BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

381 related articles for article (PubMed ID: 15719045)

  • 1. Effectiveness of multiplex ligation-dependent probe amplification assay used for detecting deletion of Prader-Willi syndrome.
    Shao H; Lip V; Wu BL
    Beijing Da Xue Xue Bao Yi Xue Ban; 2005 Feb; 37(1):64-7. PubMed ID: 15719045
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification.
    Procter M; Chou LS; Tang W; Jama M; Mao R
    Clin Chem; 2006 Jul; 52(7):1276-83. PubMed ID: 16690734
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Methylation-specific multiplex ligation-dependent probe amplification in diagnosis of Prader-Willi syndrome and Angelman syndrome].
    Li MR; Wang XZ; Liu XY; Yang YL; Bao XH; Zhang YH; Xiong H; Zhong N; Qin J; Wu XR; Pan H
    Zhonghua Yi Xue Za Zhi; 2008 Dec; 88(46):3257-61. PubMed ID: 19159549
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria.
    Gunay-Aygun M; Schwartz S; Heeger S; O'Riordan MA; Cassidy SB
    Pediatrics; 2001 Nov; 108(5):E92. PubMed ID: 11694676
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome.
    Zilina O; Kahre T; Talvik I; Oiglane-Shlik E; Tillmann V; Ounap K
    Eur J Med Genet; 2014; 57(6):279-83. PubMed ID: 24704109
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader-Willi Syndrome and Angelman Syndrome.
    Kim B; Park Y; Cho SI; Kim MJ; Chae JH; Kim JY; Seong MW; Park SS
    Ann Lab Med; 2022 Jan; 42(1):79-88. PubMed ID: 34374352
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome.
    Henkhaus RS; Kim SJ; Kimonis VE; Gold JA; Dykens EM; Driscoll DJ; Butler MG
    Genet Test Mol Biomarkers; 2012 Mar; 16(3):178-86. PubMed ID: 21977908
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Newborn screening for Prader-Willi syndrome is feasible: Early diagnosis for better outcomes.
    Mahmoud R; Singh P; Weiss L; Lakatos A; Oakes M; Hossain W; Butler MG; Kimonis V
    Am J Med Genet A; 2019 Jan; 179(1):29-36. PubMed ID: 30556641
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Prader-Willi syndrome and genomic imprinting].
    Wang W; Wang DF; Cui YF; Ni JH; Dong ZY; Fu MF; Fu HM; Lu GQ; Chen FS
    Zhonghua Er Ke Za Zhi; 2003 Jun; 41(6):453-6. PubMed ID: 14749005
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A girl with incomplete Prader-Willi syndrome and negative MS-PCR, found to have mosaic maternal UPD-15 at SNP array.
    Morandi A; Bonnefond A; Lobbens S; Carotenuto M; Del Giudice EM; Froguel P; Maffeis C
    Am J Med Genet A; 2015 Nov; 167A(11):2720-6. PubMed ID: 26109092
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10).
    Erdel M; Schuffenhauer S; Buchholz B; Barth-Witte U; Köchl S; Utermann B; Duba HC; Utermann G
    Hum Genet; 1996 Jun; 97(6):784-93. PubMed ID: 8641697
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.
    Santoro SL; Hashimoto S; McKinney A; Mihalic Mosher T; Pyatt R; Reshmi SC; Astbury C; Hickey SE
    Cytogenet Genome Res; 2017; 152(2):105-109. PubMed ID: 28746920
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical and genetic features of Prader-Willi syndrome in China.
    Lu W; Qi Y; Cui B; Chen XL; Wu BB; Chen C; Cao Y; Zhou WH; Xu H; Luo FH
    Eur J Pediatr; 2014 Jan; 173(1):81-6. PubMed ID: 23933672
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Value of methylation-specific mutiplex ligation-dependent probe in the diagnosis of Prader-Willi syndrome].
    Zhan SN; Wang CZ; Yang Y; Wang Y; Wu HL; Li H; He XY
    Zhongguo Dang Dai Er Ke Za Zhi; 2012 Jun; 14(6):445-8. PubMed ID: 22738453
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Rapid Diagnosis of Imprinting Disorders Involving Copy Number Variation and Uniparental Disomy Using Genome-Wide SNP Microarrays.
    Liu W; Zhang R; Wei J; Zhang H; Yu G; Li Z; Chen M; Sun X
    Cytogenet Genome Res; 2015; 146(1):9-18. PubMed ID: 26184742
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Prader-Willi syndrome patient with atypical phenotypes caused by mosaic deletion in the paternal 15q11-q13 region: a case report.
    Wu J; Lei M; Wang X; Liu N; Xu X; Gu C; Yu Y; Liu W
    Ital J Pediatr; 2022 Dec; 48(1):204. PubMed ID: 36582000
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD.
    Muthusamy K; Macke EL; Klee EW; Tebben PJ; Hand JL; Hasadsri L; Marcou CA; Schimmenti LA
    Am J Med Genet A; 2020 Oct; 182(10):2442-2449. PubMed ID: 32815268
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes.
    Driscoll DJ; Waters MF; Williams CA; Zori RT; Glenn CC; Avidano KM; Nicholls RD
    Genomics; 1992 Aug; 13(4):917-24. PubMed ID: 1505981
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular characterization of Prader-Willi syndrome by real-time PCR.
    Munce T; Simpson R; Bowling F
    Genet Test; 2008 Jun; 12(2):319-24. PubMed ID: 18554170
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 20.