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Items: 1 to 20 of 97

1.

Tetrasomy 15q11-q13 diagnosed by FISH in a patient with autistic disorder.

Ouldim K, Natiq A, Jonveaux P, Sefiani A.

J Biomed Biotechnol. 2007;2007(3):61538. Epub 2007 Mar 20.

2.

Trisomy and tetrasomy 15q11-q13 diagnosed by molecular cytogenetic analysis in two patients with mental retardation.

Bouhjar IB, Gmidène A, Soyah N, Hanene H, Mougou S, Elghezal H, Saad A.

J Pediatr Genet. 2012 Mar;1(1):63-8. doi: 10.3233/PGE-2012-012.

3.

Tetrasomy 15q11-q13 identified by fluorescence in situ hybridization in a patient with autistic disorder.

Silva AE, Vayego-Lourenco SA, Fett-Conte AC, Goloni-Bertollo EM, Varella-Garcia M.

Arq Neuropsiquiatr. 2002 Jun;60(2-A):290-4.

4.

15q Duplication Syndrome and Related Disorders.

Finucane BM, Lusk L, Arkilo D, Chamberlain S, Devinsky O, Dindot S, Jeste SS, LaSalle JM, Reiter LT, Schanen NC, Spence SJ, Thibert RL, Calvert G, Luchsinger K, Cook EH.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2016 Jun 16.

5.

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
6.

Duplication of the 15q11-13 region in a patient with autism, epilepsy and ataxia.

Bundey S, Hardy C, Vickers S, Kilpatrick MW, Corbett JA.

Dev Med Child Neurol. 1994 Aug;36(8):736-42.

PMID:
8050626
7.

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.

8.

Proximal 15q familial euchromatic variant and PWS/AS critical region duplication in the same patient: a cytogenetic pitfall.

Carelle-Calmels N, Girard-Lemaire F, Guérin E, Bieth E, Rudolf G, Biancalana V, Pecheur H, Demil H, Schneider T, de Saint-Martin A, Caron O, Legrain M, Gaston V, Flori E.

Eur J Med Genet. 2008 Nov-Dec;51(6):547-57. doi: 10.1016/j.ejmg.2008.07.003. Epub 2008 Jul 22.

PMID:
18692163
9.

Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: clinical report and review of the literature.

Castronovo C, Crippa M, Bestetti I, Rusconi D, Russo S, Larizza L, Sangermani R, Bonati MT, Finelli P.

Am J Med Genet A. 2015 Jan;167A(1):221-30. doi: 10.1002/ajmg.a.36815. Epub 2014 Oct 22. Review.

PMID:
25339188
10.

Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome.

Meguro-Horike M, Yasui DH, Powell W, Schroeder DI, Oshimura M, Lasalle JM, Horike S.

Hum Mol Genet. 2011 Oct 1;20(19):3798-810. doi: 10.1093/hmg/ddr298. Epub 2011 Jul 1.

11.

Clinical, cytogenetic, and molecular analyses of prenatally diagnosed mosaic tetrasomy for distal chromosome 15q and review of the literature.

Chen CP, Lin CC, Li YC, Chern SR, Lee CC, Chen WL, Lee MS, Wang W, Tzen CY.

Prenat Diagn. 2004 Oct;24(10):767-73. Review.

PMID:
15503270
12.

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
13.

[Case reports of patients with a marker chromosome].

Kocárek E, Novotná D, Maríková T, Cernáková I, Losan F, Balícek P, Baxová A, Havlovicová M, Goetz P.

Cas Lek Cesk. 2004;143(10):708-11; discussion 711-2. Czech.

PMID:
15584624
14.

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
15.

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.

16.

The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder.

Battaglia A.

Brain Dev. 2005 Aug;27(5):365-9. Epub 2005 Apr 22. Review.

PMID:
16023554
17.

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.

18.

Tetrasomy 15q25.2→qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation.

George-Abraham JK, Zimmerman SL, Hinton RB, Marino BS, Witte DP, Hopkin RJ.

Am J Med Genet A. 2012 Aug;158A(8):1971-6. doi: 10.1002/ajmg.a.35428. Epub 2012 Jun 18.

PMID:
22711292
19.

Partial tetrasomy of chromosome 3q and mosaicism in a child with autism.

Oliveira G, Matoso E, Vicente A, Ribeiro P, Marques C, Ataíde A, Miguel T, Saraiva J, Carreira I.

J Autism Dev Disord. 2003 Apr;33(2):177-85.

PMID:
12757357
20.

Intrachromosomal triplication of 15q11-q13.

Schinzel AA, Brecevic L, Bernasconi F, Binkert F, Berthet F, Wuilloud A, Robinson WP.

J Med Genet. 1994 Oct;31(10):798-803.

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