132 related articles for article (PubMed ID: 18424204)
1. Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype.
Borsani G; Piovani G; Zoppi N; Bertini V; Bini R; Notarangelo L; Barlati S
Eur J Med Genet; 2008; 51(4):292-302. PubMed ID: 18424204
[TBL] [Abstract][Full Text] [Related]
2. Functional characterisation of human cells harbouring a novel t(2p;7p) translocation involving TNS3 and EXOC6B genes.
Ludwig D; Carter J; Smith JR; Borsani G; Barlati S; Hafizi S
BMC Med Genet; 2013 Jun; 14():65. PubMed ID: 23809228
[TBL] [Abstract][Full Text] [Related]
3. Novel TNS3-MAP3K3 and ZFPM2-ELF5 fusion genes identified by RNA sequencing in multicystic mesothelioma with t(7;17)(p12;q23) and t(8;11)(q23;p13).
Panagopoulos I; Gorunova L; Davidson B; Heim S
Cancer Lett; 2015 Feb; 357(2):502-9. PubMed ID: 25484136
[TBL] [Abstract][Full Text] [Related]
4. Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
Evers C; Maas B; Koch KA; Jauch A; Janssen JW; Sutter C; Parker MJ; Hinderhofer K; Moog U
Am J Med Genet A; 2014 Dec; 164A(12):3088-94. PubMed ID: 25256811
[TBL] [Abstract][Full Text] [Related]
5. Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
Frühmesser A; Blake J; Haberlandt E; Baying B; Raeder B; Runz H; Spreiz A; Fauth C; Benes V; Utermann G; Zschocke J; Kotzot D
Eur J Hum Genet; 2013 Oct; 21(10):1177-80. PubMed ID: 23422942
[TBL] [Abstract][Full Text] [Related]
6. Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2.
Wen J; Lopes F; Soares G; Farrell SA; Nelson C; Qiao Y; Martell S; Badukke C; Bessa C; Ylstra B; Lewis S; Isoherranen N; Maciel P; Rajcan-Separovic E
Orphanet J Rare Dis; 2013 Jul; 8():100. PubMed ID: 23837398
[TBL] [Abstract][Full Text] [Related]
7. A report of a patient with duplication of 7p13-->pter and deletion of 2p23-->pter due to a maternal 2p;7p translocation.
Türköver BB; Sayar C; Toksoy G; Elçioğlu N
Turk J Pediatr; 2009; 51(2):174-9. PubMed ID: 19480332
[TBL] [Abstract][Full Text] [Related]
8. Characterization of a recurrent translocation t(2;3)(p15-22;q26) occurring in acute myeloid leukaemia.
Trubia M; Albano F; Cavazzini F; Cambrin GR; Quarta G; Fabbiano F; Ciambelli F; Magro D; Hernandezo JM; Mancini M; Diverio D; Pelicci PG; Coco FL; Mecucci C; Specchia G; Rocchi M; Liso V; Castoldi G; Cuneo A
Leukemia; 2006 Jan; 20(1):48-54. PubMed ID: 16619048
[TBL] [Abstract][Full Text] [Related]
9. De novo t(7;10)(q33;q23) translocation and closely juxtaposed microdeletion in a patient with macrocephaly and developmental delay.
Yue Y; Grossmann B; Holder SE; Haaf T
Hum Genet; 2005 Jun; 117(1):1-8. PubMed ID: 15834588
[TBL] [Abstract][Full Text] [Related]
10. Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis.
Shetty S; Boycott KM; Gillan TL; Bowser K; Parboosingh JS; McInnes B; Chernos JE; Bernier FP
Clin Dysmorphol; 2007 Oct; 16(4):253-6. PubMed ID: 17786117
[TBL] [Abstract][Full Text] [Related]
11. Duplication of 7p21.2-->pter due to maternal 7p;21q translocation: implications for critical segment assignment in the 7p duplication syndrome.
Cai T; Yu P; Tagle DA; Xia J
Am J Med Genet; 1999 Oct; 86(4):305-11. PubMed ID: 10494083
[TBL] [Abstract][Full Text] [Related]
12. A case of de novo translocation 7; 10 and the duplication 7p, deletion 10p phenotype.
Park JP; McDermet MK; Moeschler JB; Wurster-Hill DH
Ann Genet; 1993; 36(4):217-20. PubMed ID: 8166428
[TBL] [Abstract][Full Text] [Related]
13. Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2.
Tegay DH; Chan KK; Leung L; Wang C; Burkett S; Stone G; Stanyon R; Toriello HV; Hatchwell E
Clin Genet; 2009 Mar; 75(3):259-64. PubMed ID: 19170718
[TBL] [Abstract][Full Text] [Related]
14. Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient.
Ballarati L; Recalcati MP; Bedeschi MF; Lalatta F; Valtorta C; Bellini M; Finelli P; Larizza L; Giardino D
Eur J Med Genet; 2009; 52(4):218-23. PubMed ID: 19236961
[TBL] [Abstract][Full Text] [Related]
15. Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1.
Rajcan-Separovic E; Harvard C; Liu X; McGillivray B; Hall JG; Qiao Y; Hurlburt J; Hildebrand J; Mickelson EC; Holden JJ; Lewis ME
J Med Genet; 2007 Apr; 44(4):269-76. PubMed ID: 16963482
[TBL] [Abstract][Full Text] [Related]
16. Complex Rearrangement Involving Three Chromosomes, Four Breakpoints and a 2.7-Mb Deletion in the 18q Segment Observed in a Girl with Mild Learning Difficulties.
Kontodiou M; Daskalakis G; Vetro A; Paspaliaris V; Papaioannou G; Dagklis T; Tsakiridis I; Ziegler M; Liehr T; Thomaidis L; Papoulidis I; Manolakos E
Cytogenet Genome Res; 2015; 147(2-3):118-23. PubMed ID: 26681178
[TBL] [Abstract][Full Text] [Related]
17. Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature.
Brisset S; Joly G; Ozilou C; Lapierre JM; Gosset P; LeLorc'h M; Raoul O; Turleau C; Vekemans M; Romana SP
Am J Med Genet; 2002 Dec; 113(4):339-45. PubMed ID: 12457405
[TBL] [Abstract][Full Text] [Related]
18. A novel cryptic translocation t(12;17)(p13;p12-p13) in a secondary acute myeloid leukemia results in a fusion of the ETV6 gene and the antisense strand of the PER1 gene.
Murga Penas EM; Cools J; Algenstaedt P; Hinz K; Seeger D; Schafhausen P; Schilling G; Marynen P; Hossfeld DK; Dierlamm J
Genes Chromosomes Cancer; 2003 May; 37(1):79-83. PubMed ID: 12661008
[TBL] [Abstract][Full Text] [Related]
19. A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc.
De Marco P; Raso A; Beri S; Gimelli S; Merello E; Mascelli S; Baldi M; Baffico AM; Pavanello M; Cama A; Capra V; Giorda R; Gimelli G
Eur J Med Genet; 2011; 54(5):e478-83. PubMed ID: 21708297
[TBL] [Abstract][Full Text] [Related]
20. Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation.
Fukushi D; Yamada K; Suzuki K; Inaba M; Nomura N; Suzuki Y; Katoh K; Mizuno S; Wakamatsu N
Gene; 2018 May; 655():65-70. PubMed ID: 29477873
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
