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Items: 1 to 20 of 111

1.

Diagnostic approach of angelman syndrome.

Duca DG, Craiu D, Boer M, Chirieac SM, Arghir A, Tutulan-Cunita A, Barca D, Iliescu C, Lungeanu A, Magureanu S, Budisteanu M.

Maedica (Buchar). 2013 Sep;8(4):321-7.

2.

Angelman syndrome: a review of the clinical and genetic aspects.

Clayton-Smith J, Laan L.

J Med Genet. 2003 Feb;40(2):87-95. Review.

3.

[Genetic and clinical study on 17 cases of Angelman syndrome with deletion of 15q11-13].

Bai JL, Song F, Zou LP, Yang XY, Qu YJ, Wang LW, Yang YL, Jin YW, Wang H.

Zhonghua Er Ke Za Zhi. 2010 Dec;48(12):939-43. Chinese.

PMID:
21215190
4.

Epilepsy in patients with Angelman syndrome.

Fiumara A, Pittalà A, Cocuzza M, Sorge G.

Ital J Pediatr. 2010 Apr 16;36:31. doi: 10.1186/1824-7288-36-31. Review.

5.

Neurological aspects of the Angelman syndrome.

Williams CA.

Brain Dev. 2005 Mar;27(2):88-94. Review.

PMID:
15668046
6.

Angelman syndrome revisited.

Paprocka J, Jamroz E, Szwed-Białozyt B, Jezela-Stanek A, Kopyta I, Marszał E.

Neurologist. 2007 Sep;13(5):305-12.

PMID:
17848870
7.

Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion.

Neubert G, von Au K, Drossel K, Tzschach A, Horn D, Nickel R, Kaindl AM.

Gene. 2013 Jan 10;512(2):453-5. doi: 10.1016/j.gene.2012.10.061. Epub 2012 Nov 1.

PMID:
23124039
8.

Electroclinical diagnosis of Angelman syndrome: a study of 7 cases.

Casara GL, Vecchi M, Boniver C, Drigo P, Baccichetti C, Artifoni L, Franzoni E, Marchiani V.

Brain Dev. 1995 Jan-Feb;17(1):64-8.

PMID:
7762767
9.

[Anesthesia and Angelman syndrome].

Witte W, Nobel C, Hilpert J.

Anaesthesist. 2011 Jul;60(7):633-40. doi: 10.1007/s00101-011-1873-4. Epub 2011 Mar 16. Review. German.

PMID:
21424308
10.

Angelman syndrome: is there a characteristic EEG?

Laan LA, Vein AA.

Brain Dev. 2005 Mar;27(2):80-7. Review.

PMID:
15668045
11.

Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling.

Moncla A, Malzac P, Livet MO, Voelckel MA, Mancini J, Delaroziere JC, Philip N, Mattei JF.

J Med Genet. 1999 Jul;36(7):554-60.

12.

Distinct phenotypes distinguish the molecular classes of Angelman syndrome.

Lossie AC, Whitney MM, Amidon D, Dong HJ, Chen P, Theriaque D, Hutson A, Nicholls RD, Zori RT, Williams CA, Driscoll DJ.

J Med Genet. 2001 Dec;38(12):834-45.

13.

Angelman syndrome: review of clinical and molecular aspects.

Bird LM.

Appl Clin Genet. 2014 May 16;7:93-104. doi: 10.2147/TACG.S57386. eCollection 2014. Review.

14.

The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria.

Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB.

Pediatrics. 2001 Nov;108(5):E92.

PMID:
11694676
15.

Angelman syndrome due to a novel splicing mutation of the UBE3A gene.

Sartori S, Anesi L, Polli R, Toldo I, Casarin A, Drigo P, Murgia A.

J Child Neurol. 2008 Aug;23(8):912-5. doi: 10.1177/0883073808316367. Epub 2008 May 16.

PMID:
18487518
16.

Angelman syndrome presenting with a rare seizure type in a patient with 15q11.2 deletion: a case report.

Ranasinghe JC, Chandradasa D, Fernando S, Kodithuwakku U, Mandawala DE, Dissanayake VH.

J Med Case Rep. 2015 Jun 16;9:142. doi: 10.1186/s13256-015-0622-8.

17.

Angelman Syndrome: A Case Report.

Ashrafzadeh F, Sadrnabavi A, Akhondian J, Beiraghi Toosi M, Mohammadi M, Hassanpour K.

Iran J Child Neurol. 2016 Spring;10(2):86-9.

18.

Angelman syndrome in three biological siblings: Focusing on the neuropsychiatric domain.

Panda AK, Kar SK, Gopinath G.

J Pediatr Neurosci. 2013 Sep;8(3):213-6. doi: 10.4103/1817-1745.123674.

19.

[Epileptic seizures in Angelman syndrome].

Muñoz-Cabello B, Rufo-Campos M, Madruga-Garrido M, Blanco-Martínez B, Ruiz-Del Portal L, Candau Fernández-Mensaque R.

Rev Neurol. 2008 Aug 1-15;47(3):113-8. Spanish.

PMID:
18654963
20.

Angelman Syndrome: Identification and Management.

Bonello D, Camilleri F, Calleja-Agius J.

Neonatal Netw. 2017 May 1;36(3):142-151. doi: 10.1891/0730-0832.36.3.142.

PMID:
28494826

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