BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

152 related articles for article (PubMed ID: 29541160)

  • 1. Parental origin of deletions and duplications - about the necessity to check for cryptic inversions.
    Liehr T; Schreyer I; Kuechler A; Manolakos E; Singer S; Dufke A; Wilhelm K; Jančušková T; Čmejla R; Othman MAK; Al-Rikabi AH; Mrasek K; Ziegler M; Kankel S; Kreskowski K; Weise A
    Mol Cytogenet; 2018; 11():20. PubMed ID: 29541160
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay.
    Wayhelova M; Smetana J; Vallova V; Hladilkova E; Filkova H; Hanakova M; Vilemova M; Nikolova P; Gromesova B; Gaillyova R; Kuglik P
    BMC Med Genomics; 2019 Jul; 12(1):111. PubMed ID: 31337399
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The use of array-CGH in a cohort of Greek children with developmental delay.
    Manolakos E; Vetro A; Kefalas K; Rapti SM; Louizou E; Garas A; Kitsos G; Vasileiadis L; Tsoplou P; Eleftheriades M; Peitsidis P; Orru S; Liehr T; Petersen MB; Thomaidis L
    Mol Cytogenet; 2010 Nov; 3():22. PubMed ID: 21062444
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Clinical phenotypes and copy number variations in children with microdeletion and microduplication syndromes: an analysis of 50 cases].
    Zhang LN; Meng Z; He ZW; Li DF; Luo XY; Liang LY
    Zhongguo Dang Dai Er Ke Za Zhi; 2016 Sep; 18(9):840-845. PubMed ID: 27655541
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication.
    Pires R; Pires LM; Vaz SO; Maciel P; Anjos R; Moniz R; Branco CC; Cabral R; Carreira IM; Mota-Vieira L
    BMC Genet; 2014 Nov; 15():115. PubMed ID: 25376777
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A feasible diagnostic approach for the translocation carrier from the indication of products of conception.
    Qian YQ; Fu XY; Wang XQ; Luo YQ; Chen M; Yan K; Yang YM; Liu B; Wang LY; Huang YZ; Li HG; Pan HY; Jin F; Dong MY
    Mol Cytogenet; 2018; 11():12. PubMed ID: 29422950
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Influence of validating the parental origin on the clinical interpretation of fetal copy number variations in 141 core family cases.
    Shi P; Li R; Wang C; Kong X
    Mol Genet Genomic Med; 2019 Oct; 7(10):e00944. PubMed ID: 31475483
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies.
    Ma R; Deng L; Xia Y; Wei X; Cao Y; Guo R; Zhang R; Guo J; Liang D; Wu L
    Sci Rep; 2017 Mar; 7():44446. PubMed ID: 28322228
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Application of BAC-probes to visualize copy number variants (CNVs).
    Weise A; Othman MA; Bhatt S; Löhmer S; Liehr T
    Methods Mol Biol; 2015; 1227():299-307. PubMed ID: 25239754
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4.
    Cotter PD; Kaffe S; Li L; Gershin IF; Hirschhorn K
    Am J Med Genet; 2001 Jul; 102(1):76-80. PubMed ID: 11471177
    [TBL] [Abstract][Full Text] [Related]  

  • 11. De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay.
    Lin DS; Chuang TP; Chiang MF; Ho CS; Hsiao CD; Huang YW; Wu TY; Wu JY; Chen YT; Chen TC; Li LH
    Gene; 2014 Jan; 533(1):78-85. PubMed ID: 24129071
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Identification of cryptic structural chromosomal aberrations in parents through detection of copy number variations in miscarriage tissues].
    Zhao Y; Pang H; Guo S; Cheng Z; Sun J; Lan C; Zhao Y; Sun R; Zhang M; Fan T; Yan X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Nov; 36(11):1123-1126. PubMed ID: 31703141
    [TBL] [Abstract][Full Text] [Related]  

  • 13. De novo copy number variants and parental age: Is there an association?
    Wadhawan I; Hai Y; Foyouzi Yousefi N; Guo X; Graham JM; Rosenfeld JA
    Eur J Med Genet; 2020 Apr; 63(4):103829. PubMed ID: 31883480
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.
    Duyzend MH; Nuttle X; Coe BP; Baker C; Nickerson DA; Bernier R; Eichler EE
    Am J Hum Genet; 2016 Jan; 98(1):45-57. PubMed ID: 26749307
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Clinical and parental age characteristics of rare copy number variant burden in patients with schizophrenia.
    Martin AK; Robinson G; Reutens D; Mowry B
    Am J Med Genet B Neuropsychiatr Genet; 2015 Jul; 168B(5):374-82. PubMed ID: 25943776
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders.
    Mosley TJ; Johnston HR; Cutler DJ; Zwick ME; Mulle JG
    BMC Med Genomics; 2021 Jun; 14(1):154. PubMed ID: 34107974
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Pseudoautosomal abnormalities in terminal AZFb+c deletions are associated with isochromosomes Yp and may lead to abnormal growth and neuropsychiatric function.
    Castro A; Rodríguez F; Flórez M; López P; Curotto B; Martínez D; Maturana A; Lardone MC; Palma C; Mericq V; Ebensperger M; Cassorla F
    Hum Reprod; 2017 Feb; 32(2):465-475. PubMed ID: 28057878
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Concordance rate between copy number variants detected using either high- or medium-density single nucleotide polymorphism genotype panels and the potential of imputing copy number variants from flanking high density single nucleotide polymorphism haplotypes in cattle.
    Rafter P; Gormley IC; Parnell AC; Kearney JF; Berry DP
    BMC Genomics; 2020 Mar; 21(1):205. PubMed ID: 32131735
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Parental imbalances involving chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspring.
    Capra V; Mascelli S; Garrè ML; Nozza P; Vaccari C; Bricco L; Sloan-Béna F; Gimelli S; Cuoco C; Gimelli G; Tassano E
    PLoS One; 2013; 8(3):e57910. PubMed ID: 23483941
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.