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Items: 1 to 20 of 39

1.

MLPA analysis in a cohort of patients with autism.

Peixoto S, Melo JB, Ferrão J, Pires LM, Lavoura N, Pinto M, Oliveira G, Carreira IM.

Mol Cytogenet. 2017 Feb 4;10:2. doi: 10.1186/s13039-017-0302-z. eCollection 2017.

2.

A Rare Inherited 15q11.2-q13.1 Interstitial Duplication with Maternal Somatic Mosaicism, Renal Carcinoma, and Autism.

Urraca N, Potter B, Hundley R, Pivnick EK, McVicar K, Thibert RL, Ledbetter C, Chamberlain R, Miravalle L, Sirois CL, Chamberlain S, Reiter LT.

Front Genet. 2016 Nov 25;7:205. eCollection 2016.

3.

Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes.

Kalsner L, Chamberlain SJ.

Pediatr Clin North Am. 2015 Jun;62(3):587-606. doi: 10.1016/j.pcl.2015.03.004. Epub 2015 Apr 22. Review.

4.

Dendritic spine dysgenesis in autism related disorders.

Phillips M, Pozzo-Miller L.

Neurosci Lett. 2015 Aug 5;601:30-40. doi: 10.1016/j.neulet.2015.01.011. Epub 2015 Jan 8. Review.

5.

Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern.

Tan ES, Yong MH, Lim EC, Li ZH, Brett MS, Tan EC.

Mol Cytogenet. 2014 May 16;7:32. doi: 10.1186/1755-8166-7-32. eCollection 2014.

6.

CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome.

Abekhoukh S, Bardoni B.

Front Cell Neurosci. 2014 Mar 27;8:81. doi: 10.3389/fncel.2014.00081. eCollection 2014. Review.

7.

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.

8.
9.

Animal models of psychiatric disorders that reflect human copy number variation.

Nomura J, Takumi T.

Neural Plast. 2012;2012:589524. doi: 10.1155/2012/589524. Epub 2012 Jul 30. Review.

10.

Three supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features.

Hu J, Madan-Khetarpal S, Serrano Russi AH, Kochmar S, Deward SJ, Sathanoori M, Surti U.

Genet Res Int. 2011;2011:185271. doi: 10.4061/2011/185271. Epub 2011 Jul 17.

11.

Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader-Willi syndrome.

Flores CG, Valcante G, Guter S, Zaytoun A, Wray E, Bell L, Jacob S, Lewis MH, Driscoll DJ, Cook EH Jr, Kim SJ.

J Neurodev Disord. 2011 Dec;3(4):316-24. doi: 10.1007/s11689-011-9094-3. Epub 2011 Sep 1.

12.

The neurobiology of mouse models syntenic to human chromosome 15q.

Takumi T.

J Neurodev Disord. 2011 Sep;3(3):270-81. doi: 10.1007/s11689-011-9088-1. Epub 2011 Jul 26.

13.

Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes.

Mabb AM, Judson MC, Zylka MJ, Philpot BD.

Trends Neurosci. 2011 Jun;34(6):293-303. doi: 10.1016/j.tins.2011.04.001. Epub 2011 May 17. Review.

14.

The pathophysiology of restricted repetitive behavior.

Lewis M, Kim SJ.

J Neurodev Disord. 2009 Jun;1(2):114-32. doi: 10.1007/s11689-009-9019-6. Epub 2009 Jun 16.

15.

Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy.

Manolakos E, Sarri C, Vetro A, Kefalas K, Leze E, Sofocleus C, Kitsos G, Merou K, Kokotas H, Papadopoulou A, Attilakos A, Petersen MB, Kitsiou-Tzeli S.

Mol Cytogenet. 2011 Feb 23;4(1):6. doi: 10.1186/1755-8166-4-6.

16.

Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness.

Ingason A, Kirov G, Giegling I, Hansen T, Isles AR, Jakobsen KD, Kristinsson KT, le Roux L, Gustafsson O, Craddock N, Möller HJ, McQuillin A, Muglia P, Cichon S, Rietschel M, Ophoff RA, Djurovic S, Andreassen OA, Pietiläinen OP, Peltonen L, Dempster E, Collier DA, St Clair D, Rasmussen HB, Glenthøj BY, Kiemeney LA, Franke B, Tosato S, Bonetto C, Saemundsen E, Hreidarsson SJ; GROUP Investigators., Nöthen MM, Gurling H, O'Donovan MC, Owen MJ, Sigurdsson E, Petursson H, Stefansson H, Rujescu D, Stefansson K, Werge T.

Am J Psychiatry. 2011 Apr;168(4):408-17. doi: 10.1176/appi.ajp.2010.09111660. Epub 2011 Feb 15.

17.

Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma.

Raca G, Jackson CA, Kucinskas L, Warman B, Shieh JT, Schneider A, Bardakjian TM, Schimmenti LA.

Genet Med. 2011 May;13(5):437-42. doi: 10.1097/GIM.0b013e318204cfd2.

18.

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q).

Battaglia A.

Orphanet J Rare Dis. 2008 Nov 19;3:30. doi: 10.1186/1750-1172-3-30. Review.

19.

The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13.

Hogart A, Wu D, LaSalle JM, Schanen NC.

Neurobiol Dis. 2010 May;38(2):181-91. doi: 10.1016/j.nbd.2008.08.011. Epub 2008 Sep 18. Review.

20.

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.

Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff R, Yusupov R, Gusella JF, Daly MJ, Wu BL.

J Med Genet. 2009 Apr;46(4):242-8. doi: 10.1136/jmg.2008.059907. Epub 2008 Sep 19.

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