321 related articles for article (PubMed ID: 19897463)
21. Anxious, hypoactive phenotype combined with motor deficits in Gtf2ird1 null mouse model relevant to Williams syndrome.
Schneider T; Skitt Z; Liu Y; Deacon RM; Flint J; Karmiloff-Smith A; Rawlins JN; Tassabehji M
Behav Brain Res; 2012 Aug; 233(2):458-73. PubMed ID: 22652393
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. 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]
24. Mutation of Gtf2ird1 from the Williams-Beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisations.
Howard ML; Palmer SJ; Taylor KM; Arthurson GJ; Spitzer MW; Du X; Pang TY; Renoir T; Hardeman EC; Hannan AJ
Neurobiol Dis; 2012 Mar; 45(3):913-22. PubMed ID: 22198572
[TBL] [Abstract][Full Text] [Related]
25. An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.
Edelmann L; Prosnitz A; Pardo S; Bhatt J; Cohen N; Lauriat T; Ouchanov L; González PJ; Manghi ER; Bondy P; Esquivel M; Monge S; Delgado MF; Splendore A; Francke U; Burton BK; McInnes LA
J Med Genet; 2007 Feb; 44(2):136-43. PubMed ID: 16971481
[TBL] [Abstract][Full Text] [Related]
26. Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.
Kopp ND; Parrish PCR; Lugo M; Dougherty JD; Kozel BA
Mol Genet Genomic Med; 2018 Sep; 6(5):749-765. PubMed ID: 30008175
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23.
Franke Y; Peoples RJ; Francke U
Cytogenet Cell Genet; 1999; 86(3-4):296-304. PubMed ID: 10575229
[TBL] [Abstract][Full Text] [Related]
29. Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development.
Enkhmandakh B; Makeyev AV; Erdenechimeg L; Ruddle FH; Chimge NO; Tussie-Luna MI; Roy AL; Bayarsaihan D
Proc Natl Acad Sci U S A; 2009 Jan; 106(1):181-6. PubMed ID: 19109438
[TBL] [Abstract][Full Text] [Related]
30. Molecular basis of Williams-Beuren syndrome: TFII-I regulated targets involved in craniofacial development.
Makeyev AV; Bayarsaihan D
Cleft Palate Craniofac J; 2011 Jan; 48(1):109-16. PubMed ID: 20500075
[TBL] [Abstract][Full Text] [Related]
31. The role of GTF2IRD1 in the auditory pathology of Williams-Beuren Syndrome.
Canales CP; Wong AC; Gunning PW; Housley GD; Hardeman EC; Palmer SJ
Eur J Hum Genet; 2015 Jun; 23(6):774-80. PubMed ID: 25248400
[TBL] [Abstract][Full Text] [Related]
32. Global analysis of gene expression in the developing brain of Gtf2ird1 knockout mice.
O'Leary J; Osborne LR
PLoS One; 2011; 6(8):e23868. PubMed ID: 21909369
[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. Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams-Beuren syndrome.
Lugo M; Wong ZC; Billington CJ; Parrish PCR; Muldoon G; Liu D; Pober BR; Kozel BA
Am J Med Genet A; 2020 May; 182(5):1008-1020. PubMed ID: 32077592
[TBL] [Abstract][Full Text] [Related]
35. Functions of Gtf2i and Gtf2ird1 in the developing brain: transcription, DNA binding and long-term behavioral consequences.
Kopp ND; Nygaard KR; Liu Y; McCullough KB; Maloney SE; Gabel HW; Dougherty JD
Hum Mol Genet; 2020 Jun; 29(9):1498-1519. PubMed ID: 32313931
[TBL] [Abstract][Full Text] [Related]
36. Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome.
Doll A; Grzeschik KH
Cytogenet Cell Genet; 2001; 95(1-2):20-7. PubMed ID: 11978965
[TBL] [Abstract][Full Text] [Related]
37. Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams-Beuren Syndrome.
Borralleras C; Sahun I; Pérez-Jurado LA; Campuzano V
Mol Ther; 2015 Nov; 23(11):1691-1699. PubMed ID: 26216516
[TBL] [Abstract][Full Text] [Related]
38. Atypical deletion of Williams-Beuren syndrome reveals the mechanism of neurodevelopmental disorders.
Zhou J; Zheng Y; Liang G; Xu X; Liu J; Chen S; Ge T; Wen P; Zhang Y; Liu X; Zhuang J; Wu Y; Chen J
BMC Med Genomics; 2022 Apr; 15(1):79. PubMed ID: 35379245
[TBL] [Abstract][Full Text] [Related]
39. Molecular and phenotypic characterization of atypical Williams-Beuren syndrome.
Euteneuer J; Carvalho CM; Kulkarni S; Vineyard M; Grady RM; Lupski JR; Shinawi M
Clin Genet; 2014 Nov; 86(5):487-91. PubMed ID: 24246242
[TBL] [Abstract][Full Text] [Related]
40. Chromosomal Microarray Analysis in Taiwanese Patients with Williams-Beuren Syndrome.
Kuo HT; Chen CH; Lin CY; Chang YS; Chang JG
Cytogenet Genome Res; 2019; 159(4):182-189. PubMed ID: 31931504
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
