292 related articles for article (PubMed ID: 18006671)
1. 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]
2. Telomere capture as a frequent mechanism for stabilization of the terminal chromosomal deletion associated with inverted duplication.
Yu S; Graf WD
Cytogenet Genome Res; 2010; 129(4):265-74. PubMed ID: 20606397
[TBL] [Abstract][Full Text] [Related]
3. Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion.
Knijnenburg J; van Haeringen A; Hansson KB; Lankester A; Smit MJ; Belfroid RD; Bakker E; Rosenberg C; Tanke HJ; Szuhai K
Eur J Hum Genet; 2007 May; 15(5):548-55. PubMed ID: 17342151
[TBL] [Abstract][Full Text] [Related]
4. 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.
Girirajan S; Williams S; Garbern J; Nowak N; Hatchwell E; Elsea S
Clin Genet; 2007 Jul; 72(1):47-58. PubMed ID: 17594399
[TBL] [Abstract][Full Text] [Related]
5. Unusual 8p inverted duplication deletion with telomere capture from 8q.
Buysse K; Antonacci F; Callewaert B; Loeys B; Fränkel U; Siu V; Mortier G; Speleman F; Menten B
Eur J Med Genet; 2009; 52(1):31-6. PubMed ID: 19041960
[TBL] [Abstract][Full Text] [Related]
6. Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.
Chabchoub E; Rodríguez L; Galán E; Mansilla E; Martínez-Fernandez ML; Martínez-Frías ML; Fryns JP; Vermeesch JR
J Med Genet; 2007 Apr; 44(4):250-6. PubMed ID: 17172463
[TBL] [Abstract][Full Text] [Related]
7. Inv dup del(10q): identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements.
Chen CP; Chen M; Su YN; Huang JP; Ma GC; Chang SP; Chern SR; Chen YT; Su JW; Lee CC; Town DD; Wang W
Taiwan J Obstet Gynecol; 2012 Jun; 51(2):245-52. PubMed ID: 22795102
[TBL] [Abstract][Full Text] [Related]
8. Inv dup(22), del(22)(q11) and r(22) in the father of a child with DiGeorge syndrome.
Bergman A; Blennow E
Eur J Hum Genet; 2000 Oct; 8(10):801-4. PubMed ID: 11039583
[TBL] [Abstract][Full Text] [Related]
9. Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p.
Schlade-Bartusiak K; Tucker T; Safavi H; Livingston J; van Allen MI; Eydoux P; Armstrong L
Eur J Med Genet; 2013 May; 56(5):229-35. PubMed ID: 23416622
[TBL] [Abstract][Full Text] [Related]
10. Fluorescence in situ hybridization and single nucleotide polymorphism of a new case with inv dup del(8p).
Caglayan AO; Engelen JJ; Ghesquiere S; Alofs M; Saatci C; Dundar M
Genet Couns; 2009; 20(4):333-40. PubMed ID: 20162868
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements.
Rowe LR; Lee JY; Rector L; Kaminsky EB; Brothman AR; Martin CL; South ST
J Med Genet; 2009 Oct; 46(10):694-702. PubMed ID: 19293169
[TBL] [Abstract][Full Text] [Related]
13. Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH).
Maas NM; Van Buggenhout G; Hannes F; Thienpont B; Sanlaville D; Kok K; Midro A; Andrieux J; Anderlid BM; Schoumans J; Hordijk R; Devriendt K; Fryns JP; Vermeesch JR
J Med Genet; 2008 Feb; 45(2):71-80. PubMed ID: 17873117
[TBL] [Abstract][Full Text] [Related]
14. Array-based genotype-phenotype correlation in a case of supernumerary ring chromosome 12.
Davidsson J; Collin A; Oreberg M; Gisselsson D
Clin Genet; 2008 Jan; 73(1):44-9. PubMed ID: 18005181
[TBL] [Abstract][Full Text] [Related]
15. High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases: ring chromosome 19 and partial duplication 2q.
Hermsen MA; Tijssen M; Acero IH; Meijer GA; Ylstra B; Toral JF
Eur J Med Genet; 2005; 48(3):310-8. PubMed ID: 16179226
[TBL] [Abstract][Full Text] [Related]
16. Inv dup del(9p): prenatal diagnosis and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization.
Chen CP; Su YN; Chern SR; Hsu CY; Tsai FJ; Wu PC; Lee CC; Chen YT; Lee MS; Wang W
Taiwan J Obstet Gynecol; 2011 Mar; 50(1):67-73. PubMed ID: 21482378
[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. Molecular cytogenetic characterization of the first reported case of an inv dup (4p)(p15.1-pter) with a concomitant 4q35.1-qter deletion and normal parents.
Tassano E; Alpigiani MG; Salvati P; Gimelli S; Lorini R; Gimelli G
Gene; 2012 Dec; 511(2):338-40. PubMed ID: 23031810
[TBL] [Abstract][Full Text] [Related]
19. Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia.
Schneider A; Benzacken B; Guichet A; Verloes A; Bonneau D; Collot N; Dastot-Le-Moal F; Goossens M; Taine L; Landais E; Gaillard D; Doco-Fenzy M
Eur J Hum Genet; 2008 Jun; 16(6):680-7. PubMed ID: 18197200
[TBL] [Abstract][Full Text] [Related]
20. Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization.
Guo WJ; Callif-Daley F; Zapata MC; Miller ME
Am J Med Genet; 1995 Sep; 58(3):230-6. PubMed ID: 8533823
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
