144 related articles for article (PubMed ID: 30385235)
1. 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]
2. 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]
3. More severe epilepsy and cognitive impairment in the offspring of a mother with mosaicism for the ring 20 chromosome.
Herrgård E; Mononen T; Mervaala E; Kuusela L; Aikiä M; Stenbäck U; Pääkkönen L; Airaksinen RL; Kälviäinen R
Epilepsy Res; 2007 Jan; 73(1):122-8. PubMed ID: 17079116
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Supernumerary ring chromosome 20 in a mother and her child.
Pinto MR; Fonseca e Silva ML; Aguiar J; Quelhas I; Lima MR
Am J Med Genet A; 2005 Mar; 133A(2):193-6. PubMed ID: 15666311
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Familial ring (20) chromosomal mosaicism.
Back E; Voiculescu I; Brünger M; Wolff G
Hum Genet; 1989 Sep; 83(2):148-54. PubMed ID: 2777254
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Early pattern of epilepsy in the ring chromosome 20 syndrome.
Ville D; Kaminska A; Bahi-Buisson N; Biraben A; Plouin P; Telvi L; Dulac O; Chiron C
Epilepsia; 2006 Mar; 47(3):543-9. PubMed ID: 16529619
[TBL] [Abstract][Full Text] [Related]
11. Mosaicism and phenotype in ring chromosome 20 syndrome.
Nishiwaki T; Hirano M; Kumazawa M; Ueno S
Acta Neurol Scand; 2005 Mar; 111(3):205-8. PubMed ID: 15691292
[TBL] [Abstract][Full Text] [Related]
12. Ring 20 syndrome mosaicism and epilepsy: a case with duplication of two BAC clones in 20q11.21-q11.22 defined by genome array-CGH.
Cabras V; Erriu M; Loi M; Milia A; Montaldo C; Nucaro AL
J Clin Pathol; 2012 Sep; 65(9):851-3. PubMed ID: 22554962
[No Abstract] [Full Text] [Related]
13. 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]
14. Clinical findings in a patient mosaic for a supernumerary ring chromosome 20.
Austin-Ward ED; Castillo S; Dragnic Y; Sanz P; Salazar S; Knoll JH
Am J Med Genet; 2000 Mar; 91(3):171-4. PubMed ID: 10756336
[TBL] [Abstract][Full Text] [Related]
15. Regarding: 'Mosaicism and seizure onset in ring chromosome 20 syndrome'.
Serrano-Castro PJ; Aguilar Castillo MJ
Acta Neurol Scand; 2005 Sep; 112(3):202; author reply 203. PubMed ID: 16097967
[No Abstract] [Full Text] [Related]
16. New association between ring chromosome 20 syndrome and hypomelanosis of Ito.
Cappanera S; Passamonti C; Zamponi N
Pediatr Neurol; 2011 Nov; 45(5):341-3. PubMed ID: 22000318
[TBL] [Abstract][Full Text] [Related]
17. Five cases of supernumerary small ring chromosomes 1: heterogeneity and genotype-phenotype correlation.
Bernardini L; Capalbo A; D'Avanzo MG; Torrente I; Grammatico P; Dell'Edera D; Cavalcanti DP; Novelli A; Dallapiccola B
Eur J Med Genet; 2007; 50(2):94-102. PubMed ID: 17236832
[TBL] [Abstract][Full Text] [Related]
18. Familial ring (19) chromosome mosaicism: case report and review.
Flejter WL; Finlinson D; Root S; Nguyen W; Brothman AR; Viskochil D
Am J Med Genet; 1996 Dec; 66(3):276-80. PubMed ID: 8985487
[TBL] [Abstract][Full Text] [Related]
19. De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems.
Lo-Castro A; El-Malhany N; Galasso C; Verrotti A; Nardone AM; Postorivo D; Palmieri C; Curatolo P
Eur J Med Genet; 2011; 54(3):329-32. PubMed ID: 21333764
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]