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Results: 1 to 20 of 106

1.

Differences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism.

Wegiel J, Schanen NC, Cook EH, Sigman M, Brown WT, Kuchna I, Nowicki K, Wegiel J, Imaki H, Ma SY, Marchi E, Wierzba-Bobrowicz T, Chauhan A, Chauhan V, Cohen IL, London E, Flory M, Lach B, Wisniewski T.

J Neuropathol Exp Neurol. 2012 May;71(5):382-97. doi: 10.1097/NEN.0b013e318251f537.

PMID:
22487857
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.

Kwasnicka-Crawford DA, Roberts W, Scherer SW.

J Autism Dev Disord. 2007 Apr;37(4):694-702.

PMID:
17006779
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
23495136
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.

Depienne C, Moreno-De-Luca D, Heron D, Bouteiller D, Gennetier A, Delorme R, Chaste P, Siffroi JP, Chantot-Bastaraud S, Benyahia B, Trouillard O, Nygren G, Kopp S, Johansson M, Rastam M, Burglen L, Leguern E, Verloes A, Leboyer M, Brice A, Gillberg C, Betancur C.

Biol Psychiatry. 2009 Aug 15;66(4):349-59. doi: 10.1016/j.biopsych.2009.01.025. Epub 2009 Mar 17.

PMID:
19278672
[PubMed - indexed for MEDLINE]
5.

Routine cytogenetic and FISH studies for 17p11/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders.

Keller K, Williams C, Wharton P, Paulk M, Bent-Williams A, Gray B, Ward A, Stalker H, Wallace M, Carter R, Zori R.

Am J Med Genet A. 2003 Mar 1;117A(2):105-11.

PMID:
12567405
[PubMed - indexed for MEDLINE]
6.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
[PubMed - indexed for MEDLINE]
7.

Abnormal intracellular accumulation and extracellular Aβ deposition in idiopathic and Dup15q11.2-q13 autism spectrum disorders.

Wegiel J, Frackowiak J, Mazur-Kolecka B, Schanen NC, Cook EH Jr, Sigman M, Brown WT, Kuchna I, Wegiel J, Nowicki K, Imaki H, Ma SY, Chauhan A, Chauhan V, Miller DL, Mehta PD, Flory M, Cohen IL, London E, Reisberg B, de Leon MJ, Wisniewski T.

PLoS One. 2012;7(5):e35414. doi: 10.1371/journal.pone.0035414. Epub 2012 May 2.

PMID:
22567102
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes.

Wegiel J, Kuchna I, Nowicki K, Imaki H, Wegiel J, Marchi E, Ma SY, Chauhan A, Chauhan V, Bobrowicz TW, de Leon M, Louis LA, Cohen IL, London E, Brown WT, Wisniewski T.

Acta Neuropathol. 2010 Jun;119(6):755-70. doi: 10.1007/s00401-010-0655-4. Epub 2010 Mar 3.

PMID:
20198484
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders.

Bolton PF, Veltman MW, Weisblatt E, Holmes JR, Thomas NS, Youings SA, Thompson RJ, Roberts SE, Dennis NR, Browne CE, Goodson S, Moore V, Brown J.

Psychiatr Genet. 2004 Sep;14(3):131-7.

PMID:
15318025
[PubMed - indexed for MEDLINE]
10.

Autism or atypical autism in maternally but not paternally derived proximal 15q duplication.

Cook EH Jr, Lindgren V, Leventhal BL, Courchesne R, Lincoln A, Shulman C, Lord C, Courchesne E.

Am J Hum Genet. 1997 Apr;60(4):928-34.

PMID:
9106540
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Hypomelanosis of Ito in three cases with autism and autistic-like conditions.

Akefeldt A, Gillberg C.

Dev Med Child Neurol. 1991 Aug;33(8):737-43.

PMID:
1717328
[PubMed - indexed for MEDLINE]
12.

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.

Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR.

J Med Genet. 2010 May;47(5):332-41. doi: 10.1136/jmg.2009.073015. Epub 2009 Nov 12.

PMID:
19914906
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Maternal origin of inv dup(15) chromosomes in infantile autism.

Martinsson T, Johannesson T, Vujic M, Sjöstedt A, Steffenburg S, Gillberg C, Wahlström J.

Eur Child Adolesc Psychiatry. 1996 Dec;5(4):185-92.

PMID:
8989557
[PubMed - indexed for MEDLINE]
14.

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.

Burnside RD, Pasion R, Mikhail FM, Carroll AJ, Robin NH, Youngs EL, Gadi IK, Keitges E, Jaswaney VL, Papenhausen PR, Potluri VR, Risheg H, Rush B, Smith JL, Schwartz S, Tepperberg JH, Butler MG.

Hum Genet. 2011 Oct;130(4):517-28. doi: 10.1007/s00439-011-0970-4. Epub 2011 Feb 27.

PMID:
21359847
[PubMed - indexed for MEDLINE]
15.

15q duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH.

Koochek M, Harvard C, Hildebrand MJ, Van Allen M, Wingert H, Mickelson E, Holden JJ, Rajcan-Separovic E, Lewis ME.

Clin Genet. 2006 Feb;69(2):124-34.

PMID:
16433693
[PubMed - indexed for MEDLINE]
16.

Autism spectrum disorder, Klinefelter syndrome, and chromosome 3p21.31 duplication: a case report.

Stuart SW, King CH, Pai GS.

MedGenMed. 2007 Dec 18;9(4):60.

PMID:
18311409
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

MRI-based morphometry in children with multiple complex developmental disorder, a phenotypically defined subtype of pervasive developmental disorder not otherwise specified.

Lahuis BE, Durston S, Nederveen H, Zeegers M, Palmen SJ, Van Engeland H.

Psychol Med. 2008 Sep;38(9):1361-7. Epub 2007 Sep 10.

PMID:
17825125
[PubMed - indexed for MEDLINE]
18.

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.

PMID:
24252310
[PubMed - in process]
Free PMC Article
19.

A case report of two male siblings with autism and duplication of Xq13-q21, a region including three genes predisposing for autism.

Wentz E, Vujic M, Kärrstedt EL, Erlandsson A, Gillberg C.

Eur Child Adolesc Psychiatry. 2014 May;23(5):329-36. doi: 10.1007/s00787-013-0455-1. Epub 2013 Aug 23.

PMID:
23974867
[PubMed - indexed for MEDLINE]
20.

Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11-q13.

Spinner NB, Zackai E, Cheng SD, Knoll JH.

Am J Med Genet. 1995 May 22;57(1):61-5.

PMID:
7645601
[PubMed - indexed for MEDLINE]
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