Detalhe da pesquisa
1.
Functional and transcriptomic insights into pathogenesis of R9C phospholamban mutation using human induced pluripotent stem cell-derived cardiomyocytes.
J Mol Cell Cardiol
; 119: 147-154, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29752948
2.
Prospective longitudinal overnight video-EEG evaluation in Phelan-McDermid Syndrome.
Epilepsy Behav
; 80: 312-320, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29402632
3.
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome.
Nature
; 465(7299): 808-12, 2010 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-20535210
4.
Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss.
Hum Mutat
; 36(6): 587-92, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25754315
5.
Transcriptomic landscape of human induced pluripotent stem cell-derived osteogenic differentiation identifies a regulatory role of KLF16.
bioRxiv
; 2024 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38405902
6.
Transient abnormal myelopoiesis with extramedullary involvement in a down syndrome preemie leading to an unresponsive course despite chemotherapy.
Leuk Res Rep
; 20: 100381, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37560406
7.
Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement.
Mol Cytogenet
; 16(1): 32, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38012697
8.
Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome.
Hum Mol Genet
; 19(17): 3383-93, 2010 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20570968
9.
Complex autism spectrum disorder in a patient with a 17q12 microduplication.
Am J Med Genet A
; 158A(5): 1170-7, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22488896
10.
Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome.
Am J Med Genet A
; 173(5): 1436-1439, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28317263
11.
Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization.
Genet Med
; 12(2): 85-92, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20084009
12.
De Novo Interstitial Deletion of 9q in a Pediatric Patient With Global Developmental Delay.
Child Neurol Open
; 6: 2329048X19844920, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31106228
13.
Familial inheritance of the 3q29 microdeletion syndrome: case report and review.
BMC Med Genomics
; 12(1): 51, 2019 03 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30885185
14.
SKY reveals a high frequency of unbalanced translocations involving chromosome 6 in t(12;21)-positive acute lymphoblastic leukemia.
Leuk Res
; 32(1): 39-43, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17418891
15.
Multiple hemangiomas in a patient with a t(3q;4p) translocation: an infrequent association with Wolf-Hirschhorn syndrome.
Am J Med Genet A
; 146A(2): 219-24, 2008 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18076104
16.
An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.
J Med Genet
; 44(2): 136-43, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16971481
17.
Myeloid/lymphoid neoplasm with a novel cryptic RBPMS::FGFR1 rearrangement presenting as de novo acute leukemias.
Leuk Lymphoma
; 64(14): 2338-2342, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37791611
18.
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion.
NPJ Genom Med
; 3: 3, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29367880
19.
SKY analysis of childhood neural tumors and cell lines demonstrates a susceptibility of aberrant chromosomes to further rearrangements.
Cancer Lett
; 250(1): 47-52, 2007 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-17084022
20.
Chromosomal Microarray Detection of Constitutional Copy Number Variation Using Saliva DNA.
J Mol Diagn
; 19(3): 397-403, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28315673