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Items: 1 to 20 of 54

1.

PCR-generated padlock probes distinguish homologous chromosomes through quantitative fluorescence analysis.

Antson DO, Mendel-Hartvig M, Landegren U, Nilsson M.

Eur J Hum Genet. 2003 May;11(5):357-63.

2.

Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases.

Eggermann K, Mau UA, Bujdosó G, Koltai E, Engels H, Schubert R, Eggermann T, Raff R, Schwanitz G.

Clin Genet. 2002 Jul;62(1):89-93.

PMID:
12123494
3.

Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q.

Fantes JA, Mewborn SK, Lese CM, Hedrick J, Brown RL, Dyomin V, Chaganti RS, Christian SL, Ledbetter DH.

J Med Genet. 2002 Mar;39(3):170-7.

4.

A patient with a supernumerary marker chromosome (15), Angelman syndrome, and uniparental disomy resulting from paternal meiosis II non-disjunction.

Roberts S, Maggouta F, Thompson R, Price S, Thomas S.

J Med Genet. 2002 Feb;39(2):E9. No abstract available.

5.

Severe phenotype in Angelman syndrome resulting from paternal isochromosome 15.

Poyatos D, Guitart M, Gabau E, Brun C, Mila M, Vaquerizo J, Coll MD.

J Med Genet. 2002 Feb;39(2):E4. No abstract available.

6.

Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 in a boy with a balanced 3;21 translocation.

Bassett LL, Michaelis RC, Geiger MH, Tarleton J, Moore CL, Knops JF, Carroll AJ, Proud VK.

Am J Med Genet. 2001 Apr 15;100(1):85-6. No abstract available.

PMID:
11337756
7.

Prader-Willi syndrome.

Couper RT, Couper JJ.

Lancet. 2000 Aug 19;356(9230):673-5. No abstract available.

PMID:
10968453
8.

Third Prader-Willi syndrome phenotype due to maternal uniparental disomy 15 with mosaic trisomy 15.

Olander E, Stamberg J, Steinberg L, Wulfsberg EA.

Am J Med Genet. 2000 Jul 31;93(3):215-8.

PMID:
10925385
9.

Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients.

Fridman C, Varela MC, Kok F, Diament A, Koiffmann CP.

Am J Med Genet. 2000 Jun 19;92(5):322-7.

PMID:
10861661
10.

Unexpected Angelman syndrome molecular defect in a girl displaying clinical features of Prader-Willi syndrome.

Dupont JM, Le Tessier D, Rabineau D, Cuisset L, Vasseur C, Jeanpierre M, Delpech M, Pinton F, Ponsot G, Denavit MF.

J Med Genet. 1999 Aug;36(8):652-4. No abstract available.

11.

Relaxation of imprinting in Prader-Willi syndrome.

Rogan PK, Seip JR, White LM, Wenger SL, Steele MW, Sperling MA, Menon R, Knoll JH.

Hum Genet. 1998 Dec;103(6):694-701.

PMID:
9921905
12.

Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q.

Fridman C, Varela MC, Nicholls RD, Koiffmann CP.

Clin Genet. 1998 Oct;54(4):303-8.

PMID:
9831341
13.

Normal growth in Angelman syndrome due to paternal UPD.

Smith A, Robson L, Buchholz B.

Clin Genet. 1998 Mar;53(3):223-5.

PMID:
9630080
14.

Familial supernumerary marker chromosome evolution through three generations.

Adhvaryu SG, Peters-Brown T, Livingston E, Qumsiyeh MB.

Prenat Diagn. 1998 Feb;18(2):178-81.

PMID:
9516020
15.

Genotype and phenotype in Angelman syndrome caused by paternal UPD 15.

Prasad C, Wagstaff J.

Am J Med Genet. 1997 Jun 13;70(3):328-9. No abstract available.

PMID:
9188675
16.
17.

Robertsonian (15q;15q) translocation in a child with Angelman syndrome: evidence of uniparental disomy.

Tonk V, Schultz RA, Christian SL, Kubota T, Ledbetter DH, Wilson GN.

Am J Med Genet. 1996 Dec 30;66(4):426-8.

PMID:
8989460
18.

FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients.

Bettio D, Rizzi N, Giardino D, Gurrieri F, Silvestri G, Grugni G, Larizza L.

Am J Med Genet. 1997 Jan 10;68(1):99-104.

PMID:
8986287
19.

Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism.

Christian SL, Smith AC, Macha M, Black SH, Elder FF, Johnson JM, Resta RG, Surti U, Suslak L, Verp MS, Ledbetter DH.

Prenat Diagn. 1996 Apr;16(4):323-32.

PMID:
8734806
20.

Efficient identification of marker chromosomes in 27 patients by stepwise hybridization with alpha-satellite DNA probes.

Plattner R, Heerema NA, Yurov YB, Palmer CG.

Hum Genet. 1993 Mar;91(2):131-40.

PMID:
8462972

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