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 *

632 related articles for article (PubMed ID: 11748306)

  • 1. 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]  

  • 2. 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]  

  • 3. Genotype-Phenotype Correlations in Angelman Syndrome.
    Yang L; Shu X; Mao S; Wang Y; Du X; Zou C
    Genes (Basel); 2021 Jun; 12(7):. PubMed ID: 34203304
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Genotype-phenotype correlation over time in Angelman syndrome: Researching 134 patients.
    Fujimoto M; Nakamura Y; Hosoki K; Iwaki T; Sato E; Ieda D; Hori I; Negishi Y; Hattori A; Shiraishi H; Saitoh S
    HGG Adv; 2024 Oct; 5(4):100342. PubMed ID: 39169619
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Phenotypic differences in Angelman syndrome patients: imprinting mutations show less frequently microcephaly and hypopigmentation than deletions.
    Bürger J; Kunze J; Sperling K; Reis A
    Am J Med Genet; 1996 Dec; 66(2):221-6. PubMed ID: 8958335
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Angelman syndrome: correlations between epilepsy phenotypes and genotypes.
    Minassian BA; DeLorey TM; Olsen RW; Philippart M; Bronstein Y; Zhang Q; Guerrini R; Van Ness P; Livet MO; Delgado-Escueta AV
    Ann Neurol; 1998 Apr; 43(4):485-93. PubMed ID: 9546330
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Neurodevelopmental outcome in Angelman syndrome: genotype-phenotype correlations.
    Mertz LG; Thaulov P; Trillingsgaard A; Christensen R; Vogel I; Hertz JM; Ostergaard JR
    Res Dev Disabil; 2014 Jul; 35(7):1742-7. PubMed ID: 24656292
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Screening of UBE3A gene in patients referred for Angelman Syndrome.
    Tzagkaraki E; Sofocleous C; Fryssira-Kanioura H; Dinopoulos A; Goulielmos G; Mavrou A; Kitsiou-Tzeli S; Kanavakis E
    Eur J Paediatr Neurol; 2013 Jul; 17(4):366-73. PubMed ID: 23416059
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3.
    Jiang YH; Pan Y; Zhu L; Landa L; Yoo J; Spencer C; Lorenzo I; Brilliant M; Noebels J; Beaudet AL
    PLoS One; 2010 Aug; 5(8):e12278. PubMed ID: 20808828
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Angelman syndrome: how many genes to remain silent?
    Rougeulle C; Lalande M
    Neurogenetics; 1998 Aug; 1(4):229-37. PubMed ID: 10732796
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Eating behavior, prenatal and postnatal growth in Angelman syndrome.
    Mertz LG; Christensen R; Vogel I; Hertz JM; Østergaard JR
    Res Dev Disabil; 2014 Nov; 35(11):2681-90. PubMed ID: 25064682
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons.
    Albrecht U; Sutcliffe JS; Cattanach BM; Beechey CV; Armstrong D; Eichele G; Beaudet AL
    Nat Genet; 1997 Sep; 17(1):75-8. PubMed ID: 9288101
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Angelman syndrome due to a termination codon mutation of the UBE3A gene.
    Al-Maawali A; Machado J; Fang P; Dupuis L; Faghfoury H; Mendoza-Londono R
    J Child Neurol; 2013 Mar; 28(3):392-5. PubMed ID: 22566713
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. UBE3A/E6-AP mutations cause Angelman syndrome.
    Kishino T; Lalande M; Wagstaff J
    Nat Genet; 1997 Jan; 15(1):70-3. PubMed ID: 8988171
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 32.