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Items: 1 to 20 of 130

1.

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
2.

A case of mosaic supernumerary ring chromosome 15 with two copies of the segment 15p11.1-q14.

Zou YS, McGrann PS, Uphoff TS, Van Dyke DL.

Am J Med Genet A. 2006 Aug 1;140(15):1663-8.

PMID:
16830338
3.

Hexasomy of the Prader-Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: case report.

Kraoua L, Chaabouni M, Ewers E, Chelly I, Ouertani I, Ben Jemaa L, Maazoul F, Liehr T, Chaabouni H.

Eur J Med Genet. 2011 Jul-Aug;54(4):e446-50. doi: 10.1016/j.ejmg.2011.04.007. Epub 2011 May 6.

PMID:
21621018
4.

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
5.

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
6.

Genomic imprinting and human chromosome 15.

Repetto GM.

Biol Res. 2001;34(2):141-5. Review.

PMID:
11715207
8.
9.

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
10.

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
11.

Partial hexasomy of chromosome 15.

Huang B, Bartley J.

Am J Med Genet A. 2003 Sep 1;121A(3):277-80.

PMID:
12923871
12.

A patient with Prader-Willi syndrome and a supernumerary marker chromosome r(15)(q11.1-13p11.1)pat and maternal heterodisomy.

Werner M, Ben-Neriah Z, Silverstein S, Lerer I, Dagan Y, Abeliovich D.

Am J Med Genet A. 2004 Aug 30;129A(2):176-9.

PMID:
15316980
13.

A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype.

Maggouta F, Roberts SE, Dennis NR, Veltman MW, Crolla JA.

J Med Genet. 2003 Jul;40(7):e84. No abstract available.

14.

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

Buiting K, Dittrich B, Gross S, Lich C, Färber C, Buchholz T, Smith E, Reis A, Bürger J, Nöthen MM, Barth-Witte U, Janssen B, Abeliovich D, Lerer I, van den Ouweland AM, Halley DJ, Schrander-Stumpel C, Smeets H, Meinecke P, Malcolm S, Gardner A, Lalande M, Nicholls RD, Friend K, Schulze A, Matthijs G, Kokkonen H, Hilbert P, Van Maldergem L, Glover G, Carbonell P, Willems P, Gillessen-Kaesbach G, Horsthemke B.

Am J Hum Genet. 1998 Jul;63(1):170-80.

15.

FISH characterisation of dynamic mosaicism involving an inv dup(15) in a patient with mental retardation.

Cockwell AE, Dávalos IP, Rivera HR, Crolla JA.

Am J Med Genet. 2001 Nov 1;103(4):289-94.

PMID:
11746008
16.

Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes.

Glenn CC, Driscoll DJ, Yang TP, Nicholls RD.

Mol Hum Reprod. 1997 Apr;3(4):321-32. Review.

PMID:
9237260
17.
18.

Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method.

Zeschnigk M, Schmitz B, Dittrich B, Buiting K, Horsthemke B, Doerfler W.

Hum Mol Genet. 1997 Mar;6(3):387-95.

PMID:
9147641
19.

Prader-Willi and Angelman syndromes. Disorders of genomic imprinting.

Cassidy SB, Schwartz S.

Medicine (Baltimore). 1998 Mar;77(2):140-51. Review.

20.

Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10).

Erdel M, Schuffenhauer S, Buchholz B, Barth-Witte U, Köchl S, Utermann B, Duba HC, Utermann G.

Hum Genet. 1996 Jun;97(6):784-93.

PMID:
8641697

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