BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

1030 related articles for article (PubMed ID: 19236961)

  • 1. 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]  

  • 2. 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]  

  • 3. De novo balanced complex chromosome rearrangement (CCR) involving chromosome 8, 11 and 16 in a boy with mild developmental delay and psychotic disorder.
    Goumy C; Mihaescu M; Tchirkov A; Giollant M; Benier C; Francannet C; Jaffray JY; Geneix A; Vago P
    Genet Couns; 2006; 17(3):371-9. PubMed ID: 17100206
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Prenatal diagnosis of a de novo complex chromosome rearrangement (CCR) mediated by six breakpoints, and a review of 20 prenatally ascertained CCRs.
    Giardino D; Corti C; Ballarati L; Finelli P; Valtorta C; Botta G; Giudici M; Grosso E; Larizza L
    Prenat Diagn; 2006 Jun; 26(6):565-70. PubMed ID: 16683274
    [TBL] [Abstract][Full Text] [Related]  

  • 6. De novo apparently balanced complex chromosome rearrangement (CCR) involving chromosomes 4, 18, and 21 in a girl with mental retardation: report and review.
    Batanian JR; Eswara MS
    Am J Med Genet; 1998 Jun; 78(1):44-51. PubMed ID: 9637422
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Identification of the breakpoint-flanking markers on chromosomes 1 and 17 of a constitutional translocation T(1;17)(P36;Q12-21) in a patient with neuroblastoma].
    Laureys GG
    Verh K Acad Geneeskd Belg; 1995; 57(5):389-422. PubMed ID: 8571670
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. De novo 16p13.11 microdeletion identified by high-resolution array CGH in a fetus with increased nuchal translucency.
    Law LW; Lau TK; Fung TY; Leung TY; Wang CC; Choy KW
    BJOG; 2009 Jan; 116(2):339-43. PubMed ID: 19018765
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis.
    Shetty S; Boycott KM; Gillan TL; Bowser K; Parboosingh JS; McInnes B; Chernos JE; Bernier FP
    Clin Dysmorphol; 2007 Oct; 16(4):253-6. PubMed ID: 17786117
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Duplication of 11p14.3-p15.1 in a mentally retarded proband and his mother detected by G-banding and confirmed by high-resolution CGH and BAC FISH.
    Wyandt HE; Shim SH; Mark HF; Huang XL; Milunsky JM
    Exp Mol Pathol; 2006 Jun; 80(3):262-6. PubMed ID: 16516886
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation.
    Simovich MJ; Yatsenko SA; Kang SH; Cheung SW; Dudek ME; Pursley A; Ward PA; Patel A; Lupski JR
    Prenat Diagn; 2007 Dec; 27(12):1112-7. PubMed ID: 17849500
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints.
    Vincent JB; Choufani S; Horike S; Stachowiak B; Li M; Dill FJ; Marshall C; Hrynchak M; Pewsey E; Ukadike KC; Friedman JM; Srivastava AK; Scherer SW
    Psychiatr Genet; 2008 Jun; 18(3):101-9. PubMed ID: 18496206
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Prenatal diagnosis of de novo t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34), del(7)(p21.1p21.1), and del(10)(q25.3q25.3) and a review of the prenatally ascertained de novo apparently balanced complex and multiple chromosomal rearrangements.
    Chen CP; Chern SR; Lee CC; Lin CC; Li YC; Hsieh LJ; Chen WL; Wang W
    Prenat Diagn; 2006 Feb; 26(2):138-46. PubMed ID: 16470734
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Prader-Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization.
    Klein OD; Cotter PD; Albertson DG; Pinkel D; Tidyman WE; Moore MW; Rauen KA
    Clin Genet; 2004 Jun; 65(6):477-82. PubMed ID: 15151506
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 52.