158 related articles for article (PubMed ID: 36113068)
1. Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1.
Zhou Y; Quan Y; Wu Y; Zhang Y
J Int Med Res; 2022 Sep; 50(9):3000605221121955. PubMed ID: 36113068
[TBL] [Abstract][Full Text] [Related]
2. Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of chromosome 16p11.2.
Li M; Liu L; Wu Y; Guan J
J Int Med Res; 2022 Jul; 50(7):3000605221109400. PubMed ID: 35808818
[TBL] [Abstract][Full Text] [Related]
3. Prenatal diagnosis and molecular cytogenetic characterization of an interstitial deletion of 18q12.1-q12.3 encompassing DTNA, CELF4 and SETBP1.
Chen CP; Hsieh CH; Chern SR; Wu PS; Chen SW; Lai ST; Chuang TY; Yang CW; Lee CC; Wang W
Taiwan J Obstet Gynecol; 2017 Dec; 56(6):847-851. PubMed ID: 29241933
[TBL] [Abstract][Full Text] [Related]
4. 372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment.
Marseglia G; Scordo MR; Pescucci C; Nannetti G; Biagini E; Scandurra V; Gerundino F; Magi A; Benelli M; Torricelli F
Eur J Med Genet; 2012 Mar; 55(3):216-21. PubMed ID: 22333924
[TBL] [Abstract][Full Text] [Related]
5. Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
Acuna-Hidalgo R; Deriziotis P; Steehouwer M; Gilissen C; Graham SA; van Dam S; Hoover-Fong J; Telegrafi AB; Destree A; Smigiel R; Lambie LA; Kayserili H; Altunoglu U; Lapi E; Uzielli ML; Aracena M; Nur BG; Mihci E; Moreira LM; Borges Ferreira V; Horovitz DD; da Rocha KM; Jezela-Stanek A; Brooks AS; Reutter H; Cohen JS; Fatemi A; Smitka M; Grebe TA; Di Donato N; Deshpande C; Vandersteen A; Marques Lourenço C; Dufke A; Rossier E; Andre G; Baumer A; Spencer C; McGaughran J; Franke L; Veltman JA; De Vries BB; Schinzel A; Fisher SE; Hoischen A; van Bon BW
PLoS Genet; 2017 Mar; 13(3):e1006683. PubMed ID: 28346496
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. [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]
9. The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.
Leone MP; Palumbo P; Palumbo O; Di Muro E; Chetta M; Laforgia N; Resta N; Stella A; Castellana S; Mazza T; Castori M; Carella M; Bukvic N
Ital J Pediatr; 2020 May; 46(1):74. PubMed ID: 32460883
[TBL] [Abstract][Full Text] [Related]
10. Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 15q11.2 microdeletion in a Chinese family.
Tang W; Chen G; Xia J; Zhang Y
Mol Cytogenet; 2022 Jul; 15(1):28. PubMed ID: 35787815
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. Clinical and Genetic Study of Three Inherited Microdeletions of Chromosome 16p11.2.
Liu F; Liu R; Yu C; Duan J; Hu Y; Luo L
Altern Ther Health Med; 2024 Mar; 30(3):190-192. PubMed ID: 37856819
[TBL] [Abstract][Full Text] [Related]
14. Prenatal diagnosis and molecular cytogenetic characterization of a chromosome 15q24 microdeletion.
Chen CP; Wang LK; Chern SR; Wu PS; Chen SW; Wu FT; Chen YY; Pan CW; Wang W
Taiwan J Obstet Gynecol; 2020 May; 59(3):432-436. PubMed ID: 32416893
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Genetic effects of a 13q31.1 microdeletion detected by noninvasive prenatal testing (NIPT).
Jia Y; Zhao H; Shi D; Peng W; Xie L; Wang W; Jiang F; Zhang H; Wang X
Int J Clin Exp Pathol; 2014; 7(10):7003-11. PubMed ID: 25400788
[TBL] [Abstract][Full Text] [Related]
18. Prenatal diagnosis by chromosomal microarray analysis.
Levy B; Wapner R
Fertil Steril; 2018 Feb; 109(2):201-212. PubMed ID: 29447663
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. SETBP1 induces transcription of a network of development genes by acting as an epigenetic hub.
Piazza R; Magistroni V; Redaelli S; Mauri M; Massimino L; Sessa A; Peronaci M; Lalowski M; Soliymani R; Mezzatesta C; Pirola A; Banfi F; Rubio A; Rea D; Stagno F; Usala E; Martino B; Campiotti L; Merli M; Passamonti F; Onida F; Morotti A; Pavesi F; Bregni M; Broccoli V; Baumann M; Gambacorti-Passerini C
Nat Commun; 2018 Jun; 9(1):2192. PubMed ID: 29875417
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
