BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

336 related articles for article (PubMed ID: 17194633)

  • 1. Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion.
    Kitsiou-Tzeli S; Sismani C; Ioannides M; Bashiardes S; Ketoni A; Touliatou V; Kolialexi A; Mavrou A; Kanavakis E; Patsalis PC
    Eur J Med Genet; 2007; 50(1):73-8. PubMed ID: 17194633
    [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. Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder.
    Lukusa T; Vermeesch JR; Holvoet M; Fryns JP; Devriendt K
    Genet Couns; 2004; 15(3):293-301. PubMed ID: 15517821
    [TBL] [Abstract][Full Text] [Related]  

  • 4. High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases: ring chromosome 19 and partial duplication 2q.
    Hermsen MA; Tijssen M; Acero IH; Meijer GA; Ylstra B; Toral JF
    Eur J Med Genet; 2005; 48(3):310-8. PubMed ID: 16179226
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).
    Schoumans J; Ruivenkamp C; Holmberg E; Kyllerman M; Anderlid BM; Nordenskjöld M
    J Med Genet; 2005 Sep; 42(9):699-705. PubMed ID: 16141005
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3.
    Delahaye A; Toutain A; Aboura A; Dupont C; Tabet AC; Benzacken B; Elion J; Verloes A; Pipiras E; Drunat S
    Eur J Med Genet; 2009; 52(5):328-32. PubMed ID: 19454329
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Interstitial 6q deletion: clinical and array CGH characterisation of a new patient.
    Le Caignec C; Swillen A; Van Asche E; Fryns JP; Vermeesch JR
    Eur J Med Genet; 2005; 48(3):339-45. PubMed ID: 16179229
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Complex constitutional subtelomeric 1p36.3 deletion/duplication in a mentally retarded child with neonatal neuroblastoma.
    Isidor B; Le Cunff M; Boceno M; Boisseau P; Thomas C; Rival JM; David A; Le Caignec C
    Eur J Med Genet; 2008; 51(6):679-84. PubMed ID: 18672103
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Distal del(4) (q33) syndrome: detailed clinical presentation and molecular description with array-CGH.
    Kitsiou-Tzeli S; Sismani C; Koumbaris G; Ioannides M; Kanavakis E; Kolialexi A; Mavrou A; Touliatou V; Patsalis PC
    Eur J Med Genet; 2008; 51(1):61-7. PubMed ID: 17998173
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.
    Koolen DA; Reardon W; Rosser EM; Lacombe D; Hurst JA; Law CJ; Bongers EM; van Ravenswaaij-Arts CM; Leisink MA; van Kessel AG; Veltman JA; de Vries BB
    Eur J Hum Genet; 2005 Sep; 13(9):1019-24. PubMed ID: 15986041
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genotype-phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the 'association des Cytogénéticiens de langue Française'.
    Béri-Deixheimer M; Gregoire MJ; Toutain A; Brochet K; Briault S; Schaff JL; Leheup B; Jonveaux P
    Eur J Hum Genet; 2007 Apr; 15(4):446-52. PubMed ID: 17290276
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review.
    Courtens W; Wuyts W; Scheers S; Van Luijk R; Reyniers E; Rooms L; Ceulemans B; Kooy F; Wauters J
    Eur J Med Genet; 2006; 49(5):402-13. PubMed ID: 16488200
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review.
    Courtens W; Wauters J; Wojciechowski M; Reyniers E; Scheers S; van Luijk R; Rooms L; Kooy F; Wuyts W
    Clin Dysmorphol; 2007 Oct; 16(4):231-9. PubMed ID: 17786114
    [TBL] [Abstract][Full Text] [Related]  

  • 15. FISH-mapping of a 100-kb terminal 22q13 deletion.
    Anderlid BM; Schoumans J; Annerén G; Tapia-Paez I; Dumanski J; Blennow E; Nordenskjöld M
    Hum Genet; 2002 May; 110(5):439-43. PubMed ID: 12073014
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features.
    Hoffer MJ; Hilhorst-Hofstee Y; Knijnenburg J; Hansson KB; Engelberts AC; Laan LA; Bakker E; Rosenberg C
    Eur J Med Genet; 2007; 50(2):149-54. PubMed ID: 17223398
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Subtelomeric rearrangements of dysmorphic children with idiopathic mental retardation reveal 8 different chromosomal anomalies.
    Mihçi E; Ozcan M; Berker-Karaüzüm S; Keser I; Taçoy S; Hapsolat S; Lüleci G
    Turk J Pediatr; 2009; 51(5):453-9. PubMed ID: 20112600
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay.
    Popp S; Schulze B; Granzow M; Keller M; Holtgreve-Grez H; Schoell B; Brough M; Hager HD; Tariverdian G; Brown J; Kearney L; Jauch A
    Hum Genet; 2002 Jul; 111(1):31-9. PubMed ID: 12136233
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Proximal interstitial 1p36 deletion syndrome: the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2).
    Shimojima K; Páez MT; Kurosawa K; Yamamoto T
    Brain Dev; 2009 Sep; 31(8):629-33. PubMed ID: 18835671
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb.
    Schoumans J; Staaf J; Jönsson G; Rantala J; Zimmer KS; Borg A; Nordenskjöld M; Anderlid BM
    Eur J Med Genet; 2005; 48(3):290-300. PubMed ID: 16179224
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.