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Items: 1 to 20 of 114

1.
2.

The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.

Cho SY, Ki CS, Sohn YB, Maeng SH, Jung YJ, Kim SJ, Jin DK.

J Hum Genet. 2013 Mar;58(3):150-4. doi: 10.1038/jhg.2012.148. Epub 2013 Jan 10.

PMID:
23303386
3.

Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.

Izumi K, Santani AB, Deardorff MA, Feret HA, Tischler T, Thiel BD, Mulchandani S, Stolle CA, Spinner NB, Zackai EH, Conlin LK.

Am J Med Genet A. 2013 Jan;161A(1):166-71. doi: 10.1002/ajmg.a.35625. Epub 2012 Dec 7.

PMID:
23225330
4.

Genetic basis of Prader-Willi syndrome in Korea: less uniparental disomy than has been recognized?

Kim HJ, Cho HJ, Jin DK, Kwon EK, Ki CS, Kim JW, Kim SH.

Clin Genet. 2004 Oct;66(4):368-72. No abstract available.

PMID:
15355442
5.

Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors.

Matsubara K, Murakami N, Nagai T, Ogata T.

J Hum Genet. 2011 Aug;56(8):566-71. doi: 10.1038/jhg.2011.59. Epub 2011 Jun 2.

PMID:
21633360
6.

Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome.

Vogels A, Matthijs G, Legius E, Devriendt K, Fryns JP.

J Med Genet. 2003 Jan;40(1):72-3. No abstract available.

7.

The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

Mascari MJ, Gottlieb W, Rogan PK, Butler MG, Waller DA, Armour JA, Jeffreys AJ, Ladda RL, Nicholls RD.

N Engl J Med. 1992 Jun 11;326(24):1599-607.

8.

De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome.

Burrage LC, Person RE, Flores A, Villanos MT, Bi W, Wiszniewska J, Bacino CA.

Am J Med Genet A. 2012 Oct;158A(10):2557-63. doi: 10.1002/ajmg.a.35549. Epub 2012 Aug 17.

PMID:
22903639
9.

Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation.

Calounova G, Novotna D, Simandlova M, Havlovicova M, Zumrov√° A, Kocarek E, Sedlacek Z.

Neuro Endocrinol Lett. 2006 Oct;27(5):579-85.

PMID:
17159828
10.

[Maternal uniparental disomy 14; differential diagnosis with Prader-Willi syndrome].

Tamminga S, Stalman SE, Kamp GA, Hendriks YM, Knegt AC, Elting MW.

Ned Tijdschr Geneeskd. 2015;159:A8240. Dutch.

PMID:
25898865
11.

Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq.

Zeesman S, McCready E, Sadikovic B, Nowaczyk MJ.

Am J Med Genet A. 2015 Jan;167A(1):180-4. doi: 10.1002/ajmg.a.36790. Epub 2014 Oct 6.

PMID:
25287655
12.

Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy.

Boer H, Holland A, Whittington J, Butler J, Webb T, Clarke D.

Lancet. 2002 Jan 12;359(9301):135-6.

PMID:
11809260
13.

Complex rearrangements of chromosome 15 in two patients with mild/atypical Prader Willi syndrome.

Salavoura K, Kolialexi A, Sofocleous C, Kalaitzidaki M, Pampanos A, Kitsiou S, Mavrou A.

Genet Couns. 2008;19(2):219-24.

PMID:
18618997
14.

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
15.

Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15.

L'Herminé AC, Aboura A, Brisset S, Cuisset L, Castaigne V, Labrune P, Frydman R, Tachdjian G.

Prenat Diagn. 2003 Nov;23(11):938-43.

PMID:
14634983
16.

Mosaic paternally derived inv dup(15) may partially rescue the Prader-Willi syndrome phenotype with uniparental disomy.

Saitoh S, Hosoki K, Takano K, Tonoki H.

Clin Genet. 2007 Oct;72(4):378-80. No abstract available.

PMID:
17850637
17.

A twin sibling with Prader-Willi syndrome caused by uniparental disomy conceived after in vitro fertilization.

Atik T, Aykut A, Karaca E, Onay H, Ozkinay F, Cogulu O.

Genet Couns. 2014;25(4):433-7.

PMID:
25804024
18.
19.

Supernumerary marker 15 chromosome in a patient with Prader-Willi syndrome.

Borelina D, Esperante S, Gutnisky V, Ferreiro V, Ferrer M, Giliberto F, Frechtel G, Francipane L, Szijan I.

Clin Genet. 2004 Mar;65(3):242-3. No abstract available.

PMID:
14756675
20.

Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy.

Cassidy SB, Lai LW, Erickson RP, Magnuson L, Thomas E, Gendron R, Herrmann J.

Am J Hum Genet. 1992 Oct;51(4):701-8.

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