321 related articles for article (PubMed ID: 19897463)
41. Williams-Beuren syndrome: genes and mechanisms.
Francke U
Hum Mol Genet; 1999; 8(10):1947-54. PubMed ID: 10469848
[TBL] [Abstract][Full Text] [Related]
42. Integration of a c-myc transgene results in disruption of the mouse Gtf2ird1 gene, the homologue of the human GTF2IRD1 gene hemizygously deleted in Williams-Beuren syndrome.
Durkin ME; Keck-Waggoner CL; Popescu NC; Thorgeirsson SS
Genomics; 2001 Apr; 73(1):20-7. PubMed ID: 11352562
[TBL] [Abstract][Full Text] [Related]
43. Transcriptome profile in Williams-Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits.
Antonell A; Vilardell M; Pérez Jurado LA
Hum Genet; 2010 Jul; 128(1):27-37. PubMed ID: 20401492
[TBL] [Abstract][Full Text] [Related]
44. [Atypical deletions in Williams-Beuren syndrome].
Ramírez-Velazco A; Domínguez-Quezada MG
Rev Med Inst Mex Seguro Soc; 2017; 55(5):615-620. PubMed ID: 29193944
[TBL] [Abstract][Full Text] [Related]
45. Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s).
Valero MC; de Luis O; Cruces J; Pérez Jurado LA
Genomics; 2000 Oct; 69(1):1-13. PubMed ID: 11013070
[TBL] [Abstract][Full Text] [Related]
46. Genotype-phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams-Beuren syndrome.
Ghaffari M; Tahmasebi Birgani M; Kariminejad R; Saberi A
Ann Hum Genet; 2018 Nov; 82(6):469-476. PubMed ID: 30155880
[TBL] [Abstract][Full Text] [Related]
47. Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.
Dutra RL; Piazzon FB; Zanardo ÉA; Costa TV; Montenegro MM; Novo-Filho GM; Dias AT; Nascimento AM; Kim CA; Kulikowski LD
Am J Med Genet A; 2015 Dec; 167A(12):3197-203. PubMed ID: 26420477
[TBL] [Abstract][Full Text] [Related]
48. 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]
49. Consistent hypersocial behavior in mice carrying a deletion of
Martin LA; Iceberg E; Allaf G
Brain Behav; 2018 Jan; 8(1):e00895. PubMed ID: 29568691
[TBL] [Abstract][Full Text] [Related]
50. Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development.
Palmer SJ; Tay ES; Santucci N; Cuc Bach TT; Hook J; Lemckert FA; Jamieson RV; Gunnning PW; Hardeman EC
Gene Expr Patterns; 2007 Feb; 7(4):396-404. PubMed ID: 17239664
[TBL] [Abstract][Full Text] [Related]
51. 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]
52. 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]
53. Copy number variants at Williams-Beuren syndrome 7q11.23 region.
Merla G; Brunetti-Pierri N; Micale L; Fusco C
Hum Genet; 2010 Jul; 128(1):3-26. PubMed ID: 20437059
[TBL] [Abstract][Full Text] [Related]
54. Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders.
Malenfant P; Liu X; Hudson ML; Qiao Y; Hrynchak M; Riendeau N; Hildebrand MJ; Cohen IL; Chudley AE; Forster-Gibson C; Mickelson EC; Rajcan-Separovic E; Lewis ME; Holden JJ
J Autism Dev Disord; 2012 Jul; 42(7):1459-69. PubMed ID: 22048961
[TBL] [Abstract][Full Text] [Related]
55. Portal hypertension in Williams syndrome: report of two patients.
Casanelles Mdel C; Gil-Fernández JJ; Casero LF; Bengoechea MG; Serrano R; Rañada JM; Jurado LA
Am J Med Genet A; 2003 May; 118A(4):372-6. PubMed ID: 12687671
[TBL] [Abstract][Full Text] [Related]
56. Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome.
Osborne LR; Campbell T; Daradich A; Scherer SW; Tsui LC
Genomics; 1999 Apr; 57(2):279-84. PubMed ID: 10198167
[TBL] [Abstract][Full Text] [Related]
57. A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome.
Tassabehji M; Carette M; Wilmot C; Donnai D; Read AP; Metcalfe K
Eur J Hum Genet; 1999; 7(7):737-47. PubMed ID: 10573005
[TBL] [Abstract][Full Text] [Related]
58. Williams-Beuren syndrome: a model of recurrent genomic mutation.
Pérez Jurado AL
Horm Res; 2003; 59 Suppl 1():106-13. PubMed ID: 12638521
[TBL] [Abstract][Full Text] [Related]
59. Heterozygous deletion of the Williams-Beuren syndrome critical interval in mice recapitulates most features of the human disorder.
Segura-Puimedon M; Sahún I; Velot E; Dubus P; Borralleras C; Rodrigues AJ; Valero MC; Valverde O; Sousa N; Herault Y; Dierssen M; Pérez-Jurado LA; Campuzano V
Hum Mol Genet; 2014 Dec; 23(24):6481-94. PubMed ID: 25027326
[TBL] [Abstract][Full Text] [Related]
60. High-throughput screening identifies histone deacetylase inhibitors that modulate GTF2I expression in 7q11.23 microduplication autism spectrum disorder patient-derived cortical neurons.
Cavallo F; Troglio F; Fagà G; Fancelli D; Shyti R; Trattaro S; Zanella M; D'Agostino G; Hughes JM; Cera MR; Pasi M; Gabriele M; Lazzarin M; Mihailovich M; Kooy F; Rosa A; Mercurio C; Varasi M; Testa G
Mol Autism; 2020 Nov; 11(1):88. PubMed ID: 33208191
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]