207 related articles for article (PubMed ID: 21507589)
1. Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy.
Watanabe S; Murayama A; Haginoya K; Tanaka S; Togashi N; Abukawa D; Sato A; Imaizumi M; Yoshikawa H; Takayama R; Wakusawa K; Kobayashi S; Sato I; Onuma A
Brain Dev; 2012 Feb; 34(2):151-5. PubMed ID: 21507589
[TBL] [Abstract][Full Text] [Related]
2. Cobblestone lissencephaly in Schinzel-Giedion syndrome.
Lach B; Arredondo J
J Child Neurol; 2013 Feb; 28(2):259-63. PubMed ID: 22532548
[TBL] [Abstract][Full Text] [Related]
3. West syndrome in a patient with Schinzel-Giedion syndrome.
Miyake F; Kuroda Y; Naruto T; Ohashi I; Takano K; Kurosawa K
J Child Neurol; 2015 Jun; 30(7):932-6. PubMed ID: 25028416
[TBL] [Abstract][Full Text] [Related]
4. Refractory sacrococcygeal germ cell tumor in Schinzel-Giedion syndrome.
Kishimoto K; Kobayashi R; Yonemaru N; Yamamoto H; Tsujioka T; Sano H; Suzuki D; Yasuda K; Suzuki M; Ando A; Tonoki H; Iizuka S; Uetake K; Kobayashi K
J Pediatr Hematol Oncol; 2015 May; 37(4):e238-41. PubMed ID: 25171454
[TBL] [Abstract][Full Text] [Related]
5. Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation.
Takeuchi A; Okamoto N; Fujinaga S; Morita H; Shimizu J; Akiyama T; Ninomiya S; Takanashi J; Kubo T
Eur J Med Genet; 2015 Aug; 58(8):369-71. PubMed ID: 26096993
[TBL] [Abstract][Full Text] [Related]
6. Parkinsonism may be part of the symptom complex of DOOR syndrome.
Bilo L; Peluso S; Antenora A; De Rosa A; Auletta G; Pappatà S; De Michele G
Parkinsonism Relat Disord; 2014 Apr; 20(4):463-5. PubMed ID: 24486243
[No Abstract] [Full Text] [Related]
7. [Schinzel-Giedion syndrome: a new mutation in SETBP1].
López-González V; Domingo-Jiménez MR; Burglen L; Ballesta-Martínez MJ; Whalen S; Piñero-Fernández JA; Guillén-Navarro E
An Pediatr (Barc); 2015 Jan; 82(1):e12-6. PubMed ID: 25082129
[TBL] [Abstract][Full Text] [Related]
8. Early myoclonic encephalopathy.
Kamate M; Mahantshetti N; Chetal V
Indian Pediatr; 2009 Sep; 46(9):804-6. PubMed ID: 19812426
[TBL] [Abstract][Full Text] [Related]
9. Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.
Herenger Y; Stoetzel C; Schaefer E; Scheidecker S; Manière MC; Pelletier V; Alembik Y; Christmann D; Clavert JM; Terzic J; Fischbach M; De Saint Martin A; Dollfus H
Eur J Med Genet; 2015 Sep; 58(9):479-87. PubMed ID: 26188272
[TBL] [Abstract][Full Text] [Related]
10. Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.
Carvalho E; Honjo R; Magalhães M; Yamamoto G; Rocha K; Naslavsky M; Zatz M; Passos-Bueno MR; Kim C; Bertola D
Am J Med Genet A; 2015 May; 167A(5):1039-46. PubMed ID: 25663181
[TBL] [Abstract][Full Text] [Related]
11. SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome.
Suphapeetiporn K; Srichomthong C; Shotelersuk V
Clin Genet; 2011 Apr; 79(4):391-3. PubMed ID: 21371013
[No Abstract] [Full Text] [Related]
12. Early myoclonic encephalopathy and nonketotic hyperglycinemia.
Rossi S; Daniele I; Bastrenta P; Mastrangelo M; Lista G
Pediatr Neurol; 2009 Nov; 41(5):371-4. PubMed ID: 19818941
[TBL] [Abstract][Full Text] [Related]
13. [Unusual facies with delayed development and multiple malformations in a 14-month-old boy].
Lu T; Wang Y
Zhongguo Dang Dai Er Ke Za Zhi; 2017 Aug; 19(8):921-925. PubMed ID: 28774369
[TBL] [Abstract][Full Text] [Related]
14. Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case.
Lestner JM; Chong WK; Offiiah A; Kefas J; Vandersteen AM
Clin Dysmorphol; 2012 Jul; 21(3):152-154. PubMed ID: 22473152
[No Abstract] [Full Text] [Related]
15. DOOR syndrome: A case report and its embryological basis.
Santos M; Reis-Rego Â; Coutinho M; Almeida E Sousa C
Int J Pediatr Otorhinolaryngol; 2019 Feb; 117():57-60. PubMed ID: 30579089
[TBL] [Abstract][Full Text] [Related]
16. Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria.
Liu WL; He ZX; Li F; Ai R; Ma HW
J Genet; 2018 Mar; 97(1):35-46. PubMed ID: 29666323
[TBL] [Abstract][Full Text] [Related]
17. A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome.
Sullivan JA; Stong N; Baugh EH; McDonald MT; Takeuchi A; Shashi V
Am J Med Genet A; 2020 Aug; 182(8):1947-1951. PubMed ID: 32445275
[TBL] [Abstract][Full Text] [Related]
18. 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
BMC Pediatr; 2024 May; 24(1):309. PubMed ID: 38711130
[TBL] [Abstract][Full Text] [Related]
19. Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation.
Ko JM; Lim BC; Kim KJ; Hwang YS; Ryu HW; Lee JH; Kim JS; Chae JH
Childs Nerv Syst; 2013 Apr; 29(4):525-9. PubMed ID: 23400866
[TBL] [Abstract][Full Text] [Related]
20. Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.
Filges I; Shimojima K; Okamoto N; Röthlisberger B; Weber P; Huber AR; Nishizawa T; Datta AN; Miny P; Yamamoto T
J Med Genet; 2011 Feb; 48(2):117-22. PubMed ID: 21037274
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]