BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

173 related articles for article (PubMed ID: 16835934)

  • 1. Mosaic ring 20 with no detectable deletion by FISH analysis: Characteristic seizure disorder and literature review.
    Zou YS; Van Dyke DL; Thorland EC; Chhabra HS; Michels VV; Keefe JG; Lega MA; Feely MA; Uphoff TS; Jalal SM
    Am J Med Genet A; 2006 Aug; 140(15):1696-706. PubMed ID: 16835934
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Ring chromosome 20 syndrome without deletions of the subtelomeric and CHRNA4--KCNQ2 genes loci.
    Elghezal H; Hannachi H; Mougou S; Kammoun H; Triki C; Saad A
    Eur J Med Genet; 2007; 50(6):441-5. PubMed ID: 17851150
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Ring chromosome 20.
    Daber RD; Conlin LK; Leonard LD; Canevini MP; Vignoli A; Hosain S; Brown LW; Spinner NB
    Eur J Med Genet; 2012 May; 55(5):381-7. PubMed ID: 22406087
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature.
    Unterberger I; Dobesberger J; Schober H; Krabichler B; Lamina C; Schatz U; Zschocke J; Luef G; Kotzot D; Fauth C
    Eur J Med Genet; 2019 Nov; 62(11):103564. PubMed ID: 30385235
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genetic investigations on 8 patients affected by ring 20 chromosome syndrome.
    Giardino D; Vignoli A; Ballarati L; Recalcati MP; Russo S; Camporeale N; Marchi M; Finelli P; Accorsi P; Giordano L; La Briola F; Chiesa V; Canevini MP; Larizza L
    BMC Med Genet; 2010 Oct; 11():146. PubMed ID: 20939888
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Frontal motor seizure following non-convulsive status epilepticus in ring chromosome 20 syndrome.
    Kamoun FF; Ellouz EJ; Hsairi IG; Triki CC
    Neurosciences (Riyadh); 2012 Jan; 17(1):74-7. PubMed ID: 22246017
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Ring chromosome 17 epilepsy may resemble that of ring chromosome 20 syndrome.
    Ricard-Mousnier B; N'Guyen S; Dubas F; Pouplard F; Guichet A
    Epileptic Disord; 2007 Sep; 9(3):327-31. PubMed ID: 17884758
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Ring chromosome 20 with loss of telomeric sequences detected by multicolour PRINS.
    Brandt CA; Kierkegaard O; Hindkjaer J; Jensen PK; Pedersen S; Therkelsen AJ
    Clin Genet; 1993 Jul; 44(1):26-31. PubMed ID: 8403451
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Ring chromosome 20 syndrome: electroclinical description of six patients and review of the literature.
    Elens I; Vanrykel K; De Waele L; Jansen K; Segeren M; Van Paesschen W; Ceulemans B; Boel M; Frijns JP; Buyse G; Lagae L
    Epilepsy Behav; 2012 Apr; 23(4):409-14. PubMed ID: 22424860
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Ring-20-syndrome and loss of telomeric regions.
    García-Cruz D; Vásquez AI; Perez-Rulfo D; Dávalos NO; Peñaloza J; García-Ortiz JE; Patiño-García B; Sánchez-Corona J
    Ann Genet; 2000; 43(3-4):113-6. PubMed ID: 11164191
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients.
    Conlin LK; Kramer W; Hutchinson AL; Li X; Riethman H; Hakonarson H; Mulley JC; Scheffer IE; Berkovic SF; Hosain SA; Spinner NB
    J Med Genet; 2011 Jan; 48(1):1-9. PubMed ID: 20972251
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.
    Rossi E; Riegel M; Messa J; Gimelli S; Maraschio P; Ciccone R; Stroppi M; Riva P; Perrotta CS; Mattina T; Memo L; Baumer A; Kucinskas V; Castellan C; Schinzel A; Zuffardi O
    J Med Genet; 2008 Mar; 45(3):147-54. PubMed ID: 18006671
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability.
    Pezzolo A; Gimelli G; Cohen A; Lavaggetto A; Romano C; Fogu G; Zuffardi O
    Hum Genet; 1993 Aug; 92(1):23-7. PubMed ID: 8365723
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Ring chromosome 20: an epileptic channel disorder?].
    Serrano-Castro PJ; Aguilar-Castillo MJ; Olivares-Romero J; Jiménez-Machado R; Molina-Aparicio MJ
    Rev Neurol; 2001 Feb 1-15; 32(3):237-41. PubMed ID: 11310277
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern.
    Canevini MP; Sgro V; Zuffardi O; Canger R; Carrozzo R; Rossi E; Ledbetter D; Minicucci F; Vignoli A; Piazzini A; Guidolin L; Saltarelli A; dalla Bernardina B
    Epilepsia; 1998 Sep; 39(9):942-51. PubMed ID: 9738673
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Ring Chromosome 9 and Chromosome 9p Deletion Syndrome in a Patient Associated with Developmental Delay: A Case Report and Review of the Literature.
    Sivasankaran A; Kanakavalli MK; Anuradha D; Samuel CR; Kandukuri LR
    Cytogenet Genome Res; 2016; 148(2-3):165-73. PubMed ID: 27222354
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Malignant refractory epilepsy in identical twins mosaic for a supernumerary ring chromosome 19.
    Shahwan A; Green AJ; Carey A; Stallings RL; O'Flaherty OC; King MD
    Epilepsia; 2004 Aug; 45(8):997-1000. PubMed ID: 15270770
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization.
    van Langen IM; Otter MA; Aronson DC; Overweg-Plandsoen WC; Hennekam RC; Leschot NJ; Hoovers JM
    Clin Genet; 1996 Jan; 49(1):49-53. PubMed ID: 8721573
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Polymorphic expression of epilepsy and cognitive impairment in ring chromosome 20 syndrome].
    Villéga F; Ngayap H; Espil-Taris C; Husson M; Rooryck-Thambo C; Arveiler B; Lacombe D; Pédespan JM
    Arch Pediatr; 2011 Apr; 18(4):394-6. PubMed ID: 21397468
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Frequency of chromosome healing and interstitial telomeres in 40 cases of constitutional abnormalities.
    Fortin F; Beaulieu Bergeron M; Fetni R; Lemieux N
    Cytogenet Genome Res; 2009; 125(3):176-85. PubMed ID: 19738378
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.