111 related articles for article (PubMed ID: 20017297)
1. [Detection of microdeletion in Williams syndrome by multiplex ligation-dependent probe amplification].
Peng YY; Meng Y; Qiu ZQ; Wang O; Huang SZ
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Aug; 26(4):369-73. PubMed ID: 20017297
[TBL] [Abstract][Full Text] [Related]
2. [Combining approach with multiplex PCR and MLPA to detect deletion and duplication in DMD patients, carriers, and prenatal diagnosis].
Li H; Ding J; Wang W; Chen Y; Lu W; Shao H; Wu BL
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Jun; 26(3):318-22. PubMed ID: 19504448
[TBL] [Abstract][Full Text] [Related]
3. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
4. MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.
Kirchhoff M; Bisgaard AM; Bryndorf T; Gerdes T
Eur J Med Genet; 2007; 50(1):33-42. PubMed ID: 17090394
[TBL] [Abstract][Full Text] [Related]
5. Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome.
Shen Y; Wu BL
J Genet Genomics; 2009 Apr; 36(4):257-65. PubMed ID: 19376486
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 19953486
[TBL] [Abstract][Full Text] [Related]
7. Prenatal diagnosis of a fetus with 7q11.23 deletion detected by multiplex ligation-dependent probe amplification (MLPA) screening.
Kontos H; Manolakos E; Malligiannis P; Plachouras N; Ploumis N; Mihalatos M; Orru S; Anastasiadou E; Petersen MB
Prenat Diagn; 2008 Jun; 28(6):556-8. PubMed ID: 18509863
[No Abstract] [Full Text] [Related]
8. 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. PubMed ID: 14695528
[TBL] [Abstract][Full Text] [Related]
9. [Detection of a Williams Beuren syndrome case by MLPA].
Laurito S; Branham T; Herrero G; Marsa S; Garro F; Roqué M
Medicina (B Aires); 2013; 73(1):47-50. PubMed ID: 23335707
[TBL] [Abstract][Full Text] [Related]
10. Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses.
White SJ; Vink GR; Kriek M; Wuyts W; Schouten J; Bakker B; Breuning MH; den Dunnen JT
Hum Mutat; 2004 Jul; 24(1):86-92. PubMed ID: 15221792
[TBL] [Abstract][Full Text] [Related]
11. Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method.
Slater H; Bruno D; Ren H; La P; Burgess T; Hills L; Nouri S; Schouten J; Choo KH
Hum Mutat; 2004 Aug; 24(2):164-71. PubMed ID: 15241798
[TBL] [Abstract][Full Text] [Related]
12. Comparing two diagnostic laboratory tests for Williams syndrome: fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification.
van Hagen JM; Eussen HJ; van Schooten R; van Der Geest JN; Lagers-van Haselen GC; Wouters CH; De Zeeuw CI; Gille JJ
Genet Test; 2007; 11(3):321-7. PubMed ID: 17949295
[TBL] [Abstract][Full Text] [Related]
13. Investigation of microdeletions in syndromic intellectual disability by MLPA in Iranian population.
Loghmani Khouzani H; Kariminejad A; Zamani G; Ghalandary M; Bozorgmehr B; Amirsalari S; Mojahedi F; Tonekaboni SH; Kariminejad R; Najmabadi H
Arch Iran Med; 2014 Jul; 17(7):471-4. PubMed ID: 24979557
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: evidence for both homologous and non-homologous mechanisms of rearrangement.
Kozak L; Hrabincova E; Kintr J; Horky O; Zapletalova P; Blahakova I; Mejstrik P; Prochazkova D
Mol Genet Metab; 2006 Dec; 89(4):300-9. PubMed ID: 16931086
[TBL] [Abstract][Full Text] [Related]
16. Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA).
Gerdes T; Kirchhoff M; Lind AM; Larsen GV; Schwartz M; Lundsteen C
Eur J Hum Genet; 2005 Feb; 13(2):171-5. PubMed ID: 15483643
[TBL] [Abstract][Full Text] [Related]
17. New applications and developments in the use of multiplex ligation-dependent probe amplification.
Kozlowski P; Jasinska AJ; Kwiatkowski DJ
Electrophoresis; 2008 Dec; 29(23):4627-36. PubMed ID: 19053154
[TBL] [Abstract][Full Text] [Related]
18. Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA).
Lai KK; Lo IF; Tong TM; Cheng LY; Lam ST
Clin Biochem; 2006 Apr; 39(4):367-72. PubMed ID: 16413013
[TBL] [Abstract][Full Text] [Related]
19. [Genetic and prenatal diagnosis for four families with Williams-Beuren syndrome].
Liu Y; Xu ZY; Wu WQ; Luo FW; Xie JS
Zhongguo Dang Dai Er Ke Za Zhi; 2015 Dec; 17(12):1267-72. PubMed ID: 26695662
[TBL] [Abstract][Full Text] [Related]
20. Comparing two diagnostic laboratory tests for several microdeletions causing mental retardation syndromes: multiplex ligation-dependent amplification vs fluorescent in situ hybridization.
Cho EH; Park BY; Cho JH; Kang YS
Korean J Lab Med; 2009 Feb; 29(1):71-6. PubMed ID: 19262082
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
