255 related articles for article (PubMed ID: 18547887)
1. A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardation.
Gijsbers AC; Bijlsma EK; Weiss MM; Bakker E; Breuning MH; Hoffer MJ; Ruivenkamp CA
Eur J Med Genet; 2008; 51(5):479-87. PubMed ID: 18547887
[TBL] [Abstract][Full Text] [Related]
2. Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion.
Knijnenburg J; van Haeringen A; Hansson KB; Lankester A; Smit MJ; Belfroid RD; Bakker E; Rosenberg C; Tanke HJ; Szuhai K
Eur J Hum Genet; 2007 May; 15(5):548-55. PubMed ID: 17342151
[TBL] [Abstract][Full Text] [Related]
3. Prospective screening of patients with unexplained mental retardation using subtelomeric MLPA strongly increases the detection rate of cryptic unbalanced chromosomal rearrangements.
Stegmann AP; Jonker LM; Engelen JJ
Eur J Med Genet; 2008; 51(2):93-105. PubMed ID: 18032123
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 17850634
[TBL] [Abstract][Full Text] [Related]
5. 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.
Girirajan S; Williams S; Garbern J; Nowak N; Hatchwell E; Elsea S
Clin Genet; 2007 Jul; 72(1):47-58. PubMed ID: 17594399
[TBL] [Abstract][Full Text] [Related]
6. Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida.
Gustavsson P; Schoumans J; Staaf J; Borg A; Nordenskjöld M; Annerén G
Eur J Med Genet; 2007; 50(3):237-41. PubMed ID: 17387046
[TBL] [Abstract][Full Text] [Related]
7. High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases: ring chromosome 19 and partial duplication 2q.
Hermsen MA; Tijssen M; Acero IH; Meijer GA; Ylstra B; Toral JF
Eur J Med Genet; 2005; 48(3):310-8. PubMed ID: 16179226
[TBL] [Abstract][Full Text] [Related]
8. High-density genome array is superior to fluorescence in-situ hybridization analysis of monosomy 3 in choroidal melanoma fine needle aspiration biopsy.
Young TA; Burgess BL; Rao NP; Gorin MB; Straatsma BR
Mol Vis; 2007 Dec; 13():2328-33. PubMed ID: 18199974
[TBL] [Abstract][Full Text] [Related]
9. Duplication of 11p14.3-p15.1 in a mentally retarded proband and his mother detected by G-banding and confirmed by high-resolution CGH and BAC FISH.
Wyandt HE; Shim SH; Mark HF; Huang XL; Milunsky JM
Exp Mol Pathol; 2006 Jun; 80(3):262-6. PubMed ID: 16516886
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 16451137
[TBL] [Abstract][Full Text] [Related]
11. Complex constitutional subtelomeric 1p36.3 deletion/duplication in a mentally retarded child with neonatal neuroblastoma.
Isidor B; Le Cunff M; Boceno M; Boisseau P; Thomas C; Rival JM; David A; Le Caignec C
Eur J Med Genet; 2008; 51(6):679-84. PubMed ID: 18672103
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 15591274
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 16750667
[TBL] [Abstract][Full Text] [Related]
14. A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism.
Peeters H; Vermeesch J; Fryns JP
Genet Couns; 2008; 19(4):365-71. PubMed ID: 19239079
[TBL] [Abstract][Full Text] [Related]
15. De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features.
Makrythanasis P; Moix I; Gimelli S; Fluss J; Aliferis K; Antonarakis SE; Morris MA; Béna F; Bottani A
Clin Genet; 2010 Aug; 78(2):175-80. PubMed ID: 20236124
[TBL] [Abstract][Full Text] [Related]
16. Interstitial 6q duplication in an adult male without growth delay or severe mental retardation.
Cappon SL; Duncan AM; Khalifa MM
Med Sci Monit; 2000; 6(3):581-5. PubMed ID: 11208374
[TBL] [Abstract][Full Text] [Related]
17. High rate of detection of subtelomeric aberration by using combined MLPA and subtelomeric FISH approach in patients with moderate to severe mental retardation.
Lam AC; Lam ST; Lai KK; Tong TM; Chau TC
Clin Biochem; 2006 Mar; 39(3):196-202. PubMed ID: 16497288
[TBL] [Abstract][Full Text] [Related]
18. Chromosomal rearrangements in children with idiopathic mental retardation using subtelomeric fluorescent in situ hybridization.
Cogulu O; Gunduz C; Karaca E; Onay H; Ozkinay C; Ozkinay F
Genet Couns; 2006; 17(3):321-31. PubMed ID: 17100201
[TBL] [Abstract][Full Text] [Related]
19. Maternal balanced translocation (4;21) leading to an offspring with partial duplication of 4q and 21q without phenotypic manifestations of Down syndrome.
El-Ruby M; Hemly NA; Zaki MS
Genet Couns; 2007; 18(2):217-26. PubMed ID: 17710874
[TBL] [Abstract][Full Text] [Related]
20. [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. PubMed ID: 19953486
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]