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Items: 1 to 20 of 21

1.

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 27;13(3):e1006683. doi: 10.1371/journal.pgen.1006683. eCollection 2017 Mar.

2.

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. doi: 10.1016/j.ejmg.2015.07.004. Epub 2015 Jul 15.

PMID:
26188272
3.

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. doi: 10.1016/j.ejmg.2015.05.006. Epub 2015 Jun 19.

PMID:
26096993
4.

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. doi: 10.1002/ajmg.a.36789. Epub 2015 Feb 7.

PMID:
25663181
5.

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. doi: 10.1097/MPH.0000000000000236.

PMID:
25171454
6.

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. doi: 10.1177/0883073814541468. Epub 2014 Jul 14.

PMID:
25028416
7.

Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands.

Alessandri JL, Cuillier F, Malan V, Brayer C, Grondard M, Jacquemot-Dekkak L, Kieffer-Traversier M, Pierre F, Laurain C, Samperiz S, Tiran-Rajaofera I, Ramful D.

Am J Med Genet A. 2014 Mar;164A(3):648-54. doi: 10.1002/ajmg.a.36323. Epub 2013 Dec 19.

PMID:
24357154
8.

Somatic SETBP1 mutations in myeloid malignancies.

Makishima H, Yoshida K, Nguyen N, Przychodzen B, Sanada M, Okuno Y, Ng KP, Gudmundsson KO, Vishwakarma BA, Jerez A, Gomez-Segui I, Takahashi M, Shiraishi Y, Nagata Y, Guinta K, Mori H, Sekeres MA, Chiba K, Tanaka H, Muramatsu H, Sakaguchi H, Paquette RL, McDevitt MA, Kojima S, Saunthararajah Y, Miyano S, Shih LY, Du Y, Ogawa S, Maciejewski JP.

Nat Genet. 2013 Aug;45(8):942-6. doi: 10.1038/ng.2696. Epub 2013 Jul 7.

9.

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. doi: 10.1007/s00381-013-2047-2. Epub 2013 Feb 12.

PMID:
23400866
10.

Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.

Piazza R, Valletta S, Winkelmann N, Redaelli S, Spinelli R, Pirola A, Antolini L, Mologni L, Donadoni C, Papaemmanuil E, Schnittger S, Kim DW, Boultwood J, Rossi F, Gaipa G, De Martini GP, di Celle PF, Jang HG, Fantin V, Bignell GR, Magistroni V, Haferlach T, Pogliani EM, Campbell PJ, Chase AJ, Tapper WJ, Cross NC, Gambacorti-Passerini C.

Nat Genet. 2013 Jan;45(1):18-24. doi: 10.1038/ng.2495. Epub 2012 Dec 9.

11.

A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.

Ku CS, Polychronakos C, Tan EK, Naidoo N, Pawitan Y, Roukos DH, Mort M, Cooper DN.

Mol Psychiatry. 2013 Feb;18(2):141-53. doi: 10.1038/mp.2012.58. Epub 2012 May 29. Review.

PMID:
22641181
12.

Cobblestone lissencephaly in Schinzel-Giedion syndrome.

Lach B, Arredondo J.

J Child Neurol. 2013 Feb;28(2):259-63. doi: 10.1177/0883073812441250. Epub 2012 Apr 24.

PMID:
22532548
13.

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):152-4. doi: 10.1097/MCD.0b013e3283518f1e. No abstract available.

PMID:
22473152
14.

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. doi: 10.1016/j.ejmg.2012.01.005. Epub 2012 Jan 25.

PMID:
22333924
15.

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. doi: 10.1016/j.braindev.2011.03.010. Epub 2011 Apr 19.

PMID:
21507589
16.

SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome.

Suphapeetiporn K, Srichomthong C, Shotelersuk V.

Clin Genet. 2011 Apr;79(4):391-3. doi: 10.1111/j.1399-0004.2010.01552.x. No abstract available.

PMID:
21371013
17.

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. doi: 10.1136/jmg.2010.084582. Epub 2010 Oct 30.

PMID:
21037274
18.

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.

Hoischen A, van Bon BW, Gilissen C, Arts P, van Lier B, Steehouwer M, de Vries P, de Reuver R, Wieskamp N, Mortier G, Devriendt K, Amorim MZ, Revencu N, Kidd A, Barbosa M, Turner A, Smith J, Oley C, Henderson A, Hayes IM, Thompson EM, Brunner HG, de Vries BB, Veltman JA.

Nat Genet. 2010 Jun;42(6):483-5. doi: 10.1038/ng.581. Epub 2010 May 2.

PMID:
20436468
19.

Clinical and radiological findings in Schinzel-Giedion syndrome.

Al-Mudaffer M, Oley C, Price S, Hayes I, Stewart A, Hall CM, Reardon W.

Eur J Pediatr. 2008 Dec;167(12):1399-407. doi: 10.1007/s00431-008-0683-4. Epub 2008 May 7.

PMID:
18461363
20.

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 15;146A(10):1299-306. doi: 10.1002/ajmg.a.32277.

PMID:
18398855

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