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Results: 1 to 20 of 283

1.

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification.

Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G.

Nucleic Acids Res. 2002 Jun 15;30(12):e57.

PMID:
12060695
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.

Taylor CF, Charlton RS, Burn J, Sheridan E, Taylor GR.

Hum Mutat. 2003 Dec;22(6):428-33.

PMID:
14635101
[PubMed - indexed for MEDLINE]
3.

Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques.

Nakagawa H, Hampel H, de la Chapelle A.

Hum Mutat. 2003 Sep;22(3):258.

PMID:
12938096
[PubMed - indexed for MEDLINE]
4.

Multiplex Ligation-dependent Probe Amplification (MLPA®) for the detection of copy number variation in genomic sequences.

Eijk-Van Os PG, Schouten JP.

Methods Mol Biol. 2011;688:97-126. doi: 10.1007/978-1-60761-947-5_8.

PMID:
20938835
[PubMed - indexed for MEDLINE]
5.

Genomic rearrangements in MSH2, MLH1 or MSH6 are rare in HNPCC patients carrying point mutations.

Pistorius S, Görgens H, Plaschke J, Hoehl R, Krüger S, Engel C, Saeger HD, Schackert HK.

Cancer Lett. 2007 Apr 8;248(1):89-95. Epub 2006 Jul 11.

PMID:
16837128
[PubMed - indexed for MEDLINE]
6.

Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements.

De Lellis L, Curia MC, Catalano T, De Toffol S, Bassi C, Mareni C, Bertario L, Battista P, Mariani-Costantini R, Radice P, Cama A.

Hum Mutat. 2006 Oct;27(10):1047-56.

PMID:
16941473
[PubMed - indexed for MEDLINE]
7.

The use of intragenic polymorphisms in determination of the genomic relevance of whole-exon deletions in MLH1 and MSH2.

Liu T, Holmberg E, Lindblom A.

Clin Genet. 2001 Mar;59(3):201-2. No abstract available.

PMID:
11260232
[PubMed - indexed for MEDLINE]
8.

Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes.

Wehner M, Mangold E, Sengteller M, Friedrichs N, Aretz S, Friedl W, Propping P, Pagenstecher C.

Eur J Hum Genet. 2005 Aug;13(8):983-6.

PMID:
15870828
[PubMed - indexed for MEDLINE]
Free Article
9.

Genomic rearrangements in MSH2 and MLH1 are rare mutational events in Spanish patients with hereditary nonpolyposis colorectal cancer.

Castellví-Bel S, Castells A, Strunk M, Ferrández A, Piazuelo E, Milà M, Piñol V, Rodríguez-Moranta F, Andreu M, Lanas A, Piqué JM; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association.

Cancer Lett. 2005 Jul 8;225(1):93-8.

PMID:
16003840
[PubMed - indexed for MEDLINE]
10.

Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis.

Berends MJ, Wu Y, Sijmons RH, van der Sluis T, Ek WB, Ligtenberg MJ, Arts NJ, ten Hoor KA, Kleibeuker JH, de Vries EG, Mourits MJ, Hollema H, Buys CH, Hofstra RM, van der Zee AG.

J Clin Oncol. 2003 Dec 1;21(23):4364-70.

PMID:
14645426
[PubMed - indexed for MEDLINE]
11.

Multiplex ligation-dependent probe amplification analysis on capillary electrophoresis instruments for a rapid gene copy number study.

Jankowski S, Currie-Fraser E, Xu L, Coffa J.

J Biomol Tech. 2008 Sep;19(4):238-43.

PMID:
19137113
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Hereditary nonpolyposis colorectal cancer: frequent occurrence of large genomic deletions in MSH2 and MLH1 genes.

Wang Y, Friedl W, Lamberti C, Jungck M, Mathiak M, Pagenstecher C, Propping P, Mangold E.

Int J Cancer. 2003 Feb 20;103(5):636-41.

PMID:
12494471
[PubMed - indexed for MEDLINE]
13.

Mutation searching in colorectal cancer studies: experience with a denaturing high-pressure liquid chromatography system for exon-by-exon scanning of tumour suppressor genes.

Young J, Barker M, Fraser L, Walsh MD, Spring K, Biden KG, Hopper JL, Leggett BA, Jass JR.

Pathology. 2002 Dec;34(6):529-33.

PMID:
12555990
[PubMed - indexed for MEDLINE]
14.

Confirmation of single exon deletions in MLH1 and MSH2 using quantitative polymerase chain reaction.

Vaughn CP, Lyon E, Samowitz WS.

J Mol Diagn. 2008 Jul;10(4):355-60. doi: 10.2353/jmoldx.2008.080021. Epub 2008 Jun 13.

PMID:
18556772
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH).

Staaf J, Törngren T, Rambech E, Johansson U, Persson C, Sellberg G, Tellhed L, Nilbert M, Borg A.

Hum Mutat. 2008 Apr;29(4):555-64. doi: 10.1002/humu.20678.

PMID:
18330910
[PubMed - indexed for MEDLINE]
16.

Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors.

Bujalkova M, Zavodna K, Krivulcik T, Ilencikova D, Wolf B, Kovac M, Karner-Hanusch J, Heinimann K, Marra G, Jiricny J, Bartosova Z.

Clin Chem. 2008 Nov;54(11):1844-54. doi: 10.1373/clinchem.2008.108902. Epub 2008 Sep 4.

PMID:
18772310
[PubMed - indexed for MEDLINE]
Free Article
17.

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.

PMID:
15221792
[PubMed - indexed for MEDLINE]
18.

Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method.

Hogervorst FB, Nederlof PM, Gille JJ, McElgunn CJ, Grippeling M, Pruntel R, Regnerus R, van Welsem T, van Spaendonk R, Menko FH, Kluijt I, Dommering C, Verhoef S, Schouten JP, van't Veer LJ, Pals G.

Cancer Res. 2003 Apr 1;63(7):1449-53.

PMID:
12670888
[PubMed - indexed for MEDLINE]
Free Article
19.

Colorimetric quantification of mRNA expression in rare tumour cells amplified by multiple ligation-dependent probe amplification.

Acero Sanchez JL, Henry OY, Mairal T, Laddach N, Nygren A, Hauch S, Fetisch J, O'Sullivan CK.

Anal Bioanal Chem. 2010 Jul;397(6):2325-34. doi: 10.1007/s00216-010-3830-5. Epub 2010 Jun 6.

PMID:
20526769
[PubMed - indexed for MEDLINE]
20.

[Large deletion in mismatch repair genes uncovered by quantitative multiplex PCR-high performance liquid chromatography system].

Wang YP, Zhu M, Sun MH, Li JT, Zhang JN, Zhang XM, Liu XR.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Dec;20(6):517-21. Chinese.

PMID:
14669222
[PubMed - indexed for MEDLINE]

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