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1990 2
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1996 1
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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 Free article. 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. Here, we report a novel case with the syndrome with a novel insertion …
Schinzel-Giedion syndrome (SGS) is a rare autosomal dominant inheritance disorder. Heterozygous de novo mutations in th …
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. So far, 13 well-documented cases have been reported allowing major and minor traits of the syndrome to be distinguished. Since no genetic marker is available, …
Schinzel-Giedion syndrome is rare and likely to be inherited as an autosomal recessive trait. So far, 13 well-documente …
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 …
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.
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 …
[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.
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. So far, 20 patients have been reported. This is the first report of the syndrome demonstrated in Orien …
The Schinzel-Giedion syndrome is characterized by severe midface retraction, multiple skull anomalies, clubfeet, and ca …
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 proces …
Schinzel-Giedion syndrome is a rare multiple congenital malformation syndrome defined by an evocative midfacial …
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 …
[Schinzel-Giedion syndrome].
Kim KC. Kim KC. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):611-2. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11528923 Review. Japanese. No abstract available.
14 results