Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 313

1.

Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome.

Kubota T, Sutcliffe JS, Aradhya S, Gillessen-Kaesbach G, Christian SL, Horsthemke B, Beaudet AL, Ledbetter DH.

Am J Med Genet. 1996 Dec 2;66(1):77-80.

PMID:
8957518
2.

Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis.

Kubota T, Aradhya S, Macha M, Smith AC, Surh LC, Satish J, Verp MS, Nee HL, Johnson A, Christan SL, Ledbetter DH.

J Med Genet. 1996 Dec;33(12):1011-4.

3.
4.

Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.

Saitoh S, Buiting K, Cassidy SB, Conroy JM, Driscoll DJ, Gabriel JM, Gillessen-Kaesbach G, Glenn CC, Greenswag LR, Horsthemke B, Kondo I, Kuwajima K, Niikawa N, Rogan PK, Schwartz S, Seip J, Williams CA, Nicholls RD.

Am J Med Genet. 1997 Jan 20;68(2):195-206.

PMID:
9028458
5.
6.
7.

A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes.

Chotai KA, Payne SJ.

J Med Genet. 1998 Jun;35(6):472-5. Erratum in: J Med Genet 2000 May;37(5):399.

8.

Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint.

Schulze A, Hansen C, Skakkebaek NE, Brøndum-Nielsen K, Ledbeter DH, Tommerup N.

Nat Genet. 1996 Apr;12(4):452-4.

PMID:
8630505
9.

Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications.

Buiting K, Dittrich B, Robinson WP, Guitart M, Abeliovich D, Lerer I, Horsthemke B.

Hum Mol Genet. 1994 Jun;3(6):893-5. Erratum in: Hum Mol Genet 1994 Nov;3(11):2092.

PMID:
7951232
11.

A molecular and cytogenetic study in Finnish Prader-Willi patients.

Kokkonen H, Kähkönen M, Leisti J.

Hum Genet. 1995 May;95(5):568-71.

PMID:
7759080
12.

DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting.

Glenn CC, Deng G, Michaelis RC, Tarleton J, Phelan MC, Surh L, Yang TP, Driscoll DJ.

Prenat Diagn. 2000 Apr;20(4):300-6.

PMID:
10740202
13.

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
14.

Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.

Glenn CC, Saitoh S, Jong MT, Filbrandt MM, Surti U, Driscoll DJ, Nicholls RD.

Am J Hum Genet. 1996 Feb;58(2):335-46.

16.
17.

DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63).

van den Ouweland AM, van der Est MN, Wesby-van Swaay E, Tijmensen TS, Los FJ, Van Hemel JO, Hennekam RC, Meijers-Heijboer HJ, Niermeijer MF, Halley DJ.

Hum Genet. 1995 May;95(5):562-7.

PMID:
7759079
18.

Clonal heterogeneity at allelic methylation sites diagnostic for Prader-Willi and Angelman syndromes.

LaSalle JM, Ritchie RJ, Glatt H, Lalande M.

Proc Natl Acad Sci U S A. 1998 Feb 17;95(4):1675-80.

19.

The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria.

Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB.

Pediatrics. 2001 Nov;108(5):E92.

PMID:
11694676
20.

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.

Items per page

Supplemental Content

Write to the Help Desk