BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 23416622)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Inverted duplications: how many of them are mosaic?
    Pramparo T; Giglio S; Gregato G; de Gregori M; Patricelli MG; Ciccone R; Scappaticci S; Mannino G; Lombardi C; Pirola B; Giorda R; Rocchi M; Zuffardi O
    Eur J Hum Genet; 2004 Sep; 12(9):713-7. PubMed ID: 15266302
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Inverted duplications deletions: underdiagnosed rearrangements??
    Zuffardi O; Bonaglia M; Ciccone R; Giorda R
    Clin Genet; 2009 Jun; 75(6):505-13. PubMed ID: 19508415
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Molecular and cytogenetic characterization of 9p- abnormalities.
    Teebi AS; Gibson L; McGrath J; Meyn MS; Breg WR; Yang-Feng TL
    Am J Med Genet; 1993 May; 46(3):288-92. PubMed ID: 8488873
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Fetoplacental discrepancy involving structural abnormalities of chromosome 8 detected by prenatal diagnosis.
    Soler A; Sánchez A; Carrió A; Badenas C; Milà M; Borrell A
    Prenat Diagn; 2003 Apr; 23(4):319-22. PubMed ID: 12673638
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome.
    Vermeulen SJ; Speleman F; Vanransbeeck L; Verspeet J; Menten B; Verschraegen-Spae MR; Wilde PD; Messiaen L; Michaelis RC; Leroy JG
    Eur J Hum Genet; 2005 Jan; 13(1):52-8. PubMed ID: 15470365
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular characterization of inv dup del(8p): analysis of five cases.
    Shimokawa O; Kurosawa K; Ida T; Harada N; Kondoh T; Miyake N; Yoshiura K; Kishino T; Ohta T; Niikawa N; Matsumoto N
    Am J Med Genet A; 2004 Jul; 128A(2):133-7. PubMed ID: 15214003
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Two mosaic terminal inverted duplications arising post-zygotically: Evidence for possible formation of neo-telomeres.
    Daniel A; St Heaps L; Sylvester D; Diaz S; Peters G
    Cell Chromosome; 2008 Mar; 7():1. PubMed ID: 18331649
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture.
    Ciccone R; Mattina T; Giorda R; Bonaglia MC; Rocchi M; Pramparo T; Zuffardi O
    J Med Genet; 2006 May; 43(5):e19. PubMed ID: 16648372
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Constitutional mosaicism for a chromosome 9 inversion resulting in recombinant aneusomy in an offspring.
    Shapira SK; Orr-Urtreger A; Gagos S; Shaffer LG
    Am J Med Genet; 1997 Apr; 69(4):360-4. PubMed ID: 9098483
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U-type exchange model.
    Leclercq S; Maincent K; Baverel F; Tessier DL; Letourneur F; Lebbar A; Dupont JM
    Am J Med Genet A; 2009 Mar; 149A(3):437-45. PubMed ID: 19206177
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event.
    Vermeesch JR; Thoelen R; Salden I; Raes M; Matthijs G; Fryns JP
    J Med Genet; 2003 Aug; 40(8):e93. PubMed ID: 12920085
    [No Abstract]   [Full Text] [Related]  

  • 19. The inv dup (15) or idic (15) syndrome (Tetrasomy 15q).
    Battaglia A
    Orphanet J Rare Dis; 2008 Nov; 3():30. PubMed ID: 19019226
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mosaic dup (9p) diagnosed by fluorescence in situ hybridization (FISH).
    Petty EM; Gibson LH; Breg WR; Burns JP; Yang-Feng TL
    Am J Med Genet; 1993 Mar; 45(6):770-3. PubMed ID: 8456860
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.