BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

307 related articles for article (PubMed ID: 33995479)

  • 1. Systemic Screening for 22q11.2 Copy Number Variations in Hungarian Pediatric and Adult Patients With Congenital Heart Diseases Identified Rare Pathogenic Patterns in the Region.
    Zodanu GKE; Oszlánczi M; Havasi K; Kalapos A; Rácz G; Katona M; Ujfalusi A; Nagy O; Széll M; Nagy D
    Front Genet; 2021; 12():635480. PubMed ID: 33995479
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease.
    Zhang X; Xu Y; Liu D; Geng J; Chen S; Jiang Z; Fu Q; Sun K
    BMC Genomics; 2015 May; 16(1):364. PubMed ID: 25952753
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Analysis of chromosome 22q11 copy number variations by multiplex ligation-dependent probe amplification for prenatal diagnosis of congenital heart defect.
    Zhang J; Ma D; Wang Y; Cao L; Wu Y; Qiao F; Liu A; Li L; Lin Y; Liu G; Liu C; Hu P; Xu Z
    Mol Cytogenet; 2015; 8():100. PubMed ID: 26715944
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases.
    Nagy O; Szakszon K; Biró BO; Mogyorósy G; Nagy D; Nagy B; Balogh I; Ujfalusi A
    J Biotechnol; 2019 Jun; 299():86-95. PubMed ID: 31054299
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects.
    Delea M; Espeche LD; Bruque CD; Bidondo MP; Massara LS; Oliveri J; Brun P; Cosentino VR; Martinoli C; Tolaba N; Picon C; Ponce Zaldua ME; Ávila S; Gutnisky V; Perez M; Furforo L; Buzzalino ND; Liascovich R; Groisman B; Rittler M; Rozental S; Barbero P; Dain L
    Genes (Basel); 2018 Sep; 9(9):. PubMed ID: 30208644
    [TBL] [Abstract][Full Text] [Related]  

  • 6. CNVs in the 22q11.2 Chromosomal Region Should Be an Early Suspect in Infants with Congenital Cardiac Disease.
    Pineda T; Zarante I; Paredes AC; Rozo JP; Reyes MC; Moreno-Niño OM
    Clin Med Insights Cardiol; 2021; 15():11795468211016870. PubMed ID: 34104029
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Analysis of gene copy number variations in patients with congenital heart disease using multiplex ligation-dependent probe amplification.
    Mutlu ET; Aykan HH; Karagöz T
    Anatol J Cardiol; 2018 Jul; 20(1):9-15. PubMed ID: 29952356
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Different Types of Deletions Created by Low-Copy Repeats Sequences Location in 22q11.2 Deletion Syndrome: Genotype-Phenotype Correlation.
    Gavril EC; Popescu R; Nucă I; Ciobanu CG; Butnariu LI; Rusu C; Pânzaru MC
    Genes (Basel); 2022 Nov; 13(11):. PubMed ID: 36360320
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Diagnosis of 22q11 deletion and duplication in congenital heart disease by multiplex ligation dependent probe amplification].
    Yang YH; Hu YL; Zhu XY; Mo XM; Wang DJ; Yao JC; Sheng M; Zhu HY; Li J; Ru T; Wang ZQ
    Zhongguo Dang Dai Er Ke Za Zhi; 2009 Nov; 11(11):892-6. PubMed ID: 20113655
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes.
    D'Angelo CS; Varela MC; de Castro CIe; Kim CA; Bertola DR; Lourenço CM; Perez AB; Koiffmann CP
    Mol Cytogenet; 2014; 7(1):75. PubMed ID: 25411582
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A Pilot Study of Multiplex Ligation-Dependent Probe Amplification Evaluation of Copy Number Variations in Romanian Children with Congenital Heart Defects.
    Bolunduț AC; Nazarie F; Lazea C; Șufană C; Miclea D; Lazăr C; Mihu CM
    Genes (Basel); 2024 Feb; 15(2):. PubMed ID: 38397197
    [TBL] [Abstract][Full Text] [Related]  

  • 13.
    Floriani MA; Glaeser AB; Dorfman LE; Agnes G; Rosa RFM; Zen PRG
    J Pediatr Genet; 2021 Jun; 10(2):92-97. PubMed ID: 33996178
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Copy number variations in the GATA4, NKX2-5, TBX5, BMP4 CRELD1, and 22q11.2 gene regions in Chinese children with sporadic congenital heart disease.
    Li Z; Huang J; Liang B; Zeng D; Luo S; Yan T; Liao F; Huang J; Li J; Cai R; Deng X; Tang N
    J Clin Lab Anal; 2019 Feb; 33(2):e22660. PubMed ID: 30221396
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Detailed analysis of 22q11.2 with a high density MLPA probe set.
    Jalali GR; Vorstman JA; Errami A; Vijzelaar R; Biegel J; Shaikh T; Emanuel BS
    Hum Mutat; 2008 Mar; 29(3):433-40. PubMed ID: 18033723
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Contribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study.
    Lin S; Shi S; Lu J; He Z; Li D; Huang L; Huang X; Zhou Y; Luo Y
    Mol Cytogenet; 2024 Jan; 17(1):2. PubMed ID: 38178226
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genomic imbalances in craniofacial microsomia.
    Spineli-Silva S; Sgardioli IC; Dos Santos AP; Bergamini LL; Monlleó IL; Fontes MIB; Félix TM; Ribeiro EM; Xavier AC; Lustosa-Mendes E; Gil-da-Silva-Lopes VL; Vieira TP
    Am J Med Genet C Semin Med Genet; 2020 Dec; 184(4):970-985. PubMed ID: 33215817
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of Copy Number Variations in Isolated Tetralogy of Fallot.
    Aguayo-Gómez A; Arteaga-Vázquez J; Svyryd Y; Calderón-Colmenero J; Zamora-González C; Vargas-Alarcón G; Mutchinick OM
    Pediatr Cardiol; 2015 Dec; 36(8):1642-6. PubMed ID: 26036351
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Atypical copy number abnormalities in 22q11.2 region: report of three cases.
    Molck MC; Vieira TP; Sgardioli IC; Simioni M; Dos Santos AP; Souza J; Monteiro FP; Gil-da-Silva-Lopes VL
    Eur J Med Genet; 2013 Sep; 56(9):515-20. PubMed ID: 23886712
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: early diagnosis of syndromic patients.
    Sørensen KM; El-Segaier M; Fernlund E; Errami A; Bouvagnet P; Nehme N; Steensberg J; Hjortdal V; Soller M; Behjati M; Werge T; Kirchoff M; Schouten J; Tommerup N; Andersen PS; Larsen LA
    Am J Med Genet A; 2012 Apr; 158A(4):720-5. PubMed ID: 22383218
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.