BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

368 related articles for article (PubMed ID: 14755472)

  • 1. Unbalanced cryptic 5p deletion/17p duplication identified by subtelomeric FISH in a family with a boy with chimerism and a balanced t(4;5).
    Ensenauer R; Jalal S; Meyer R; Babovic-Vuksanovic D
    Am J Med Genet A; 2004 Feb; 125A(1):86-91. PubMed ID: 14755472
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.
    Caliskan MO; Karauzum SB; Mihci E; Tacoy S; Luleci G
    Genet Couns; 2005; 16(2):129-38. PubMed ID: 16080292
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features.
    Hwang KS; Pearson MA; Stankiewicz P; Lennon PA; Cooper ML; Wu J; Ou Z; Cai WW; Patel A; Cheung SW
    Am J Med Genet A; 2005 Aug; 137(1):88-93. PubMed ID: 16015583
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis.
    Battaglia A; Novelli A; Ceccarini C; Carey JC
    Am J Med Genet A; 2006 Jan; 140(2):144-50. PubMed ID: 16353244
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Submicroscopic deletion 9(q34.3) and duplication 19(p13.3): identified by subtelomere specific FISH probes.
    Quigley DI; Kaiser-Rogers K; Aylsworth AS; Rao KW
    Am J Med Genet A; 2004 Feb; 125A(1):67-72. PubMed ID: 14755469
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Multiple fetal anomalies associated with subtle subtelomeric chromosomal rearrangements.
    Souter VL; Glass IA; Chapman DB; Raff ML; Parisi MA; Opheim KE; Disteche CM
    Ultrasound Obstet Gynecol; 2003 Jun; 21(6):609-15. PubMed ID: 12808681
    [TBL] [Abstract][Full Text] [Related]  

  • 7. An unusual reciprocal translocation detected by subtelomeric FISH: interstitial and not terminal.
    Riegel M; Baumer A; Süss J; Schinzel A
    Am J Med Genet A; 2005 May; 135(1):86-90. PubMed ID: 15809996
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.
    Shao L; Shaw CA; Lu XY; Sahoo T; Bacino CA; Lalani SR; Stankiewicz P; Yatsenko SA; Li Y; Neill S; Pursley AN; Chinault AC; Patel A; Beaudet AL; Lupski JR; Cheung SW
    Am J Med Genet A; 2008 Sep; 146A(17):2242-51. PubMed ID: 18663743
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Subtelomeric deletion of 18p in an adult with paranoid schizophrenia and mental retardation.
    Babovic-Vuksanovic D; Jenkins SC; Ensenauer R; Newman DC; Jalal SM
    Am J Med Genet A; 2004 Jan; 124A(3):318-22. PubMed ID: 14708108
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Cryptic subtelomeric translocations in the 22q13 deletion syndrome.
    Praphanphoj V; Goodman BK; Thomas GH; Raymond GV
    J Med Genet; 2000 Jan; 37(1):58-61. PubMed ID: 10633138
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [A de novo partial 5p deletion and cryptic 18p duplication detected by SNP-Array in a boy featuring Cri du Chat syndrome].
    Hu JC; Tan K; Cheng DH; Li LY; Lu GX; Tan YQ
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Feb; 30(1):87-90. PubMed ID: 23450488
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Familial subtelomeric abnormality der(4)t(4p16.3;21q22.3) as a cause of mental retardation and mild dysmorphic features].
    Obersztyn E; Klapecki J; Helias-Rodzewicz Z; Bocian E; Mazurczak T
    Med Wieku Rozwoj; 2006; 10(1 Pt 2):199-209. PubMed ID: 17028389
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes.
    Fan YS; Zhang Y; Speevak M; Farrell S; Jung JH; Siu VM
    Genet Med; 2001; 3(6):416-21. PubMed ID: 11715006
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients.
    Szabó GP; Knegt AC; Ujfalusi A; Balogh E; Szabó T; Oláh É
    Am J Med Genet A; 2012 Apr; 158A(4):869-76. PubMed ID: 22407767
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes.
    Bacino CA; Kashork CD; Davino NA; Shaffer LG
    Am J Med Genet; 2000 Jun; 92(4):250-5. PubMed ID: 10842290
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Subtelomeric analysis detects a familial 10p;12p rearrangement in two relatives with a distinct syndrome.
    Battaglia A; Novelli A; Ceccarini C; Bernardini L; Carey JC
    Am J Med Genet A; 2007 Jan; 143A(2):184-8. PubMed ID: 17163546
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Detection of a cryptic translocation t(13;20)(q34;p13) in an unexplained case of MCA/MR: value of FISH over high resolution banding.
    de Die-Smulders CE; Engelen JJ; Albrechts JC; Hamers GJ
    Am J Med Genet; 1999 Oct; 86(4):385-8. PubMed ID: 10494096
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients.
    Jalal SM; Harwood AR; Sekhon GS; Pham Lorentz C; Ketterling RP; Babovic-Vuksanovic D; Meyer RG; Ensenauer R; Anderson MH; Michels VV
    Genet Med; 2003; 5(1):28-34. PubMed ID: 12544473
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic mental retardation.
    Bocian E; Hélias-Rodzewicz Z; Suchenek K; Obersztyn E; Kutkowska-Kaźmierczak A; Stankiewicz P; Kostyk E; Mazurczak T
    Med Sci Monit; 2004 Apr; 10(4):CR143-51. PubMed ID: 15039644
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.