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 *

149 related articles for article (PubMed ID: 14641994)

  • 1. Denaturing high-performance liquid chromatography for the detection of mutations and polymorphisms in UBE3A.
    Bercovich D; Beaudet AL
    Genet Test; 2003; 7(3):189-94. PubMed ID: 14641994
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The spectrum of mutations in UBE3A causing Angelman syndrome.
    Fang P; Lev-Lehman E; Tsai TF; Matsuura T; Benton CS; Sutcliffe JS; Christian SL; Kubota T; Halley DJ; Meijers-Heijboer H; Langlois S; Graham JM; Beuten J; Willems PJ; Ledbetter DH; Beaudet AL
    Hum Mol Genet; 1999 Jan; 8(1):129-35. PubMed ID: 9887341
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Detection of a deletion of exons 8-16 of the UBE3A gene in familial Angelman syndrome using a semi-quantitative dosage PCR based assay.
    Boyes L; Wallace AJ; Krajewska-Walasek M; Chrzanowska KH; Clayton-Smith J; Ramsden S
    Eur J Med Genet; 2006; 49(6):472-80. PubMed ID: 16740422
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutation Update for UBE3A variants in Angelman syndrome.
    Sadikovic B; Fernandes P; Zhang VW; Ward PA; Miloslavskaya I; Rhead W; Rosenbaum R; Gin R; Roa B; Fang P
    Hum Mutat; 2014 Dec; 35(12):1407-17. PubMed ID: 25212744
    [TBL] [Abstract][Full Text] [Related]  

  • 5. NF1 gene analysis based on DHPLC.
    De Luca A; Buccino A; Gianni D; Mangino M; Giustini S; Richetta A; Divona L; Calvieri S; Mingarelli R; Dallapiccola B
    Hum Mutat; 2003 Feb; 21(2):171-2. PubMed ID: 12552569
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Angelman Syndrome Due to UBE3A Gene Mutation.
    Goswami JN; Sahu JK; Singhi P
    Indian J Pediatr; 2018 May; 85(5):390-391. PubMed ID: 29250725
    [TBL] [Abstract][Full Text] [Related]  

  • 7. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.
    Matsuura T; Sutcliffe JS; Fang P; Galjaard RJ; Jiang YH; Benton CS; Rommens JM; Beaudet AL
    Nat Genet; 1997 Jan; 15(1):74-7. PubMed ID: 8988172
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Denaturing high-performance liquid chromatography is a suitable method for PMM2 mutation screening in carbohydrate-deficient glycoprotein syndrome type IA patients.
    Erlandson A; Stibler H; Kristiansson B; Wahlström J; Martinsson T
    Genet Test; 2000; 4(3):293-7. PubMed ID: 11142762
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree.
    Abaied L; Trabelsi M; Chaabouni M; Kharrat M; Kraoua L; M'rad R; Tebib N; Maazoul F; Chaabouni H
    Am J Med Genet A; 2010 Jan; 152A(1):141-6. PubMed ID: 20034088
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations.
    Liu W; Smith DI; Rechtzigel KJ; Thibodeau SN; James CD
    Nucleic Acids Res; 1998 Mar; 26(6):1396-400. PubMed ID: 9490783
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel missense mutation of the ubiquitin protein ligase E3A gene in a patient with Angelman syndrome.
    Bai JL; Qu YJ; Zou LP; Yang XY; Liu LJ; Song F
    Chin Med J (Engl); 2011 Jan; 124(1):84-8. PubMed ID: 21362313
    [TBL] [Abstract][Full Text] [Related]  

  • 12. UBE3A "mutations" in two unrelated and phenotypically different Angelman syndrome patients.
    Fung DC; Yu B; Cheong KF; Smith A; Trent RJ
    Hum Genet; 1998 Apr; 102(4):487-92. PubMed ID: 9600250
    [TBL] [Abstract][Full Text] [Related]  

  • 13. UBE3A gene mutations in Finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis.
    Rapakko K; Kokkonen H; Leisti J
    Am J Med Genet A; 2004 Apr; 126A(3):248-52. PubMed ID: 15054837
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Evaluation of denaturing high-performance liquid chromatography as a rapid detection method for identification of epidermal growth factor receptor mutations in nonsmall-cell lung cancer.
    Cohen V; Agulnik JS; Jarry J; Batist G; Small D; Kreisman H; Tejada NA; Miller WH; Chong G
    Cancer; 2006 Dec; 107(12):2858-65. PubMed ID: 17096434
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene.
    Mátyás G; De Paepe A; Halliday D; Boileau C; Pals G; Steinmann B
    Hum Mutat; 2002 Apr; 19(4):443-56. PubMed ID: 11933199
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
    Shabbeer J; Robinson M; Desnick RJ
    Hum Mutat; 2005 Mar; 25(3):299-305. PubMed ID: 15712228
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Mutation detection of parkin gene by denaturing high performance liquid chromatography].
    Li J; Tang BS; Guo JF; Zhang YH; Yan XX; Mu YF; Zhang XW; Xia K; Pan Q; Shen L; Jiang H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Aug; 24(4):449-52. PubMed ID: 17680541
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions.
    Camprubí C; Guitart M; Gabau E; Coll MD; Villatoro S; Oltra S; Roselló M; Ferrer I; Monfort S; Orellana C; Martínez F
    Am J Med Genet A; 2009 Mar; 149A(3):343-8. PubMed ID: 19213023
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Towards a therapy for Angelman syndrome by targeting a long non-coding RNA.
    Meng L; Ward AJ; Chun S; Bennett CF; Beaudet AL; Rigo F
    Nature; 2015 Feb; 518(7539):409-12. PubMed ID: 25470045
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel deletion encompassing exons 5-12 of the UBE3A gene in a girl with Angelman syndrome.
    Beleza-Meireles A; Cerqueira R; Sousa SB; Palmeiro A; Ramos L
    Eur J Med Genet; 2011; 54(3):348-50. PubMed ID: 21397058
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.