Detalhe da pesquisa
1.
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.
Am J Obstet Gynecol
; 230(3): 368.e1-368.e12, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37717890
2.
Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation.
Prenat Diagn
; 2024 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38593251
3.
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.
Genet Med
; 25(3): 100338, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36729053
4.
Neuroinflammation and Oxidative Stress in Individuals Affected by DiGeorge Syndrome.
Int J Mol Sci
; 24(4)2023 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36835652
5.
The heart in RASopathies.
Am J Med Genet C Semin Med Genet
; 190(4): 440-451, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36408797
6.
Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong association with genetic syndromes-A report of 74 cases with systematic review of the literature.
Am J Med Genet A
; 188(8): 2351-2359, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35491976
7.
Congenital heart defects in molecularly confirmed KBG syndrome patients.
Am J Med Genet A
; 188(4): 1149-1159, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34971082
8.
Serum prokineticin-2 in prepubertal and adult Klinefelter individuals.
Can J Physiol Pharmacol
; 100(2): 151-157, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34614364
9.
Anatomically corrected malposition of the great arteries (S,L,D) with mutation of Nodal gene.
Cardiol Young
; : 1-3, 2022 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35593432
10.
Clinical Manifestations of 22q11.2 Deletion Syndrome.
Heart Fail Clin
; 18(1): 155-164, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34776076
11.
Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management.
Heart Fail Clin
; 18(1): 19-29, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34776080
12.
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.
Clin Genet
; 100(3): 268-279, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33988253
13.
Is Aripiprazole Useful for Treatment of Psychotic Symptoms in a Patient With 22q11.2 Deletion Syndrome?: A Case Series.
J Clin Psychopharmacol
; 43(4): 384-386, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37335196
14.
Factors That Negatively Affect the Prognosis of Pediatric Community-Acquired Pneumonia in District Hospital in Tanzania.
Int J Mol Sci
; 18(3)2017 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-28335406
15.
Salivary α-Synuclein as a Candidate Biomarker of Parkinsonism in 22q11.2 Deletion Syndrome.
Mov Disord Clin Pract
; 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38661486
16.
From Klinefelter Syndrome to High Grade Aneuploidies: Expanding the Gene-dosage Effect of Supernumerary X Chromosomes.
J Clin Endocrinol Metab
; 2024 Jan 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38193351
17.
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.
Diagnostics (Basel)
; 14(6)2024 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38535015
18.
Transpositions of the great arteries versus aortic dextropositions. A review of some embryogenetic and morphological aspects.
Anat Rec (Hoboken)
; 306(3): 502-514, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36426596
19.
Gender differences in congenital heart defects: a narrative review.
Transl Pediatr
; 12(9): 1753-1764, 2023 Sep 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37814719
20.
Efficacy and safety of clozapine in treatment-resistant psychotic patients with DiGeorge syndrome (22q11.2 deletion syndrome): a case series.
Int Clin Psychopharmacol
; 2023 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37824335