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Items: 1 to 20 of 247

1.

Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics.

Rooms L, Reyniers E, Wuyts W, Storm K, van Luijk R, Scheers S, Wauters J, van den Ende J, Biervliet M, Eyskens F, van Goethem G, Laridon A, Ceulemans B, Courtens W, Kooy RF.

Clin Genet. 2006 Jan;69(1):58-64.

PMID:
16451137
2.

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).

Koolen DA, Nillesen WM, Versteeg MH, Merkx GF, Knoers NV, Kets M, Vermeer S, van Ravenswaaij CM, de Kovel CG, Brunner HG, Smeets D, de Vries BB, Sistermans EA.

J Med Genet. 2004 Dec;41(12):892-9.

3.

Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA).

Rooms L, Reyniers E, van Luijk R, Scheers S, Wauters J, Ceulemans B, Van Den Ende J, Van Bever Y, Kooy RF.

Hum Mutat. 2004 Jan;23(1):17-21.

PMID:
14695528
4.

MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation.

Palomares M, Delicado A, Lapunzina P, Arjona D, Amiñoso C, Arcas J, Martinez Bermejo A, Fernández L, López Pajares I.

Clin Genet. 2006 Mar;69(3):228-33.

PMID:
16542387
5.
6.

[Detection of the genetic abnormalities in patients with mental retardation using multiplex ligation-dependent probe amplification assay].

Zhu L, Wang C, Yang X, Wang Y, Liu X, He X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Dec;26(6):644-7. doi: 10.3760/cma.j.issn.1003-9406.2009.06.008. Chinese.

PMID:
19953486
7.

Subtelomeric rearrangements of dysmorphic children with idiopathic mental retardation reveal 8 different chromosomal anomalies.

Mihçi E, Ozcan M, Berker-Karaüzüm S, Keser I, Taçoy S, Hapsolat S, Lüleci G.

Turk J Pediatr. 2009 Sep-Oct;51(5):453-9.

PMID:
20112600
8.

Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements.

Monfort S, Orellana C, Oltra S, Roselló M, Guitart M, Martínez F.

J Lab Clin Med. 2006 Jun;147(6):295-300.

PMID:
16750667
9.

Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.

Caliskan MO, Karauzum SB, Mihci E, Tacoy S, Luleci G.

Genet Couns. 2005;16(2):129-38.

PMID:
16080292
10.

Subtelomeric rearrangements in the mentally retarded: a comparison of detection methods.

Rooms L, Reyniers E, Kooy RF.

Hum Mutat. 2005 Jun;25(6):513-24. Review.

PMID:
15880643
11.

Subtelomeric rearrangements detected in patients with idiopathic mental retardation.

Anderlid BM, Schoumans J, Annerén G, Sahlén S, Kyllerman M, Vujic M, Hagberg B, Blennow E, Nordenskjöld M.

Am J Med Genet. 2002 Feb 1;107(4):275-84.

PMID:
11840483
12.

Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience.

van Karnebeek CD, Koevoets C, Sluijter S, Bijlsma EK, Smeets DF, Redeker EJ, Hennekam RC, Hoovers JM.

J Med Genet. 2002 Aug;39(8):546-53.

13.

FISH screening for subtelomeric rearrangements in 219 patients with idiopathic mental retardation and normal karyotype.

Baroncini A, Rivieri F, Capucci A, Croci G, Franchi F, Sensi A, Battaglia P, Aiello V, Calzolari E.

Eur J Med Genet. 2005 Oct-Dec;48(4):388-96.

PMID:
16378923
14.

Pure subtelomeric microduplications as a cause of mental retardation.

Ruiter EM, Koolen DA, Kleefstra T, Nillesen WM, Pfundt R, de Leeuw N, Hamel BC, Brunner HG, Sistermans EA, de Vries BB.

Clin Genet. 2007 Oct;72(4):362-8.

PMID:
17850634
15.

[Multiplex ligation-dependent probe amplification analysis of subtelomeric chromosome rearrangements in children with idiopathic mental retardation].

Li MR, Wang XZ, Yang YL, Zhang YH, Xiong H, Bao XH, Zhong N, Wu XR, Pan H.

Zhonghua Yi Xue Za Zhi. 2009 Nov 3;89(40):2839-42. Chinese.

PMID:
20137665
16.
17.

[Detection of subtelomeric rearrangements in patients with idiopathic mental retardation/developmental delay].

Wu Y, Jiang YW, Wang XZ, Wang HF, Wang JM, Yang YL, Qin J, Zhong N, Wu XR.

Zhonghua Er Ke Za Zhi. 2007 Dec;45(12):906-11. Chinese.

PMID:
18339278
18.
19.

Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic mental retardation.

Bocian E, Hélias-Rodzewicz Z, Suchenek K, Obersztyn E, Kutkowska-Kaźmierczak A, Stankiewicz P, Kostyk E, Mazurczak T.

Med Sci Monit. 2004 Apr;10(4):CR143-51.

PMID:
15039644
20.

Subtelomeric chromosome rearrangements in children with idiopathic mental retardation: applicability of three molecular-cytogenetic methods.

Erjavec-Skerget A, Stangler-Herodez S, Zagorac A, Zagradisnik B, Kokalj-Vokac N.

Croat Med J. 2006 Dec;47(6):841-50.

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