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Results: 11

1.

The link between intraneuronal N-truncated amyloid-β peptide and oxidatively modified lipids in idiopathic autism and dup(15q11.2-q13)/autism.

Frackowiak J, Mazur-Kolecka B, Schanen NC, Brown WT, Wegiel J.

Acta Neuropathol Commun. 2013 Sep 16;1(1):61. doi: 10.1186/2051-5960-1-61.

2.

Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies.

Jähn JA, von Spiczak S, Muhle H, Obermeier T, Franke A, Mefford HC, Stephani U, Helbig I.

Epilepsy Res. 2014 Jan;108(1):109-16. doi: 10.1016/j.eplepsyres.2013.10.001. Epub 2013 Oct 26.

PMID:
24246141
3.

Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases.

Al Ageeli E, Drunat S, Delanoë C, Perrin L, Baumann C, Capri Y, Fabre-Teste J, Aboura A, Dupont C, Auvin S, El Khattabi L, Chantereau D, Moncla A, Tabet AC, Verloes A.

Eur J Med Genet. 2014 Jan;57(1):5-14. doi: 10.1016/j.ejmg.2013.10.008. Epub 2013 Nov 12.

PMID:
24239951
4.

Neurological features and long-term follow-up in 15q11.2-13.1 duplication.

Coppola A, Ruosi P, Santulli L, Striano S, Zara F, Striano P, Sisodiya SM.

Eur J Med Genet. 2013 Nov;56(11):614-8. doi: 10.1016/j.ejmg.2013.08.008. Epub 2013 Sep 25.

PMID:
24075935
5.

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability.

Mullen SA, Carvill GL, Bellows S, Bayly MA, Trucks H, Lal D, Sander T, Berkovic SF, Dibbens LM, Scheffer IE, Mefford HC.

Neurology. 2013 Oct 22;81(17):1507-14. doi: 10.1212/WNL.0b013e3182a95829. Epub 2013 Sep 25. Review. Erratum in: Neurology. 2013 Dec 10;81(24):2148. Trucks, Holger [added]; Lal, Dennis [added]; Sander, Thoman [added].

6.

The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature.

Urraca N, Cleary J, Brewer V, Pivnick EK, McVicar K, Thibert RL, Schanen NC, Esmer C, Lamport D, Reiter LT.

Autism Res. 2013 Aug;6(4):268-79. doi: 10.1002/aur.1284. Epub 2013 Mar 14.

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.

15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism.

Madrigal I, Rodríguez-Revenga L, Xunclà M, Milà M.

Gene. 2012 Oct 15;508(1):92-5. doi: 10.1016/j.gene.2012.07.023. Epub 2012 Jul 25.

PMID:
22842191
9.

NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy.

Jiang Y, Zhang Y, Zhang P, Sang T, Zhang F, Ji T, Huang Q, Xie H, Du R, Cai B, Zhao H, Wang J, Wu Y, Wu H, Xu K, Liu X, Chan P, Wu X.

Hum Genet. 2012 Jul;131(7):1217-24. doi: 10.1007/s00439-012-1149-3. Epub 2012 Feb 26.

PMID:
22367439
10.

[15Q11.2 (BP1-BP2) microdeletion, a new syndrome with variable expressivity].

Sempere Pérez A, Manchón Trives I, Palazón Azorín I, Alcaraz Más L, Pérez Lledó E, Galán Sánchez F.

An Pediatr (Barc). 2011 Jul;75(1):58-62. doi: 10.1016/j.anpedi.2011.01.033. Epub 2011 Mar 17. Spanish.

11.

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.

Doornbos M, Sikkema-Raddatz B, Ruijvenkamp CA, Dijkhuizen T, Bijlsma EK, Gijsbers AC, Hilhorst-Hofstee Y, Hordijk R, Verbruggen KT, Kerstjens-Frederikse WS, van Essen T, Kok K, van Silfhout AT, Breuning M, van Ravenswaaij-Arts CM.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):108-15. doi: 10.1016/j.ejmg.2009.03.010. Epub 2009 Mar 27.

PMID:
19328872
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