These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

123 related articles for article (PubMed ID: 38469782)

  • 1. Development of a Low Cost Semiquantitative Polymerase Chain Reaction Assay for Molecular Diagnosis of Williams Syndrome.
    Ranaweera DM; Silva DC; Samarasinghe D; Perera S; Kugalingam N; Samarasinghe SR; Madushani WY; Jayaweera HHE; Gunewardene S; Muneeswaran K; Gnanam VS; Chandrasekharan NV
    Clin Lab; 2024 Mar; 70(3):. PubMed ID: 38469782
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Detection of a Williams Beuren syndrome case by MLPA].
    Laurito S; Branham T; Herrero G; Marsa S; Garro F; Roqué M
    Medicina (B Aires); 2013; 73(1):47-50. PubMed ID: 23335707
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Clinical aspects and genetics of Williams-Beuren syndrome. Clinical and molecular genetic study of 44 patients with suspected Williams-Beuren syndrome].
    von Beust G; Laccone FA; del Pilar Andrino M; Wessel A
    Klin Padiatr; 2000; 212(6):299-307. PubMed ID: 11190824
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Assessment of clinical scoring systems for the diagnosis of Williams-Beuren syndrome.
    Leme DE; Souza DH; Mercado G; Pastene E; Dias A; Moretti-Ferreira D
    Genet Mol Res; 2013 Sep; 12(3):3407-11. PubMed ID: 24065682
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel dNTP-limited PCR and HRM assay to detect Williams-Beuren syndrome.
    Zhang L; Zhang X; You G; Yu Y; Fu Q
    Clin Chim Acta; 2018 Jun; 481():171-176. PubMed ID: 29550276
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Williams-Beuren syndrome: determination of deletion size using quantitative real-time PCR.
    Schubert C; Laccone F
    Int J Mol Med; 2006 Nov; 18(5):799-806. PubMed ID: 17016608
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.
    Honjo RS; Dutra RL; Furusawa EA; Zanardo EA; Costa LS; Kulikowski LD; Bertola DR; Kim CA
    Biomed Res Int; 2015; 2015():903175. PubMed ID: 26090456
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK.
    Pérez Jurado LA; Wang YK; Peoples R; Coloma A; Cruces J; Francke U
    Hum Mol Genet; 1998 Mar; 7(3):325-34. PubMed ID: 9466987
    [TBL] [Abstract][Full Text] [Related]  

  • 9. FISH analysis in both classical and atypical cases of Williams-Beuren syndrome.
    Hou JW; Wang JK; Wang TR
    Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1998; 39(6):398-403. PubMed ID: 9926515
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH.
    Ramírez-Velazco A; Aguayo-Orozco TA; Figuera L; Rivera H; Jave-Suárez L; Aguilar-Lemarroy A; Torres-Reyes LA; Córdova-Fletes C; Barros-Núñez P; Delgadillo-Pérez S; Dávalos-Rodríguez IP; García-Ortiz JE; Domínguez MG
    J Genet; 2019 Jun; 98(2):. PubMed ID: 31204697
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.
    Masson J; Demily C; Chatron N; Labalme A; Rollat-Farnier PA; Schluth-Bolard C; Gilbert-Dussardier B; Giuliano F; Touraine R; Tordjman S; Verloes A; Testa G; Sanlaville D; Edery P; Lesca G; Rossi M
    Orphanet J Rare Dis; 2019 May; 14(1):121. PubMed ID: 31151468
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Detection of Hemizygous Chromosomal Copy Number Variants in Williams-Beuren Syndrome (WBS) by Duplex Quantitative PCR Array: An Unusual Type of WBS Genetic Defect.
    Etokebe GE; Axelsson S; Svaerd NH; Storhaug K; Dembić Z
    Int J Biomed Sci; 2008 Sep; 4(3):161-70. PubMed ID: 23675084
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical application of chromosomal microarray analysis for the diagnosis of Williams-Beuren syndrome in Chinese Han patients.
    Xia Y; Huang S; Wu Y; Yang Y; Chen S; Li P; Zhuang J
    Mol Genet Genomic Med; 2019 Feb; 7(2):e00517. PubMed ID: 30565396
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.
    Nicita F; Garone G; Spalice A; Savasta S; Striano P; Pantaleoni C; Spartà MV; Kluger G; Capovilla G; Pruna D; Freri E; D'Arrigo S; Verrotti A
    Am J Med Genet A; 2016 Jan; 170A(1):148-55. PubMed ID: 26437767
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema.
    Wojcik MH; Carmichael N; Bieber FR; Wiener DC; Madan R; Pober BR; Raby BA
    Am J Med Genet A; 2017 Aug; 173(8):2235-2239. PubMed ID: 28574231
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23.
    Peoples R; Franke Y; Wang YK; Pérez-Jurado L; Paperna T; Cisco M; Francke U
    Am J Hum Genet; 2000 Jan; 66(1):47-68. PubMed ID: 10631136
    [TBL] [Abstract][Full Text] [Related]  

  • 17. No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control.
    Frohnauer J; Caliebe A; Gesk S; Partsch CJ; Siebert R; Pankau R; Jenderny J
    Mol Cytogenet; 2010 Nov; 3():21. PubMed ID: 21054846
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genome wide array-CGH and qPCR analysis for the identification of genome defects in Williams' syndrome patients in Saudi Arabia.
    Hussein IR; Magbooli A; Huwait E; Chaudhary A; Bader R; Gari M; Ashgan F; Alquaiti M; Abuzenadah A; AlQahtani M
    Mol Cytogenet; 2016; 9():65. PubMed ID: 27525043
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children.
    Scherer SW; Gripp KW; Lucena J; Nicholson L; Bonnefont JP; Pérez-Jurado LA; Osborne LR
    Hum Genet; 2005 Aug; 117(4):383-8. PubMed ID: 15933846
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Williams-Beuren syndrome: diagnosis by polymorphic markers.
    Sbruzzi IC; Pereira AC; Vasconcelos B; Honjo RS; Krieger JE; Kim CA
    Genet Test Mol Biomarkers; 2010 Apr; 14(2):209-14. PubMed ID: 20136526
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.