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Results: 1 to 20 of 97

Similar articles for PubMed (Select 24393457)

1.

Telomere shortening and telomere position effect in mild ring 17 syndrome.

Surace C, Berardinelli F, Masotti A, Roberti MC, Da Sacco L, D'Elia G, Sirleto P, Digilio MC, Cusmai R, Grotta S, Petrocchi S, El Hachem M, Pisaneschi E, Ciocca L, Russo S, Lepri FR, Sgura A, Angioni A.

Epigenetics Chromatin. 2014 Jan 7;7(1):1. doi: 10.1186/1756-8935-7-1.

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.

Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location.

Surace C, Piazzolla S, Sirleto P, Digilio MC, Roberti MC, Lombardo A, D'Elia G, Tomaiuolo AC, Petrocchi S, Capolino R, El Hachem M, Claps Sepulveda D, Sgura A, Angioni A.

Clin Genet. 2009 Sep;76(3):256-62. doi: 10.1111/j.1399-0004.2009.01203.x.

PMID:
19793054
4.

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. doi: 10.1159/000230002. Epub 2009 Sep 4.

PMID:
19738378
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 12;11:146. doi: 10.1186/1471-2350-11-146.

6.

Mechanisms of ring chromosome formation, ring instability and clinical consequences.

Guilherme RS, Meloni VF, Kim CA, Pellegrino R, Takeno SS, Spinner NB, Conlin LK, Christofolini DM, Kulikowski LD, Melaragno MI.

BMC Med Genet. 2011 Dec 21;12:171. doi: 10.1186/1471-2350-12-171.

7.

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
8.

Position effect modifying gene expression in a patient with ring chromosome 14.

Guilherme RS, Moysés-Oliveira M, Dantas AG, Meloni VA, Colovati ME, Kulikowski LD, Melaragno MI.

J Appl Genet. 2015 Aug 28. [Epub ahead of print]

PMID:
26315457
9.

Breaks at telomeres and TRF2-independent end fusions in Fanconi anemia.

Callén E, Samper E, Ramírez MJ, Creus A, Marcos R, Ortega JJ, Olivé T, Badell I, Blasco MA, Surrallés J.

Hum Mol Genet. 2002 Feb 15;11(4):439-44.

10.

Transmission of ring chromosome 13 from a mother to daughter with both having a 46,XX, r(13)(p13q34) karyotype.

Bedoyan JK, Flore LA, Alkatib A, Ebrahim SA, Bawle EV.

Am J Med Genet A. 2004 Sep 1;129A(3):316-20.

PMID:
15326636
11.
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. Epub 2007 Nov 15.

13.

Further delineation of the chromosome 14q terminal deletion syndrome.

van Karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC.

Am J Med Genet. 2002 Jun 1;110(1):65-72. Review.

PMID:
12116274
14.

Mosaic ring chromosome 13 analyzed by fluorescence in situ hybridization: report of a case.

Hou JW, Liu CH, Wang TR, Zhu HM, Jiang S, Sciorra LJ, Lee ML.

J Formos Med Assoc. 1992 Nov;91(11):1108-11.

PMID:
1363214
15.

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.

PMID:
8365723
16.

Ring 18 molecular assessment and clinical consequences.

Carter E, Heard P, Hasi M, Soileau B, Sebold C, Hale DE, Cody JD.

Am J Med Genet A. 2015 Jan;167A(1):54-63. doi: 10.1002/ajmg.a.36822. Epub 2014 Oct 22.

PMID:
25339348
17.

Anatomy and evolution of telomeric and subtelomeric regions in the human protozoan parasite Trypanosoma cruzi.

Moraes Barros RR, Marini MM, Antônio CR, Cortez DR, Miyake AM, Lima FM, Ruiz JC, Bartholomeu DC, Chiurillo MA, Ramirez JL, da Silveira JF.

BMC Genomics. 2012 Jun 8;13:229. doi: 10.1186/1471-2164-13-229.

18.

Wolf Hirshhorn syndrome in a case of ring chromosome 4: phenotype and molecular cytogenetic findings.

Laleye A, Alao MJ, Adjagba M, Hans C, Delneste D, Gnamey DK, Ayivi B, Darboux RB.

Genet Couns. 2006;17(1):35-40.

PMID:
16719275
19.

Delineation of a ring chromosome 16 by the FISH-technique: a case report with review.

Conte RA, Kleyman SM, Kharode C, Verma RS.

Clin Genet. 1997 Mar;51(3):196-9.

PMID:
9137886
20.

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
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