Detalhe da pesquisa
1.
Genetic profile of Brazilian patients with LAMA2-related dystrophies.
Clin Genet
; 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38747280
2.
Strong OLIG2 expression in supratentorial ependymoma, ZFTA fusion-positive: A potential diagnostic pitfall.
Neuropathology
; 44(2): 167-172, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37855183
3.
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
4.
SIN3A Defects Associated with Syndromic Congenital Hypogonadotropic Hypogonadism: An Overlap with Witteveen-Kolk Syndrome.
Neuroendocrinology
; 113(8): 834-843, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36758531
5.
Comparison of intravenous and inhalation anesthesia on postoperative behavior changes in children undergoing ambulatory endoscopic procedures: A randomized clinical trial.
Paediatr Anaesth
; 33(3): 229-235, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36371675
6.
Establishment and Comprehensive Molecular Characterization of an Immortalized Glioblastoma Cell Line from a Brazilian Patient.
Int J Mol Sci
; 24(21)2023 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37958846
7.
Cardiovascular findings in Williams-Beuren Syndrome: Experience of a single center with 127 cases.
Am J Med Genet A
; 188(2): 676-682, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34713566
8.
Fetal gastroschisis: Maternal and fetal methylation profile.
Prenat Diagn
; 41(4): 449-456, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33332636
9.
Lymphoproliferative disorder with polyautoimmunity and hypogammaglobulinemia: An unusual presentation of 22q11.2 deletion syndrome.
Clin Immunol
; 220: 108590, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32920211
10.
Severe brain involvement in 5q spinal muscular atrophy type 0.
Ann Neurol
; 86(3): 458-462, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31301241
11.
Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines.
Cytogenet Genome Res
; 157(3): 153-157, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30933946
12.
Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.
Hum Mutat
; 39(2): 281-291, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29193635
13.
Association between adult and child behavioral interactions with preoperative anxiety and emergence delirium.
Paediatr Anaesth
; 33(5): 402-404, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36567612
14.
Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability.
Cytogenet Genome Res
; 149(4): 241-246, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27665090
15.
Post-mortem cytogenomic investigations in patients with congenital malformations.
Exp Mol Pathol
; 101(1): 116-23, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27450648
16.
Reply to "Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0".
Ann Neurol
; 86(5): 803, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31502291
17.
Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.
Am J Med Genet A
; 167A(12): 3197-203, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26420477
18.
45,X karyotype in an infertile man: how is this possible?
Urol Int
; 94(4): 488-90, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25170625
19.
NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene.
Clin Immunol
; 154(2): 100-4, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25038527
20.
Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome.
Mol Genet Genomics
; 289(6): 1037-43, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24985706