BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

504 related articles for article (PubMed ID: 34140529)

  • 1. Williams syndrome.
    Kozel BA; Barak B; Kim CA; Mervis CB; Osborne LR; Porter M; Pober BR
    Nat Rev Dis Primers; 2021 Jun; 7(1):42. PubMed ID: 34140529
    [TBL] [Abstract][Full Text] [Related]  

  • 2. GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.
    Morris CA; Mervis CB; Hobart HH; Gregg RG; Bertrand J; Ensing GJ; Sommer A; Moore CA; Hopkin RJ; Spallone PA; Keating MT; Osborne L; Kimberley KW; Stock AD
    Am J Med Genet A; 2003 Nov; 123A(1):45-59. PubMed ID: 14556246
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Neuropsychological Genotype-Phenotype in Patients with Williams Syndrome with Atypical Deletions: A Systematic Review.
    Serrano-Juárez CA; Prieto-Corona B; Rodríguez-Camacho M; Sandoval-Lira L; Villalva-Sánchez ÁF; Yáñez-Téllez MG; López MFR
    Neuropsychol Rev; 2023 Dec; 33(4):891-911. PubMed ID: 36520254
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile.
    Alesi V; Loddo S; Orlando V; Genovese S; Di Tommaso S; Liambo MT; Pompili D; Ferretti D; Calacci C; Catino G; Falasca R; Dentici ML; Novelli A; Digilio MC; Dallapiccola B
    Am J Med Genet A; 2021 Jan; 185(1):242-249. PubMed ID: 33098373
    [TBL] [Abstract][Full Text] [Related]  

  • 5. An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.
    Ferrero GB; Howald C; Micale L; Biamino E; Augello B; Fusco C; Turturo MG; Forzano S; Reymond A; Merla G
    Eur J Hum Genet; 2010 Jan; 18(1):33-8. PubMed ID: 19568270
    [TBL] [Abstract][Full Text] [Related]  

  • 6. "Everybody in the world is my friend" hypersociability in young children with Williams syndrome.
    Doyle TF; Bellugi U; Korenberg JR; Graham J
    Am J Med Genet A; 2004 Jan; 124A(3):263-73. PubMed ID: 14708099
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome.
    van Hagen JM; van der Geest JN; van der Giessen RS; Lagers-van Haselen GC; Eussen HJ; Gille JJ; Govaerts LC; Wouters CH; de Coo IF; Hoogenraad CC; Koekkoek SK; Frens MA; van Camp N; van der Linden A; Jansweijer MC; Thorgeirsson SS; De Zeeuw CI
    Neurobiol Dis; 2007 Apr; 26(1):112-24. PubMed ID: 17270452
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.
    Tassabehji M; Metcalfe K; Karmiloff-Smith A; Carette MJ; Grant J; Dennis N; Reardon W; Splitt M; Read AP; Donnai D
    Am J Hum Genet; 1999 Jan; 64(1):118-25. PubMed ID: 9915950
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome.
    Delgado LM; Gutierrez M; Augello B; Fusco C; Micale L; Merla G; Pastene EA
    Mol Syndromol; 2013 Mar; 4(3):143-7. PubMed ID: 23653586
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Variability of the cranial and dental phenotype in Williams syndrome.
    Axelsson S
    Swed Dent J Suppl; 2005; (170):3-67. PubMed ID: 15762376
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Gtf2i and Gtf2ird1 mutation do not account for the full phenotypic effect of the Williams syndrome critical region in mouse models.
    Kopp N; McCullough K; Maloney SE; Dougherty JD
    Hum Mol Genet; 2019 Oct; 28(20):3443-3465. PubMed ID: 31418010
    [TBL] [Abstract][Full Text] [Related]  

  • 12. In-depth analysis of spatial cognition in Williams syndrome: A critical assessment of the role of the LIMK1 gene.
    Gray V; Karmiloff-Smith A; Funnell E; Tassabehji M
    Neuropsychologia; 2006; 44(5):679-85. PubMed ID: 16216290
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.
    Wu YQ; Sutton VR; Nickerson E; Lupski JR; Potocki L; Korenberg JR; Greenberg F; Tassabehji M; Shaffer LG
    Am J Med Genet; 1998 Jun; 78(1):82-9. PubMed ID: 9637430
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays.
    Dai L; Bellugi U; Chen XN; Pulst-Korenberg AM; Järvinen-Pasley A; Tirosh-Wagner T; Eis PS; Graham J; Mills D; Searcy Y; Korenberg JR
    Am J Med Genet A; 2009 Mar; 149A(3):302-14. PubMed ID: 19205026
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Williams syndrome: from genotype through to the cognitive phenotype.
    Donnai D; Karmiloff-Smith A
    Am J Med Genet; 2000; 97(2):164-71. PubMed ID: 11180224
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms.
    Brøndum-Nielsen K; Beck B; Gyftodimou J; Hørlyk H; Liljenberg U; Petersen MB; Pedersen W; Petersen MB; Sand A; Skovby F; Stafanger G; Zetterqvist P; Tommerup N
    Hum Genet; 1997 Jan; 99(1):56-61. PubMed ID: 9003495
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome.
    Kippenhan JS; Gregory MD; Nash T; Kohn P; Mervis CB; Eisenberg DP; Garvey MH; Roe K; Morris CA; Kolachana B; Pani AM; Sorcher L; Berman KF
    J Neurodev Disord; 2023 Aug; 15(1):29. PubMed ID: 37633900
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.
    Antonell A; Del Campo M; Magano LF; Kaufmann L; de la Iglesia JM; Gallastegui F; Flores R; Schweigmann U; Fauth C; Kotzot D; Pérez-Jurado LA
    J Med Genet; 2010 May; 47(5):312-20. PubMed ID: 19897463
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mosaic Williams syndrome: A case report.
    Kalantari S; Biagio MD; Valente EM; Rossi E; Sirchia F
    Am J Med Genet A; 2023 Jan; 191(1):249-252. PubMed ID: 36263864
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 26.