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Items: 1 to 20 of 336

1.

De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature.

Kitsiou-Tzeli S, Tzetis M, Sofocleous C, Vrettou C, Xaidara A, Giannikou K, Pampanos A, Mavrou A, Kanavakis E.

Am J Med Genet A. 2010 Aug;152A(8):1925-32. doi: 10.1002/ajmg.a.33447.

PMID:
20575009
2.

Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region.

Thomas NS, Browne CE, Oley C, Healey S, Crolla JA.

Hum Genet. 1999 Nov;105(5):384-7.

PMID:
10598802
3.

Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication.

Piard J, Philippe C, Marvier M, Beneteau C, Roth V, Valduga M, Béri M, Bonnet C, Grégoire MJ, Jonveaux P, Leheup B.

Am J Med Genet A. 2010 Aug;152A(8):1933-41. doi: 10.1002/ajmg.a.33521.

PMID:
20635369
4.

Characterisation of interstitial duplications and triplications of chromosome 15q11-q13.

Roberts SE, Dennis NR, Browne CE, Willatt L, Woods G, Cross I, Jacobs PA, Thomas S.

Hum Genet. 2002 Mar;110(3):227-34. Epub 2002 Feb 2.

PMID:
11935334
6.

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

Christian SL, Fantes JA, Mewborn SK, Huang B, Ledbetter DH.

Hum Mol Genet. 1999 Jun;8(6):1025-37.

PMID:
10332034
7.

Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements.

Sahoo T, Shaw CA, Young AS, Whitehouse NL, Schroer RJ, Stevenson RE, Beaudet AL.

Am J Med Genet A. 2005 Dec 1;139A(2):106-13.

PMID:
16284940
8.

Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader-Willi/Angelman syndrome critical region.

Aypar U, Brodersen PR, Lundquist PA, Dawson DB, Thorland EC, Hoppman N.

Am J Med Genet A. 2014 Oct;164A(10):2514-20. doi: 10.1002/ajmg.a.36663. Epub 2014 Jun 26.

PMID:
24975781
9.

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.

10.

Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders.

Isles AR, Ingason A, Lowther C, Walters J, Gawlick M, Stöber G, Rees E, Martin J, Little RB, Potter H, Georgieva L, Pizzo L, Ozaki N, Aleksic B, Kushima I, Ikeda M, Iwata N, Levinson DF, Gejman PV, Shi J, Sanders AR, Duan J, Willis J, Sisodiya S, Costain G, Werge TM, Degenhardt F, Giegling I, Rujescu D, Hreidarsson SJ, Saemundsen E, Ahn JW, Ogilvie C, Girirajan SD, Stefansson H, Stefansson K, O'Donovan MC, Owen MJ, Bassett A, Kirov G.

PLoS Genet. 2016 May 6;12(5):e1005993. doi: 10.1371/journal.pgen.1005993. eCollection 2016 May.

12.

Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization.

Repetto GM, White LM, Bader PJ, Johnson D, Knoll JH.

Am J Med Genet. 1998 Sep 1;79(2):82-9.

PMID:
9741464
13.
14.

Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication.

Orrico A, Zollino M, Galli L, Buoni S, Marangi G, Sorrentino V.

Am J Med Genet A. 2009 May;149A(5):1033-5. doi: 10.1002/ajmg.a.32785.

PMID:
19396834
15.

Partial hexasomy for the Prader-Willi-Angelman syndrome critical region due to a maternally inherited large supernumerary marker chromosome.

Hoppman-Chaney NL, Dawson DB, Nguyen L, Sengupta S, Reynolds K, McPherson E, Velagaleti G.

Am J Med Genet A. 2010 Aug;152A(8):2034-8. doi: 10.1002/ajmg.a.33483.

PMID:
20602489
16.

Rearrangements of chromosome 15 in epilepsy.

Torrisi L, Sangiorgi E, Russo L, Gurrieri F.

Am J Med Genet. 2001 Summer;106(2):125-8.

PMID:
11579432
17.

Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region.

Gabbett MT, Peters GB, Carmichael JM, Darmanian AP, Collins FA.

Clin Genet. 2008 Apr;73(4):353-9. doi: 10.1111/j.1399-0004.2007.00960.x. Epub 2008 Feb 13.

PMID:
18279435
18.

Double supernumerary isodicentric chromosomes derived from 15 resulting in partial hexasomy.

Qumsiyeh MB, Rafi SK, Sarri C, Grigoriadou M, Gyftodimou J, Pandelia E, Laskari H, Petersen MB.

Am J Med Genet A. 2003 Feb 1;116A(4):356-9.

PMID:
12522791
19.

A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect.

De Molfetta GA, Felix TM, Riegel M, Ferraz VE, de Pina Neto JM.

Arq Neuropsiquiatr. 2002 Dec;60(4):1011-4. Epub 2003 Jan 15.

20.

Prader-Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization.

Klein OD, Cotter PD, Albertson DG, Pinkel D, Tidyman WE, Moore MW, Rauen KA.

Clin Genet. 2004 Jun;65(6):477-82.

PMID:
15151506

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