Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 115

1.

Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances.

Kjaergaard S, Sundberg K, Jørgensen FS, Rohde MD, Lind AM, Gerdes T, Tabor A, Kirchhoff M.

Prenat Diagn. 2010 Oct;30(10):995-9. doi: 10.1002/pd.2604.

PMID:
20824892
2.

Uncovering recurrent microdeletion syndromes and subtelomeric deletions/duplications through non-selective application of a MLPA-based extended prenatal panel in routine prenatal diagnosis.

Konialis C, Hagnefelt B, Sevastidou S, Karapanou S, Pispili K, Markaki A, Pangalos C.

Prenat Diagn. 2011 Jun;31(6):571-7. doi: 10.1002/pd.2750. Epub 2011 Mar 29.

PMID:
21448863
5.

Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries.

Jehee FS, Takamori JT, Medeiros PF, Pordeus AC, Latini FR, Bertola DR, Kim CA, Passos-Bueno MR.

Eur J Med Genet. 2011 Jul-Aug;54(4):e425-32. doi: 10.1016/j.ejmg.2011.03.007. Epub 2011 Mar 30.

6.

Feasibility and outcomes of multiplex ligation-dependent probe amplification on buccal smears as a screening method for microdeletions and duplications among 300 adults with an intellectual disability of unknown aetiology.

Peppink D, Douma-Kloppenburg DD, de Rooij-Askes ES, van Zoest IM, Evenhuis HM, Gille JJ, van Hagen JM.

J Intellect Disabil Res. 2008 Jan;52(Pt 1):59-67. doi: 10.1111/j.1365-2788.2007.00980.x.

PMID:
18173573
7.

Incidences of micro-deletion/duplication 22q11.2 detected by multiplex ligation-dependent probe amplification in patients with congenital cardiac disease who are scheduled for cardiac surgery.

Hu Y, Zhu X, Yang Y, Mo X, Sheng M, Yao J, Wang D.

Cardiol Young. 2009 Apr;19(2):179-84. doi: 10.1017/S1047951109003667. Epub 2009 Feb 19.

PMID:
19224675
8.

[Evaluation of detection and analysis of chromosome 22q11.2 microdeletion by multiple ligation-dependent probe amplification assay].

DENG JY, ZHANG ZW, LI JH, ZHU YN, YANG JB, GAO Z, YING LY.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Apr;28(2):190-4. doi: 10.3760/cma.j.issn.1003-9406.2011.02.015. Chinese.

PMID:
21462133
9.

MLPA: a prenatal diagnostic tool for the study of congenital heart defects?

Mademont-Soler I, Morales C, Soler A, Clusellas N, Margarit E, Martínez-Barrios E, Martínez JM, Sánchez A.

Gene. 2012 May 25;500(1):151-4. doi: 10.1016/j.gene.2012.03.030. Epub 2012 Mar 15.

PMID:
22446045
10.

Multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosis.

Willis AS, van den Veyver I, Eng CM.

Prenat Diagn. 2012 Apr;32(4):315-20. doi: 10.1002/pd.3860. Review.

PMID:
22467161
11.
12.

[Application of multiplex ligation-dependent probe amplification for rapid detection of aneuploidies in prenatal diagnosis].

Ma DY, Hu P, Zhang JJ, Yi L, Ji XQ, Yang C, Cheng J, Li L, Lin Y, Xu ZF.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Oct;28(5):543-7. doi: 10.3760/cma.j.issn.1003-9406.2011.05.016. Chinese.

PMID:
21983731
13.

Testing for 22q11 microdeletion in 146 fetuses with nuchal translucency above the 99th percentile and a normal karyotype.

Lautrup CK, Kjaergaard S, Brøndum-Nielsen K, Fagerberg C, Hertz JM, Petersen OB, Jørgensen MW, Vogel I.

Acta Obstet Gynecol Scand. 2008;87(11):1252-5. doi: 10.1080/00016340802482994.

PMID:
18951212
14.

Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study.

Boormans EM, Birnie E, Wildschut HI, Schuring-Blom HG, Oepkes D, van Oppen CA, Nijhuis JG, Macville MV, Kooper AJ, Huijsdens K, Hoffer MV, Go A, Creemers J, Bhola SL, Bilardo KM, Suijkerbuijk R, Bouman K, Galjaard RJ, Bonsel GJ, van Lith JM.

BMC Pregnancy Childbirth. 2008 May 20;8:18. doi: 10.1186/1471-2393-8-18.

15.

Prenatal detection of cryptic rearrangements by multiplex ligation probe amplification in fetuses with ultrasound abnormalities.

Goumy C, Gouas L, Pebrel-Richard C, Véronèse L, Eymard-Pierre E, Debost-Legrand A, Haoud K, Tchirkov A, Vago P.

Genet Med. 2010 Jun;12(6):376-80. doi: 10.1097/GIM.0b013e3181e074c6.

PMID:
20453657
16.

High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy.

Bruno DL, Burgess T, Ren H, Nouri S, Pertile MD, Francis DI, Norris F, Kenney BK, Schouten J, Andy Choo KH, Slater HR.

Am J Med Genet A. 2006 Dec 15;140(24):2786-93.

PMID:
17106871
17.
18.

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. doi: 10.1002/pd.2020. No abstract available.

PMID:
18509863
19.

Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre.

Ahn JW, Ogilvie CM, Welch A, Thomas H, Madula R, Hills A, Donaghue C, Mann K.

BMC Med Genet. 2007 Mar 5;8:9.

20.

Increased nuchal translucency with normal karyotype: a follow-up study of 100 cases supplemented with CGH and MLPA analyses.

Schou KV, Kirchhoff M, Nygaard U, Jørgensen C, Sundberg K.

Ultrasound Obstet Gynecol. 2009 Dec;34(6):618-22. doi: 10.1002/uog.7468.

Items per page

Supplemental Content

Write to the Help Desk