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Items: 1 to 20 of 186

1.

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.

Knoll JH, Nicholls RD, Magenis RE, Graham JM Jr, Lalande M, Latt SA.

Am J Med Genet. 1989 Feb;32(2):285-90.

PMID:
2564739
2.

Molecular and clinical overlap of Angelman and Prader-Willi syndrome phenotypes.

Kirkilionis AJ, Chudley AE, Gregory CA, Hamerton JL.

Am J Med Genet. 1991 Sep 15;40(4):454-9.

PMID:
1684091
3.

Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

Nicholls RD, Knoll JH, Butler MG, Karam S, Lalande M.

Nature. 1989 Nov 16;342(6247):281-5.

PMID:
2812027
4.

Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences.

Magenis RE, Toth-Fejel S, Allen LJ, Black M, Brown MG, Budden S, Cohen R, Friedman JM, Kalousek D, Zonana J, et al.

Am J Med Genet. 1990 Mar;35(3):333-49.

PMID:
2309780
5.

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
6.

DNA deletion and its parental origin in Angelman syndrome patients.

Hamabe J, Kuroki Y, Imaizumi K, Sugimoto T, Fukushima Y, Yamaguchi A, Izumikawa Y, Niikawa N.

Am J Med Genet. 1991 Oct 1;41(1):64-8.

PMID:
1683160
7.
8.

Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.

Christian SL, Robinson WP, Huang B, Mutirangura A, Line MR, Nakao M, Surti U, Chakravarti A, Ledbetter DH.

Am J Hum Genet. 1995 Jul;57(1):40-8.

9.

A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes.

Driscoll DJ, Waters MF, Williams CA, Zori RT, Glenn CC, Avidano KM, Nicholls RD.

Genomics. 1992 Aug;13(4):917-24.

PMID:
1505981
10.

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
11.

Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome.

Nicholls RD, Knoll JH, Glatt K, Hersh JH, Brewster TD, Graham JM Jr, Wurster-Hill D, Wharton R, Latt SA.

Am J Med Genet. 1989 May;33(1):66-77.

PMID:
2568752
12.

Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.

Robinson WP, Bottani A, Xie YG, Balakrishman J, Binkert F, Mächler M, Prader A, Schinzel A.

Am J Hum Genet. 1991 Dec;49(6):1219-34.

13.

Cytogenetic and molecular studies in the Prader-Willi and Angelman syndromes: an overview.

Knoll JH, Wagstaff J, Lalande M.

Am J Med Genet. 1993 Apr 1;46(1):2-6. Review.

PMID:
8388170
14.

Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting.

Williams CA, Zori RT, Stone JW, Gray BA, Cantu ES, Ostrer H.

Am J Med Genet. 1990 Mar;35(3):350-3.

PMID:
2309781
15.

Prader-Willi syndrome: diagnostic strategy with a cytogenetic and molecular approach.

Malzac P, Moncla A, Voelckel MA, Livet MO, Girardot L, Mattei MG, Mattei JF.

Neuromuscul Disord. 1993 Sep-Nov;3(5-6):493-6.

PMID:
7910502
16.

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.

17.

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.

18.

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis.

Kuwano A, Mutirangura A, Dittrich B, Buiting K, Horsthemke B, Saitoh S, Niikawa N, Ledbetter SA, Greenberg F, Chinault AC, et al.

Hum Mol Genet. 1992 Sep;1(6):417-25. Erratum in: Hum Mol Genet 1992 Dec;1(9):784.

PMID:
1363801
19.

Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.

Mutirangura A, Greenberg F, Butler MG, Malcolm S, Nicholls RD, Chakravarti A, Ledbetter DH.

Hum Mol Genet. 1993 Feb;2(2):143-51.

PMID:
8499903
20.

Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome.

Nicholls RD, Pai GS, Gottlieb W, Cantú ES.

Ann Neurol. 1992 Oct;32(4):512-8.

PMID:
1360787

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