Detalhe da pesquisa
1.
Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting.
Ann Hum Genet
; 88(2): 113-125, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37807935
2.
Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion.
J Pediatr
; 252: 56-60.e2, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36067875
3.
Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing.
Ann Hum Genet
; 85(1): 18-26, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32761927
4.
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses.
Am J Med Genet A
; 185(8): 2335-2344, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33988290
5.
Cytogenetically visible inversions are formed by multiple molecular mechanisms.
Hum Mutat
; 41(11): 1979-1998, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906200
6.
Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.
Am J Hum Genet
; 95(5): 565-78, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439725
7.
Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature.
Am J Med Genet A
; 170(3): 766-72, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26638882
8.
Differential DNA Methylation of MicroRNA Genes in Temporal Cortex from Alzheimer's Disease Individuals.
Neural Plast
; 2016: 2584940, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27213057
9.
Rhabdomyosarcoma Associated with Core Myopathy/Malignant Hyperthermia: Combined Effect of Germline Variants in RYR1 and ASPSCR1 May Play a Role.
Genes (Basel)
; 14(7)2023 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37510264
10.
Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants.
Mol Neurobiol
; 60(7): 3758-3769, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36943625
11.
Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion.
BMC Cancer
; 12: 237, 2012 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-22691290
12.
Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature.
Endocr Connect
; 11(12)2022 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36373817
13.
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil.
Sci Rep
; 12(1): 15184, 2022 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36071085
14.
Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: case report.
BMC Med Genet
; 12: 128, 2011 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-21962078
15.
5q12.1 deletion: delineation of a phenotype including mental retardation and ocular defects.
Am J Med Genet A
; 155A(4): 725-31, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21594994
16.
Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome.
Front Genet
; 12: 708348, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34512724
17.
DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation.
Eur J Med Genet
; 63(3): 103737, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31419599
18.
Insights in Osteosarcoma by Proton Nuclear Magnetic Resonance Serum Metabonomics.
Front Oncol
; 10: 506959, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33178572
19.
Insights into the Chemical Biology of Childhood Embryonal Solid Tumors by NMR-Based Metabolomics.
Biomolecules
; 9(12)2019 12 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31817982
20.
Germline BAX deletion in a patient with melanoma and gastrointestinal stromal tumor.
Am J Gastroenterol
; 108(8): 1372-5, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23912413