Detalhe da pesquisa
1.
Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells.
Am J Med Genet A
; 191(4): 1101-1106, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36598152
2.
Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype.
Am J Med Genet A
; 188(2): 692-707, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34665525
3.
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Am J Med Genet A
; 188(12): 3492-3504, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36135330
4.
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature.
Int J Mol Sci
; 23(8)2022 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35457240
5.
Severe Acute Respiratory Syndrome Coronavirus 2 Antibody Prevalence in Blood in a Large School Community Subject to a Coronavirus Disease 2019 Outbreak: A Cross-sectional Study.
Clin Infect Dis
; 73(2): e458-e465, 2021 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32649743
6.
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
Hum Mutat
; 41(1): 150-168, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31448840
7.
Epigenetic footprint enables molecular risk stratification of hepatoblastoma with clinical implications.
J Hepatol
; 73(2): 328-341, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32240714
8.
A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1.
Am J Med Genet A
; 182(3): 508-512, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31880396
9.
Autoantibodies against a novel citrullinated fibrinogen peptide related to smoking status, disease activity and therapeutic response to methotrexate in cuban patients with early rheumatoid arthritis.
Rheumatol Int
; 40(11): 1873-1881, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32472302
10.
Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.
Clin Genet
; 96(3): 246-253, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31090057
11.
Small 4p16.3 deletions: Three additional patients and review of the literature.
Am J Med Genet A
; 176(11): 2501-2508, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30244530
12.
Carbamylated vimentin represents a relevant autoantigen in Latin American (Cuban) rheumatoid arthritis patients.
Rheumatol Int
; 36(6): 781-91, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27038800
13.
Human neural stem cell transplantation in ALS: initial results from a phase I trial.
J Transl Med
; 13: 17, 2015 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-25889343
14.
Multimodality Treatment of Pediatric and Adult Patients With Ewing Sarcoma: A Single-institution Experience.
J Pediatr Hematol Oncol
; 37(5): e278-84, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25929608
15.
Prenatal CFAP53-related laterality defect: case report and review of the literature.
J Matern Fetal Neonatal Med
; 36(1): 2201653, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37041101
16.
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region.
Genes (Basel)
; 14(12)2023 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38136979
17.
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.
Eur J Hum Genet
; 31(4): 479-484, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36599940
18.
Neurodevelopmental Impairment As the Main Phenotypic Hallmark Associated with the Translocation t(7;10)(7p22.3;q26.11).
J Pediatr Genet
; 11(1): 68-73, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35186394
19.
Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet-Biedl Syndrome-Like Phenotype.
Front Genet
; 13: 924362, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35910214
20.
Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis.
Diagnostics (Basel)
; 12(6)2022 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35741137