Detalhe da pesquisa
1.
Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23.
Am J Hum Genet
; 97(2): 216-27, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26166478
2.
Spatial gene expression analysis of neuroanatomical differences in mouse models.
Neuroimage
; 163: 220-230, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28882630
3.
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Am J Hum Genet
; 92(2): 210-20, 2013 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23332918
4.
Duplication of GTF2I results in separation anxiety in mice and humans.
Am J Hum Genet
; 90(6): 1064-70, 2012 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-22578324
5.
7q11.23 Duplication syndrome: Physical characteristics and natural history.
Am J Med Genet A
; 167A(12): 2916-35, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26333794
6.
Children with 7q11.23 duplication syndrome: psychological characteristics.
Am J Med Genet A
; 167(7): 1436-50, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25900101
7.
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.
J Am Heart Assoc
; 13(3): e031377, 2024 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38293922
8.
DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number.
NPJ Genom Med
; 8(1): 25, 2023 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37709781
9.
A novel Phex mutation in a new mouse model of hypophosphatemic rickets.
J Cell Biochem
; 113(7): 2432-41, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22573557
10.
Substrain differences reveal novel disease-modifying gene candidates that alter the clinical course of a rodent model of multiple sclerosis.
J Immunol
; 184(6): 3174-85, 2010 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20173032
11.
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
Am J Hum Genet
; 83(1): 106-11, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18565486
12.
7q11.23 deletion and duplication.
Curr Opin Genet Dev
; 68: 41-48, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33610060
13.
Williams syndrome.
Nat Rev Dis Primers
; 7(1): 42, 2021 06 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34140529
14.
Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype.
Orphanet J Rare Dis
; 16(1): 6, 2021 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33407644
15.
Animal models of Williams syndrome.
Am J Med Genet C Semin Med Genet
; 154C(2): 209-19, 2010 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20425782
16.
Transcription Factor 2I Regulates Neuronal Development via TRPC3 in 7q11.23 Disorder Models.
Mol Neurobiol
; 56(5): 3313-3325, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30120731
17.
Severe expressive-language delay related to duplication of the Williams-Beuren locus.
N Engl J Med
; 353(16): 1694-701, 2005 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-16236740
18.
The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.
Am J Med Genet A
; 146A(14): 1797-806, 2008 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18553513
19.
Modifier locus for exencephaly in Cecr2 mutant mice is syntenic to the 10q25.3 region associated with neural tube defects in humans.
Physiol Genomics
; 31(2): 244-51, 2007 Oct 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-17623803
20.
Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development.
Expert Rev Mol Med
; 9(15): 1-16, 2007 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-17565757