BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

363 related articles for article (PubMed ID: 14556246)

  • 21. The contribution of GTF2I haploinsufficiency to Williams syndrome.
    Chailangkarn T; Noree C; Muotri AR
    Mol Cell Probes; 2018 Aug; 40():45-51. PubMed ID: 29305905
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23.
    Hirota H; Matsuoka R; Chen XN; Salandanan LS; Lincoln A; Rose FE; Sunahara M; Osawa M; Bellugi U; Korenberg JR
    Genet Med; 2003; 5(4):311-21. PubMed ID: 12865760
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. Defining the social phenotype in Williams syndrome: a model for linking gene, the brain, and behavior.
    Järvinen-Pasley A; Bellugi U; Reilly J; Mills DL; Galaburda A; Reiss AL; Korenberg JR
    Dev Psychopathol; 2008; 20(1):1-35. PubMed ID: 18211726
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [Genotype and phenotype analysis of two patients with Williams syndrome].
    Zhu H; Ji C; Zhang H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Feb; 33(1):68-70. PubMed ID: 26829738
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability.
    Pinelli M; Terrone G; Troglio F; Squeo GM; Cappuccio G; Imperati F; Pignataro P; Genesio R; Nitch L; Del Giudice E; Merla G; Testa G; Brunetti-Pierri N
    Clin Genet; 2020 Jun; 97(6):940-942. PubMed ID: 32349160
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.
    Lowery MC; Morris CA; Ewart A; Brothman LJ; Zhu XL; Leonard CO; Carey JC; Keating M; Brothman AR
    Am J Hum Genet; 1995 Jul; 57(1):49-53. PubMed ID: 7611295
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A complete physical contig and partial transcript map of the Williams syndrome critical region.
    Hockenhull EL; Carette MJ; Metcalfe K; Donnai D; Read AP; Tassabehji M
    Genomics; 1999 Jun; 58(2):138-45. PubMed ID: 10366445
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions.
    Sakurai T; Dorr NP; Takahashi N; McInnes LA; Elder GA; Buxbaum JD
    Autism Res; 2011 Feb; 4(1):28-39. PubMed ID: 21328569
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A Common Polymorphism in a Williams Syndrome Gene Predicts Amygdala Reactivity and Extraversion in Healthy Adults.
    Swartz JR; Waller R; Bogdan R; Knodt AR; Sabhlok A; Hyde LW; Hariri AR
    Biol Psychiatry; 2017 Feb; 81(3):203-210. PubMed ID: 26853120
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.
    Ewart AK; Morris CA; Atkinson D; Jin W; Sternes K; Spallone P; Stock AD; Leppert M; Keating MT
    Nat Genet; 1993 Sep; 5(1):11-6. PubMed ID: 7693128
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Disparities in visuo-spatial constructive abilities in Williams syndrome patients with typical deletion on chromosome 7q11.23.
    Muramatsu Y; Tokita Y; Mizuno S; Nakamura M
    Brain Dev; 2017 Feb; 39(2):145-153. PubMed ID: 27692871
    [TBL] [Abstract][Full Text] [Related]  

  • 35. [Williams syndrome without cardiovascular abnormalities].
    Cincinnati P; Genuardi M; Rutiloni C
    Minerva Pediatr; 1998 Nov; 50(11):467-71. PubMed ID: 10207296
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.
    Fusco C; Micale L; Augello B; Teresa Pellico M; Menghini D; Alfieri P; Cristina Digilio M; Mandriani B; Carella M; Palumbo O; Vicari S; Merla G
    Eur J Hum Genet; 2014 Jan; 22(1):64-70. PubMed ID: 23756441
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients.
    Ferrero GB; Biamino E; Sorasio L; Banaudi E; Peruzzi L; Forzano S; di Cantogno LV; Silengo MC
    Eur J Med Genet; 2007; 50(5):327-37. PubMed ID: 17625998
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Microdeletion oe chromosomal region 7Q11.23 in Williams syndrome.
    Hou JW; Wang JK; Wang TR
    J Formos Med Assoc; 1997 Feb; 96(2):137-40. PubMed ID: 9071842
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 19.