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.
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.
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
4.
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
5.
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
6.
Fetal gastroschisis: Maternal and fetal methylation profile.
Prenat Diagn
; 41(4): 449-456, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33332636
7.
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
8.
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
9.
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
10.
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
11.
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
12.
Duplication 9p and their implication to phenotype.
BMC Med Genet
; 15: 142, 2014 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25526829
13.
Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.
Am J Med Genet A
; 164A(7): 1659-65, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24700634
14.
Genome-Wide Admixture and Association Study of Serum Selenium Deficiency to Identify Genetic Variants Indirectly Linked to Selenium Regulation in Brazilian Adults.
Nutrients
; 16(11)2024 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38892560
15.
Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables.
Genes (Basel)
; 15(5)2024 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38790224
16.
Interaction between PTSD-PRS and trauma affects PTSD likelihood in women victims of sexual assault.
Braz J Psychiatry
; 2024 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38467473
17.
Cytogenetics investigation in 151 Brazilian infertile male patients and genomic analysis in selected cases: experience of 14 years in a public genetic service.
BMC Res Notes
; 17(1): 67, 2024 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38444014
18.
Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil.
J Pediatr Genet
; 13(2): 90-98, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38721574
19.
Diffuse hemispheric glioma with H3 p.K28M (K27M) mutation: Unusual non-midline presentation of diffuse midline glioma, H3 K27M-altered?
J Neuropathol Exp Neurol
; 83(5): 357-364, 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38447592
20.
Post-COVID-19 condition: systemic inflammation and low functional exercise capacity.
Front Nutr
; 11: 1295026, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38549752