These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

155 related articles for article (PubMed ID: 12599198)

  • 1. Screening for cryptic chromosomal abnormalities in patients with mental retardation and dysmorphic facial features using telomere FISH probes.
    Hulley BJ; Hummel M; Wenger SL
    Am J Med Genet A; 2003 Mar; 117A(3):302-3. PubMed ID: 12599198
    [No Abstract]   [Full Text] [Related]  

  • 2. Cryptic chromosomal rearrangement screening in 30 patients with mental retardation and dysmorphic features.
    Rodriguez-Revenga L; Badenas C; Sánchez A; Mallolas J; Carrió A; Pedrinaci S; Barrionuevo JL; Milà M
    Clin Genet; 2004 Jan; 65(1):17-23. PubMed ID: 15032970
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Subtelomeric rearrangements detected by FISH in three of 33 families with idiopathic mental retardation and minor physical anomalies.
    Hélias-Rodzewicz Z; Bocian E; Stankiewicz P; Obersztyn E; Kostyk E; Jakubów-Durska K; Kutkowska-Kaźmierczak A; Mazurczak T
    J Med Genet; 2002 Sep; 39(9):e53. PubMed ID: 12205123
    [No Abstract]   [Full Text] [Related]  

  • 5. 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]  

  • 6. A de novo translocation of chromosomes 1 and 2 in an 18 year old boy with syndromic mental retardation.
    Neetha J; Girisha KM; Gopinath PM; Sekhar MR
    Genet Couns; 2012; 23(4):473-6. PubMed ID: 23431746
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter.
    Sogaard M; Tümer Z; Hjalgrim H; Hahnemann J; Friis B; Ledaal P; Pedersen VF; Baekgaard P; Tommerup N; Cingöz S; Duno M; Brondum-Nielsen K
    BMC Med Genet; 2005 May; 6():21. PubMed ID: 15904506
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. De novo complex chromosome rearrangement: a study of two patients.
    Melo DG; Huber J; Giuliani LR; Mazzucatto LF; Riegel M; Pina-Neto JM
    Genet Couns; 2004; 15(3):303-10. PubMed ID: 15517822
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Subtelomeric fish findings in Turkish patients with idiopathic mental retardation.
    Tos T; Vurucu S; Karkucak M; Kozan S; Gul D; Akin R
    Genet Couns; 2013; 24(3):259-64. PubMed ID: 24341139
    [TBL] [Abstract][Full Text] [Related]  

  • 13. FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes.
    Ballif BC; Kashork CD; Shaffer LG
    Eur J Hum Genet; 2000 Oct; 8(10):764-70. PubMed ID: 11039576
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.
    Yu W; Ballif BC; Kashork CD; Heilstedt HA; Howard LA; Cai WW; White LD; Liu W; Beaudet AL; Bejjani BA; Shaw CA; Shaffer LG
    Hum Mol Genet; 2003 Sep; 12(17):2145-52. PubMed ID: 12915473
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular-cytogenetic detection of a deletion of 1p36.3.
    Giraudeau F; Aubert D; Young I; Horsley S; Knight S; Kearney L; Vergnaud G; Flint J
    J Med Genet; 1997 Apr; 34(4):314-7. PubMed ID: 9138156
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features.
    Kleefstra T; van de Zande G; Merkx G; Mieloo H; Hoovers JM; Smeets D
    Eur J Hum Genet; 2000 Aug; 8(8):637-40. PubMed ID: 10951526
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Subtelomeric rearrangements in idiopathic mental retardation.
    Velagaleti GV; Robinson SS; Rouse BM; Tonk VS; Lockhart LH
    Indian J Pediatr; 2005 Aug; 72(8):679-85. PubMed ID: 16131774
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis.
    Knight SJ; Flint J
    J Med Genet; 2000 Jun; 37(6):401-9. PubMed ID: 10851249
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.