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Items: 1 to 20 of 114

1.

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. doi: 10.1016/j.ejmg.2012.02.004. Epub 2012 Feb 22. Review.

2.

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 1;140(15):1696-706.

PMID:
16835934
3.

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. doi: 10.1136/jmg.2010.080382. Epub 2010 Oct 23.

PMID:
20972251
4.

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 12;11:146. doi: 10.1186/1471-2350-11-146.

5.

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.

PMID:
15691292
6.

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. doi: 10.1016/j.yebeh.2012.02.008. Epub 2012 Mar 15. Review.

PMID:
22424860
7.

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.

8.

Pallister-Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p.

Yeung A, Francis D, Giouzeppos O, Amor DJ.

Am J Med Genet A. 2009 Mar;149A(3):505-9. doi: 10.1002/ajmg.a.32664.

PMID:
19215037
9.

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 Nov-Dec;50(6):441-5. Epub 2007 Aug 6.

PMID:
17851150
10.

Male with mosaicism for supernumerary ring X chromosome: analysis of phenotype and characterization of genotype using array comparative genome hybridization.

Baker PR, Tsai AC, Springer M, Swisshelm K, March J, Brown K, Bellus G.

J Craniofac Surg. 2010 Sep;21(5):1369-75. doi: 10.1097/SCS.0b013e3181ec6ac0.

PMID:
20856023
11.

Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20.

Guediche N, Brisset S, Benichou JJ, Guérin N, Mabboux P, Maurin ML, Bas C, Laroudie M, Picone O, Goldszmidt D, Prévot S, Labrune P, Tachdjian G.

Am J Med Genet A. 2010 Feb;152A(2):464-71. doi: 10.1002/ajmg.a.33250.

PMID:
20101685
12.

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. Epub 2006 Oct 31.

PMID:
17079116
13.
14.
15.

Identification of supernumerary ring chromosome 1 mosaicism using fluorescence in situ hybridization.

Chen H, Tuck-Muller CM, Batista DA, Wertelecki W.

Am J Med Genet. 1995 Mar 27;56(2):219-33. Review.

PMID:
7625449
16.

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 18;66(3):276-80. Review.

PMID:
8985487
17.

Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication.

Argiropoulos B, Carter M, Brierley K, Hare H, Bouchard A, Al-Hertani W, Ryan SR, Reid J, Basik M, McGowan-Jordan J, Graham GE.

Am J Med Genet A. 2011 Apr;155A(4):885-91. doi: 10.1002/ajmg.a.33918. Epub 2011 Mar 17.

PMID:
21416596
18.

Ring chromosome 6 in three fetuses: case reports, literature review, and implications for prenatal diagnosis.

Urban M, Bommer C, Tennstedt C, Lehmann K, Thiel G, Wegner RD, Bollmann R, Becker R, Schulzke I, Körner H.

Am J Med Genet. 2002 Mar 1;108(2):97-104. Review.

PMID:
11857558
19.

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. doi: 10.1016/j.pediatrneurol.2011.08.006.

PMID:
22000318
20.

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.

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