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 *

152 related articles for article (PubMed ID: 30605843)

  • 1. Establishment of human induced pluripotent stem cell line from a patient with Angelman syndrome carrying the deletion of maternal chromosome 15q11.2-q13.
    Niki T; Imamura K; Enami T; Kinoshita M; Inoue H
    Stem Cell Res; 2019 Jan; 34():101363. PubMed ID: 30605843
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Somatic and germ-line mosaicism of deletion 15q11.2-q13 in a mother of dyzigotic twins with Angelman syndrome.
    Sánchez J; Fernández R; Madruga M; Bernabeu-Wittel J; Antiñolo G; Borrego S
    Am J Med Genet A; 2014 Feb; 164A(2):370-6. PubMed ID: 24311297
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1.
    Germain ND; Chen PF; Plocik AM; Glatt-Deeley H; Brown J; Fink JJ; Bolduc KA; Robinson TM; Levine ES; Reiter LT; Graveley BR; Lalande M; Chamberlain SJ
    Mol Autism; 2014; 5():44. PubMed ID: 25694803
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes.
    Kalsner L; Chamberlain SJ
    Pediatr Clin North Am; 2015 Jun; 62(3):587-606. PubMed ID: 26022164
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.
    Depienne C; Moreno-De-Luca D; Heron D; Bouteiller D; Gennetier A; Delorme R; Chaste P; Siffroi JP; Chantot-Bastaraud S; Benyahia B; Trouillard O; Nygren G; Kopp S; Johansson M; Rastam M; Burglen L; Leguern E; Verloes A; Leboyer M; Brice A; Gillberg C; Betancur C
    Biol Psychiatry; 2009 Aug; 66(4):349-59. PubMed ID: 19278672
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Angelman syndrome-derived neurons display late onset of paternal UBE3A silencing.
    Stanurova J; Neureiter A; Hiber M; de Oliveira Kessler H; Stolp K; Goetzke R; Klein D; Bankfalvi A; Klump H; Steenpass L
    Sci Rep; 2016 Aug; 6():30792. PubMed ID: 27484051
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Angelman syndrome: validation of molecular cytogenetic analysis of chromosome 15q11-q13 for deletion detection.
    White L; Knoll JH
    Am J Med Genet; 1995 Mar; 56(1):101-5. PubMed ID: 7747771
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders.
    LaSalle JM; Reiter LT; Chamberlain SJ
    Epigenomics; 2015 Oct; 7(7):1213-28. PubMed ID: 26585570
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD.
    Bittel DC; Kibiryeva N; Talebizadeh Z; Driscoll DJ; Butler MG
    Genomics; 2005 Jan; 85(1):85-91. PubMed ID: 15607424
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Angelman syndrome in Denmark. birth incidence, genetic findings, and age at diagnosis.
    Mertz LG; Christensen R; Vogel I; Hertz JM; Nielsen KB; Grønskov K; Østergaard JR
    Am J Med Genet A; 2013 Sep; 161A(9):2197-203. PubMed ID: 23913711
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2.
    Kuroda Y; Ohashi I; Saito T; Nagai J; Ida K; Naruto T; Wada T; Kurosawa K
    Am J Med Genet A; 2014 Nov; 164A(11):2873-8. PubMed ID: 25099823
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Angelman syndrome in an inbred family.
    Beuten J; Hennekam RC; Van Roy B; Mangelschots K; Sutcliffe JS; Halley DJ; Hennekam FA; Beaudet AL; Willems PJ
    Hum Genet; 1996 Mar; 97(3):294-8. PubMed ID: 8786067
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).
    Christian SL; Fantes JA; Mewborn SK; Huang B; Ledbetter DH
    Hum Mol Genet; 1999 Jun; 8(6):1025-37. PubMed ID: 10332034
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11-q13.
    Spinner NB; Zackai E; Cheng SD; Knoll JH
    Am J Med Genet; 1995 May; 57(1):61-5. PubMed ID: 7645601
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.