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 *

143 related articles for article (PubMed ID: 35218942)

  • 1. Methylation analysis and developmental profile of two individuals with Angelman syndrome due to mosaic imprinting defects.
    Baker EK; Merton CF; Tan WH; Dudding-Byth T; Godler DE; Sadhwani A
    Eur J Med Genet; 2022 Apr; 65(4):104456. PubMed ID: 35218942
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature.
    Le Fevre A; Beygo J; Silveira C; Kamien B; Clayton-Smith J; Colley A; Buiting K; Dudding-Byth T
    Am J Med Genet A; 2017 Mar; 173(3):753-757. PubMed ID: 28211971
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect.
    Fairbrother LC; Cytrynbaum C; Boutis P; Buiting K; Weksberg R; Williams C
    Am J Med Genet A; 2015 Jul; 167(7):1565-9. PubMed ID: 25899869
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method.
    Zeschnigk M; Schmitz B; Dittrich B; Buiting K; Horsthemke B; Doerfler W
    Hum Mol Genet; 1997 Mar; 6(3):387-95. PubMed ID: 9147641
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome.
    White HE; Durston VJ; Harvey JF; Cross NC
    Clin Chem; 2006 Jun; 52(6):1005-13. PubMed ID: 16574761
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A modified MS-PCR approach to diagnose patients with Prader-Willi and Angelman syndrome.
    Dos Santos JF; Mota LR; Rocha PH; Ferreira de Lima RL
    Mol Biol Rep; 2016 Nov; 43(11):1221-1225. PubMed ID: 27535666
    [TBL] [Abstract][Full Text] [Related]  

  • 8. DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.
    Joshi RS; Garg P; Zaitlen N; Lappalainen T; Watson CT; Azam N; Ho D; Li X; Antonarakis SE; Brunner HG; Buiting K; Cheung SW; Coffee B; Eggermann T; Francis D; Geraedts JP; Gimelli G; Jacobson SG; Le Caignec C; de Leeuw N; Liehr T; Mackay DJ; Montgomery SB; Pagnamenta AT; Papenhausen P; Robinson DO; Ruivenkamp C; Schwartz C; Steiner B; Stevenson DA; Surti U; Wassink T; Sharp AJ
    Am J Hum Genet; 2016 Sep; 99(3):555-566. PubMed ID: 27569549
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Familial cryptic translocation resulting in Angelman syndrome:implications for imprinting or location of the Angelman gene?
    Burke LW; Wiley JE; Glenn CC; Driscoll DJ; Loud KM; Smith AJ; Kushnick T
    Am J Hum Genet; 1996 Apr; 58(4):777-84. PubMed ID: 8644742
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations.
    Gentile JK; Tan WH; Horowitz LT; Bacino CA; Skinner SA; Barbieri-Welge R; Bauer-Carlin A; Beaudet AL; Bichell TJ; Lee HS; Sahoo T; Waisbren SE; Bird LM; Peters SU
    J Dev Behav Pediatr; 2010 Sep; 31(7):592-601. PubMed ID: 20729760
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes.
    Glenn CC; Driscoll DJ; Yang TP; Nicholls RD
    Mol Hum Reprod; 1997 Apr; 3(4):321-32. PubMed ID: 9237260
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes.
    White HE; Hall VJ; Cross NC
    Clin Chem; 2007 Nov; 53(11):1960-2. PubMed ID: 17890436
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A mouse model of Angelman syndrome imprinting defects.
    Lewis MW; Vargas-Franco D; Morse DA; Resnick JL
    Hum Mol Genet; 2019 Jan; 28(2):220-229. PubMed ID: 30260400
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Quantitative and qualitative analyses of the SNRPN gene using real-time PCR with melting curve analysis.
    Hung CC; Lin SY; Lin SP; Chen CP; Chen LY; Lee CN; Su YN
    J Mol Diagn; 2011 Nov; 13(6):609-13. PubMed ID: 21889609
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion.
    Neubert G; von Au K; Drossel K; Tzschach A; Horn D; Nickel R; Kaindl AM
    Gene; 2013 Jan; 512(2):453-5. PubMed ID: 23124039
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes.
    Camprubí C; Coll MD; Villatoro S; Gabau E; Kamli A; Martínez MJ; Poyatos D; Guitart M
    Eur J Med Genet; 2007; 50(1):11-20. PubMed ID: 17095305
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Angelman syndrome: a review of the clinical and genetic aspects.
    Clayton-Smith J; Laan L
    J Med Genet; 2003 Feb; 40(2):87-95. PubMed ID: 12566516
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15.
    Sharp AJ; Migliavacca E; Dupre Y; Stathaki E; Sailani MR; Baumer A; Schinzel A; Mackay DJ; Robinson DO; Cobellis G; Cobellis L; Brunner HG; Steiner B; Antonarakis SE
    Genome Res; 2010 Sep; 20(9):1271-8. PubMed ID: 20631049
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues.
    Inbar-Feigenberg M; Choufani S; Cytrynbaum C; Chen YA; Steele L; Shuman C; Ray PN; Weksberg R
    Am J Med Genet A; 2013 Jan; 161A(1):13-20. PubMed ID: 23239666
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.