Detalhe da pesquisa
1.
Rare coding variants as risk modifiers of the 22q11.2 deletion implicate postnatal cortical development in syndromic schizophrenia.
Mol Psychiatry;
28(5): 2071-2080, 2023 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36869225
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.
Enlarged cavum septum pellucidum and small thymus as markers for 22q11.2 deletion syndrome.
Prenat Diagn;
2024 Mar 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38497811
4.
A case-control study of bleeding risk in children with 22q11.2 deletion syndrome undergoing cardiac surgery.
Platelets;
35(1): 2290108, 2024 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38099325
5.
The clinical course of individuals with 22q11.2 deletion syndrome converting to psychotic disorders: a long-term retrospective follow-up.
Eur Child Adolesc Psychiatry;
2024 Jun 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38834873
6.
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
Am J Hum Genet;
106(1): 26-40, 2020 01 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31870554
7.
Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications.
J Clin Immunol;
43(4): 794-807, 2023 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36735193
8.
Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.
Genet Med;
25(3): 100344, 2023 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36729052
9.
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
10.
Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression.
Clin Genet;
103(1): 109-113, 2023 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36075864
11.
Psychosis spectrum features, neurocognition and functioning in a longitudinal study of youth with 22q11.2 deletion syndrome.
Psychol Med;
: 1-10, 2023 Mar 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36987693
12.
Altered functional brain dynamics in chromosome 22q11.2 deletion syndrome during facial affect processing.
Mol Psychiatry;
27(2): 1158-1166, 2022 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34686764
13.
Distinct immune trajectories in patients with chromosome 22q11.2 deletion syndrome and immune-mediated diseases.
J Allergy Clin Immunol;
149(1): 445-450, 2022 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34144109
14.
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.
Mol Psychiatry;
26(8): 4496-4510, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32015465
15.
Gastrointestinal Features of 22q11.2 Deletion Syndrome Include Chronic Motility Problems From Childhood to Adulthood.
J Pediatr Gastroenterol Nutr;
75(2): e8-e14, 2022 08 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35641891
16.
Chromosome 22q11 copy number variants and single ventricle CHD.
Cardiol Young;
: 1-5, 2022 Feb 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35199637
17.
Surgical insights and management in patients with the 22q11.2 deletion syndrome.
Pediatr Surg Int;
38(6): 899-905, 2022 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35411495
18.
Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.
Hum Mol Genet;
28(22): 3724-3733, 2019 11 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31884517
19.
Approaches to studying the impact of 22q11.2 copy number variants.
Am J Hum Genet;
110(7): 1216-1218, 2023 07 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37419092
20.
Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma.
Genet Med;
23(9): 1779-1782, 2021 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33879870