These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

159 related articles for article (PubMed ID: 17674414)

  • 1. Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification.
    Djarmati A; Guzvić M; Grünewald A; Lang AE; Pramstaller PP; Simon DK; Kaindl AM; Vieregge P; Nygren AO; Beetz C; Hedrich K; Klein C
    Mov Disord; 2007 Sep; 22(12):1708-14. PubMed ID: 17674414
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B.
    Kwon MJ; Yoo KY; Kim HJ; Kim SH
    Haemophilia; 2008 Sep; 14(5):1069-75. PubMed ID: 18624698
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of exonic deletions in the PAH gene causing phenylketonuria by MLPA analysis.
    Desviat LR; Pérez B; Ugarte M
    Clin Chim Acta; 2006 Nov; 373(1-2):164-7. PubMed ID: 16875683
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Multiplex ligation-dependent probe amplification (MLPA) screening for exon copy number variation in the calcium sensing receptor gene: no large rearrangements identified in patients with calcium metabolic disorders.
    Nissen PH; Christensen SE; Wallace A; Heickendorff L; Brixen K; Mosekilde L
    Clin Endocrinol (Oxf); 2010 Jun; 72(6):758-62. PubMed ID: 19912241
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia.
    Mei D; Parrini E; Pasqualetti M; Tortorella G; Franzoni E; Giussani U; Marini C; Migliarini S; Guerrini R
    Neurology; 2007 Feb; 68(6):446-50. PubMed ID: 17283321
    [TBL] [Abstract][Full Text] [Related]  

  • 7. MLPA as a screening method of aneuploidy and unbalanced chromosomal rearrangements in spontaneous miscarriages.
    Diego-Alvarez D; Rodriguez de Alba M; Cardero-Merlo R; Diaz-Recasens J; Ayuso C; Ramos C; Lorda-Sanchez I
    Prenat Diagn; 2007 Aug; 27(8):765-71. PubMed ID: 17546698
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Deletion and duplication screening in the DMD gene using MLPA.
    Lalic T; Vossen RH; Coffa J; Schouten JP; Guc-Scekic M; Radivojevic D; Djurisic M; Breuning MH; White SJ; den Dunnen JT
    Eur J Hum Genet; 2005 Nov; 13(11):1231-4. PubMed ID: 16030524
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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. PubMed ID: 16941473
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.
    Hardwick SA; Reuter K; Williamson SL; Vasudevan V; Donald J; Slater K; Bennetts B; Bebbington A; Leonard H; Williams SR; Smith RL; Cloosterman D; Christodoulou J
    Eur J Hum Genet; 2007 Dec; 15(12):1218-29. PubMed ID: 17712354
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Detection of large deletions in the LDL receptor gene with quantitative PCR methods.
    Damgaard D; Nissen PH; Jensen LG; Nielsen GG; Stenderup A; Larsen ML; Faergeman O
    BMC Med Genet; 2005 Apr; 6():15. PubMed ID: 15842735
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases.
    Engert S; Wappenschmidt B; Betz B; Kast K; Kutsche M; Hellebrand H; Goecke TO; Kiechle M; Niederacher D; Schmutzler RK; Meindl A
    Hum Mutat; 2008 Jul; 29(7):948-58. PubMed ID: 18431737
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Myoclonus-dystonia: significance of large SGCE deletions.
    Grünewald A; Djarmati A; Lohmann-Hedrich K; Farrell K; Zeller JA; Allert N; Papengut F; Petersen B; Fung V; Sue CM; O'Sullivan D; Mahant N; Kupsch A; Chuang RS; Wiegers K; Pawlack H; Hagenah J; Ozelius LJ; Stephani U; Schuit R; Lang AE; Volkmann J; Münchau A; Klein C
    Hum Mutat; 2008 Feb; 29(2):331-2. PubMed ID: 18205193
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [MLPA technique--principles and use in practice].
    Rusu C; Sireteanu A; Puiu M; Skrypnyk C; Tomescu E; Csep K; Creţ V; Barbarii L
    Rev Med Chir Soc Med Nat Iasi; 2007; 111(4):1001-4. PubMed ID: 18389795
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of a novel BRCA1 large genomic rearrangement in a Spanish breast/ovarian cancer family.
    Palanca Suela S; Esteban Cardeñosa E; Barragán González E; Oltra Soler S; de Juan Jiménez I; Chirivella González I; Segura Huerta A; Guillén Ponce C; Martínez de Dueñas E; Bolufer Gilabert P;
    Breast Cancer Res Treat; 2008 Nov; 112(1):63-7. PubMed ID: 18060491
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. [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]  

  • 20. Multiplex ligation-dependent probe amplification (MLPA) in tumor diagnostics and prognostics.
    Hömig-Hölzel C; Savola S
    Diagn Mol Pathol; 2012 Dec; 21(4):189-206. PubMed ID: 23111197
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.