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Items: 1 to 20 of 117

1.

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
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.

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
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.

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. Epub 2004 Apr 26.

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.

[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.

8.

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
9.

The Schinzel-Giedion syndrome. A case report and review of the literature.

Pul M, Yilmaz N, Komsuoglu B.

Clin Pediatr (Phila). 1990 Apr;29(4):235-9. Review.

PMID:
2184969
10.

Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review.

Manning MA, Cunniff CM, Colby CE, El-Sayed YY, Hoyme HE.

Am J Med Genet A. 2004 Mar 15;125A(3):240-9. Review.

PMID:
14994231
11.

Robinow syndrome: report of two cases and review of the literature.

Al Kaissi A, Bieganski T, Baranska D, Chehida FB, Gharbi H, Ghachem MB, Hendaoui L, Safi H, Kozlowski K.

Australas Radiol. 2007 Feb;51(1):83-6. Review.

PMID:
17217496
12.

Slow growth of hair and nails, craniofacial abnormalities and brachyphalangy.

Gruber R, Schossig AS, Alnutaifi KA, Martinz V, Blunder S, Zschocke J, Schmuth M, Tinschert S.

J Dtsch Dermatol Ges. 2013 Oct;11(10):1023-5. doi: 10.1111/ddg.12116. Epub 2013 May 13. No abstract available.

PMID:
23668231
13.

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
14.

Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection.

Olney RS, Hoyme HE, Roche F, Ferguson K, Hintz S, Madan A.

Am J Med Genet. 2001 Nov 1;103(4):295-301.

PMID:
11746009
15.

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
16.

Further support for first-trimester disruption causing the oromandibular-limb hypogenesis spectrum of anomalies.

Milam RW Jr, Cabrera MT, Carter LA, Warner DD, Wereszczak JK, Aylsworth AS.

Clin Dysmorphol. 2014 Jul;23(3):101-4. doi: 10.1097/MCD.0000000000000039. No abstract available.

PMID:
24859495
17.

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
18.

Hanhart syndrome.

Dogan DG, Dogan M, Aslan M, Menekse E, Yakinci C.

Genet Couns. 2010;21(4):359-62.

PMID:
21290964
19.

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
20.

Hypoglossia-hypodactyly syndrome in a newborn.

Gathwala G, Singh J, Dalal P, Garg A.

J Craniomaxillofac Surg. 2011 Mar;39(2):99-101. doi: 10.1016/j.jcms.2010.06.007. Epub 2010 Jul 29.

PMID:
20673638

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