160 related articles for article (PubMed ID: 38711130)
21. Cell-type-specific gene expression and regulation in the cerebral cortex and kidney of atypical Setbp1
Whitlock JH; Soelter TM; Howton TC; Wilk EJ; Oza VH; Lasseigne BN
J Cell Mol Med; 2023 Nov; 27(22):3565-3577. PubMed ID: 37872881
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. Identification of
Leonardi E; Bettella E; Pelizza MF; Aspromonte MC; Polli R; Boniver C; Sartori S; Milani D; Murgia A
Front Neurol; 2020; 11():593446. PubMed ID: 33391157
[No Abstract] [Full Text] [Related]
24. The landscape of SETBP1 gene expression and transcription factor activity across human tissues.
Whitlock JH; Wilk EJ; Howton TC; Clark AD; Lasseigne BN
PLoS One; 2024; 19(1):e0296328. PubMed ID: 38165902
[TBL] [Abstract][Full Text] [Related]
25. The impact of SETBP1 mutations in neurological diseases and cancer.
Kohyanagi N; Ohama T
Genes Cells; 2023 Sep; 28(9):629-641. PubMed ID: 37489294
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis.
Albano LM; Sakae PP; Mataloun MM; Leone CR; Bertola DR; Kim CA
Rev Hosp Clin Fac Med Sao Paulo; 2004 Apr; 59(2):89-92. PubMed ID: 15122424
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features.
Bulut O; Ince Z; Altunoglu U; Yildirim S; Coban A
Case Rep Genet; 2017; 2017():3740524. PubMed ID: 29333303
[TBL] [Abstract][Full Text] [Related]
30. Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations.
Oudesluijs G; Simon ME; Burggraaf RH; Waterham HR; Hennekam RC
Am J Med Genet A; 2012 Feb; 158A(2):292-7. PubMed ID: 22140078
[TBL] [Abstract][Full Text] [Related]
31. Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria.
Lehman AM; McFadden D; Pugash D; Sangha K; Gibson WT; Patel MS
Am J Med Genet A; 2008 May; 146A(10):1299-306. PubMed ID: 18398855
[TBL] [Abstract][Full Text] [Related]
32. Schinzel-Giedion syndrome: a further cause of West syndrome.
Grosso S; Pagano C; Cioni M; Di Bartolo RM; Morgese G; Balestri P
Brain Dev; 2003 Jun; 25(4):294-8. PubMed ID: 12767465
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
Asadollahi R; Zweier M; Gogoll L; Schiffmann R; Sticht H; Steindl K; Rauch A
Eur J Med Genet; 2017 Sep; 60(9):451-464. PubMed ID: 28645799
[TBL] [Abstract][Full Text] [Related]
35. [A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)].
Pira-Paredes SM; Montoya-Villada JH; Franco-Restrepo JL; Moncada-Velez M; Cornejo JW
Rev Neurol; 2017 Jun; 64(11):481-488. PubMed ID: 28555453
[TBL] [Abstract][Full Text] [Related]
36. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Kolanczyk M; Krawitz P; Hecht J; Hupalowska A; Miaczynska M; Marschner K; Schlack C; Emmerich D; Kobus K; Kornak U; Robinson PN; Plecko B; Grangl G; Uhrig S; Mundlos S; Horn D
Eur J Hum Genet; 2015 May; 23(5):633-8. PubMed ID: 24916641
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K
Gripp KW; Smithson SF; Scurr IJ; Baptista J; Majumdar A; Pierre G; Williams M; Henderson LB; Wentzensen IM; McLaughlin H; Leeuwen L; Simon MEH; van Binsbergen E; Dinulos MBP; Kaplan JD; McRae A; Superti-Furga A; Good JM; Kutsche K
Eur J Hum Genet; 2021 Sep; 29(9):1384-1395. PubMed ID: 33594261
[TBL] [Abstract][Full Text] [Related]
39. A Novel
Vrkić Boban I; Sekiguchi F; Lozić M; Miyake N; Matsumoto N; Lozić B
J Pediatr Genet; 2022 Jun; 11(2):135-138. PubMed ID: 35769969
[TBL] [Abstract][Full Text] [Related]
40. Phenotype-genotype complexities: opening DOORS.
Berkovic SF; Gecz J
Lancet Neurol; 2014 Jan; 13(1):24-5. PubMed ID: 24291219
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
