Detalhe da pesquisa
1.
A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8.
J Hum Genet
; 64(4): 271-280, 2019 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-30670789
2.
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
HGG Adv
; 3(3): 100108, 2022 Jul 14.
Artigo
Inglês
| MEDLINE | ID: mdl-35599849
3.
Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2.
Eur J Hum Genet
; 22(4): 458-63, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24045839
4.
Population-based characterization of the genetic landscape of chronic lymphocytic leukemia patients referred for cytogenetic testing in British Columbia, Canada: the role of provincial laboratory standardization.
Cancer Genet
; 207(7-8): 316-25, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-25441686
5.
Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism.
Eur J Med Genet
; 56(8): 420-5, 2013 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-23727450
6.
Copy number variation of the REXO1L1 gene cluster; euchromatic deletion variant or susceptibility factor?
Eur J Hum Genet
; 25(1): 8-9, 2016 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27485411
7.
Understanding the impact of 1q21.1 copy number variant.
Orphanet J Rare Dis
; 6: 54, 2011 Aug 08.
Artigo
Inglês
| MEDLINE | ID: mdl-21824431
8.
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH.
Mol Cytogenet
; 1: 23, 2008 Nov 11.
Artigo
Inglês
| MEDLINE | ID: mdl-19000322
9.
Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH.
Am J Med Genet A
; 129A(3): 254-60, 2004 Sep 01.
Artigo
Inglês
| MEDLINE | ID: mdl-15326624