BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

152 related articles for article (PubMed ID: 9152844)

  • 1. Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy.
    Smith A; Marks R; Haan E; Dixon J; Trent RJ
    J Med Genet; 1997 May; 34(5):426-9. PubMed ID: 9152844
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age.
    Ginsburg C; Fokstuen S; Schinzel A
    Am J Med Genet; 2000 Dec; 95(5):454-60. PubMed ID: 11146466
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome.
    Saitoh S; Wada T; Okajima M; Takano K; Sudo A; Niikawa N
    Brain Dev; 2005 Aug; 27(5):389-91. PubMed ID: 16023557
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q.
    Fridman C; Varela MC; Nicholls RD; Koiffmann CP
    Clin Genet; 1998 Oct; 54(4):303-8. PubMed ID: 9831341
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.
    Smith A; Wiles C; Haan E; McGill J; Wallace G; Dixon J; Selby R; Colley A; Marks R; Trent RJ
    J Med Genet; 1996 Feb; 33(2):107-12. PubMed ID: 8929945
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Normal growth in Angelman syndrome due to paternal UPD.
    Smith A; Robson L; Buchholz B
    Clin Genet; 1998 Mar; 53(3):223-5. PubMed ID: 9630080
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Distinct phenotypes distinguish the molecular classes of Angelman syndrome.
    Lossie AC; Whitney MM; Amidon D; Dong HJ; Chen P; Theriaque D; Hutson A; Nicholls RD; Zori RT; Williams CA; Driscoll DJ
    J Med Genet; 2001 Dec; 38(12):834-45. PubMed ID: 11748306
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?
    Bottani A; Robinson WP; DeLozier-Blanchet CD; Engel E; Morris MA; Schmitt B; Thun-Hohenstein L; Schinzel A
    Am J Med Genet; 1994 May; 51(1):35-40. PubMed ID: 8030667
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome.
    Nicholls RD; Pai GS; Gottlieb W; CantĂș ES
    Ann Neurol; 1992 Oct; 32(4):512-8. PubMed ID: 1360787
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects.
    Brennan ML; Adam MP; Seaver LH; Myers A; Schelley S; Zadeh N; Hudgins L; Bernstein JA
    Am J Med Genet A; 2015 Jan; 167A(1):142-6. PubMed ID: 25402239
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Atypical cases of Angelman syndrome.
    Lawson-Yuen A; Wu BL; Lip V; Sahoo T; Kimonis V
    Am J Med Genet A; 2006 Nov; 140(21):2361-4. PubMed ID: 17036311
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients.
    Fridman C; Varela MC; Kok F; Diament A; Koiffmann CP
    Am J Med Genet; 2000 Jun; 92(5):322-7. PubMed ID: 10861661
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning.
    Gomez DA; Bird LM; Fleischer N; Abdul-Rahman OA
    Am J Med Genet A; 2020 Sep; 182(9):2021-2026. PubMed ID: 32524756
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome.
    Zhang K; Liu S; Feng B; Yang Y; Zhang H; Dong R; Liu Y; Gai Z
    PLoS One; 2016; 11(2):e0147824. PubMed ID: 26841067
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Manifestations in institutionalised adults with Angelman syndrome due to deletion.
    Sandanam T; Beange H; Robson L; Woolnough H; Buchholz T; Smith A
    Am J Med Genet; 1997 Jun; 70(4):415-20. PubMed ID: 9182785
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.
    Ueda K; Ogawa S; Matsuda K; Hasegawa Y; Nishi E; Yanagi K; Kaname T; Yamamoto T; Okamoto N
    Am J Med Genet A; 2021 Oct; 185(10):3092-3098. PubMed ID: 34042275
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Angelman syndrome due to a novel splicing mutation of the UBE3A gene.
    Sartori S; Anesi L; Polli R; Toldo I; Casarin A; Drigo P; Murgia A
    J Child Neurol; 2008 Aug; 23(8):912-5. PubMed ID: 18487518
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Angelman syndrome: uniparental paternal disomy 15 determines mild epilepsy, but has no influence on EEG patterns.
    Valente KD; Fridman C; Varela MC; Koiffmann CP; Andrade JQ; Grossmann RM; Kok F; Marques-Dias MJ
    Epilepsy Res; 2005 Dec; 67(3):163-8. PubMed ID: 16226874
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling.
    Moncla A; Malzac P; Livet MO; Voelckel MA; Mancini J; Delaroziere JC; Philip N; Mattei JF
    J Med Genet; 1999 Jul; 36(7):554-60. PubMed ID: 10424818
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.