BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

625 related articles for article (PubMed ID: 17028391)

  • 1. [Cytogenetic-molecular analysis of balanced chromosomal rearrangements in nine patients with intellectual disability, dysmorphic features and congenital abnormalities].
    Borg K; Bocian E; Stankiewicz P; Obersztyn E; Kruczek A; Nowakowska B; Ilnicka A; Mazurczak T
    Med Wieku Rozwoj; 2006; 10(1 Pt 2):227-46. PubMed ID: 17028391
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Balanced chromosomal rearrangements resulting in intellectual disability. An analysis of 22 cases with application of CGH and FISH methods].
    Borg K; Bocian E; Bernaciak J; Nowakowska B; Derwińska K; Obersztyn E; Szczałuba K; Smigiel R; Kostyk E; Mazurczak T
    Med Wieku Rozwoj; 2009; 13(2):81-93. PubMed ID: 19837989
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation.
    Borg K; Stankiewicz P; Bocian E; Kruczek A; Obersztyn E; Lupski JR; Mazurczak T
    Hum Genet; 2005 Nov; 118(2):267-75. PubMed ID: 16160854
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations.
    Schluth-Bolard C; Labalme A; Cordier MP; Till M; Nadeau G; Tevissen H; Lesca G; Boutry-Kryza N; Rossignol S; Rocas D; Dubruc E; Edery P; Sanlaville D
    J Med Genet; 2013 Mar; 50(3):144-50. PubMed ID: 23315544
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A 5q12.1-5q12.3 microdeletion in a case with a balanced exceptional complex chromosomal rearrangement.
    Cetin Z; Yakut S; Clark OA; Mihci E; Berker S; Luleci G
    Gene; 2013 Mar; 516(1):176-80. PubMed ID: 23262338
    [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. De novo unbalanced translocation 2;4 characterized by metaphase CGH and array CGH in a child with mental retardation and dysmorphic features.
    Debost-Legrand A; Capri Y; Gouas L; Pebrel-Richard C; Veronese L; Tchirkov A; Haoud K; Boespflug-Tanguy O; Goumy C; Vago P
    Pathol Biol (Paris); 2011 Dec; 59(6):309-13. PubMed ID: 21145667
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Subtelomeric chromosome rearrangements in children with idiopathic mental retardation: applicability of three molecular-cytogenetic methods.
    Erjavec-Skerget A; Stangler-Herodez S; Zagorac A; Zagradisnik B; Kokalj-Vokac N
    Croat Med J; 2006 Dec; 47(6):841-50. PubMed ID: 17167856
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.
    Schluth-Bolard C; Delobel B; Sanlaville D; Boute O; Cuisset JM; Sukno S; Labalme A; Duban-Bedu B; Plessis G; Jaillard S; Dubourg C; Henry C; Lucas J; Odent S; Pasquier L; Copin H; Latour P; Cordier MP; Nadeau G; Till M; Edery P; Andrieux J
    Eur J Med Genet; 2009; 52(5):291-6. PubMed ID: 19505601
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation.
    Erdogan F; Chen W; Kirchhoff M; Kalscheuer VM; Hultschig C; Müller I; Schulz R; Menzel C; Bryndorf T; Ropers HH; Ullmann R
    Cytogenet Genome Res; 2006; 115(3-4):247-53. PubMed ID: 17124407
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.
    Gijsbers AC; Bosch CA; Dauwerse JG; Giromus O; Hansson K; Hilhorst-Hofstee Y; Kriek M; van Haeringen A; Bijlsma EK; Bakker E; Breuning MH; Ruivenkamp CA
    Eur J Med Genet; 2010; 53(5):227-33. PubMed ID: 20542150
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes.
    Gribble SM; Prigmore E; Burford DC; Porter KM; Ng BL; Douglas EJ; Fiegler H; Carr P; Kalaitzopoulos D; Clegg S; Sandstrom R; Temple IK; Youings SA; Thomas NS; Dennis NR; Jacobs PA; Crolla JA; Carter NP
    J Med Genet; 2005 Jan; 42(1):8-16. PubMed ID: 15635069
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features.
    Haddad MR; Mignon-Ravix C; Cacciagli P; Mégarbané A; Villard L
    Eur J Med Genet; 2009; 52(4):211-7. PubMed ID: 19379847
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features.
    Bogdanowicz J; Pawłowska B; Ilnicka A; Gawlik-Zawiślak S; Jóźwiak A; Sobiczewska B; Zdzienicka E; Korniszewski L; Zaremba J
    J Appl Genet; 2010; 51(2):215-7. PubMed ID: 20453310
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation].
    Szabó GP; Bessenyei B; Balogh E; Ujfalusi A; Szakszon K; Oláh E
    Orv Hetil; 2010 Jul; 151(27):1091-8. PubMed ID: 20558358
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development.
    Schwarzbraun T; Ullmann R; Schubert M; Ledinegg M; Ofner L; Windpassinger C; Wagner K; Kroisel PM; Petek E
    Cytogenet Genome Res; 2006; 115(1):84-9. PubMed ID: 16974087
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH.
    Tyson C; McGillivray B; Chijiwa C; Rajcan-Separovic E
    Am J Med Genet A; 2004 Sep; 129A(3):254-60. PubMed ID: 15326624
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 32.