-y. BMC Pediatr. 2024. PMID: 38711130 Free PMC article. Review.
Schinzel-Giedion syndrome (SGS) is a severe multisystem disorder characterized by distinctive facial features, profound intellectual disability, refractory epilepsy, cortical visual impairment, hearing loss, and various congenital anomalies. ...
Schinzel-Giedion syndrome (SGS) is a severe multisystem disorder characterized by distinctive facial features, profound
Somatic SETBP1 mutations in myeloid neoplasms.
Makishima H. Makishima H. Int J Hematol. 2017 Jun;105(6):732-742. doi: 10.1007/s12185-017-2241-1. Epub 2017 Apr 26. Int J Hematol. 2017. PMID: 28447248 Review.
Surprisingly, its recurrent somatic activated mutations are located at the identical positions of germline mutations reported in congenital Schinzel-Giedion syndrome. In general, somatic SETBP1 mutations have a significant clinical impact on the outcome as po …
Surprisingly, its recurrent somatic activated mutations are located at the identical positions of germline mutations reported in congenital …
Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases.
Minn D, Christmann D, De Saint-Martin A, Alembik Y, Eliot M, Mack G, Fischbach M, Flament J, Veillon F, Dollfus H. Minn D, et al. Am J Med Genet. 2002 May 1;109(3):211-7. doi: 10.1002/ajmg.10348. Am J Med Genet. 2002. PMID: 11977181 Review.
Schinzel-Giedion syndrome is a rare multiple congenital malformation syndrome defined by an evocative midfacial retraction, kidney and urinary malformations and multiple skeletal abnormalities associated to a recently described neurodegenerative process. ...
Schinzel-Giedion syndrome is a rare multiple congenital malformation syndrome defined by an evocative midfacial retract
[Schinzel-Giedion syndrome].
Okamoto N. Okamoto N. Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):35-7. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11057134 Review. Japanese. No abstract available.
15 results