Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 181

1.

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
2.

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
3.

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
4.

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
5.

[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. doi: 10.1016/j.anpedi.2014.06.017. Epub 2014 Jul 28. Spanish.

6.

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
7.

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
8.

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
9.

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
10.

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. doi: 10.1002/ajmg.a.34396. Epub 2011 Dec 2.

PMID:
22140078
11.

The genetic basis of DOORS syndrome: an exome-sequencing study.

Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Repetto GM, Golabi M, Blair E, Male A, Giuliano F, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Wieczorek D, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM.

Lancet Neurol. 2014 Jan;13(1):44-58. doi: 10.1016/S1474-4422(13)70265-5. Epub 2013 Nov 29.

12.

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
13.

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.

PMID:
12767465
14.

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
15.

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
16.

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
17.

Epilepsy in KCNH1-related syndromes.

Mastrangelo M, Scheffer IE, Bramswig NC, Nair LD, Myers CT, Dentici ML, Korenke GC, Schoch K, Campeau PM, White SM, Shashi V, Kansagra S, Van Essen AJ, Leuzzi V.

Epileptic Disord. 2016 Jun 1;18(2):123-36. doi: 10.1684/epd.2016.0830.

PMID:
27267311
18.

A further patient with van Maldergem syndrome.

Neuhann TM, Müller D, Hackmann K, Holzinger S, Schrock E, Di Donato N.

Eur J Med Genet. 2012 Jun;55(6-7):423-8. doi: 10.1016/j.ejmg.2012.02.012. Epub 2012 Mar 13.

PMID:
22469822
19.

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
20.

DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

Campeau PM, Hennekam RC; DOORS syndrome collaborative group..

Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):327-32. doi: 10.1002/ajmg.c.31412. Epub 2014 Aug 28.

PMID:
25169651

Supplemental Content

Support Center