Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
Chromatin Modifications in 22q11.2 Deletion Syndrome.
J Clin Immunol
; 41(8): 1853-1864, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34435264
6.
Cardiac evaluation of patients with 22q11.2 duplication syndrome.
Am J Med Genet A
; 185(3): 753-758, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33369133
7.
Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome Without Intracardiac Anomalies.
Pediatr Cardiol
; 42(7): 1594-1600, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34128123
8.
Early language measures associated with later psychosis features in 22q11.2 deletion syndrome.
Am J Med Genet B Neuropsychiatr Genet
; 183(6): 392-400, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32715620
9.
Club foot in association with the 22q11.2 deletion syndrome: An observational study.
Am J Med Genet A
; 176(10): 2135-2139, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30380189
10.
22q and two: 22q11.2 deletion syndrome and coexisting conditions.
Am J Med Genet A
; 176(10): 2203-2214, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30244528
11.
What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.
Am J Med Genet A
; 176(10): 2058-2069, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30380191
12.
22q11.2 deletion syndrome in diverse populations.
Am J Med Genet A
; 173(4): 879-888, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28328118
13.
Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.
Genes (Basel)
; 14(3)2023 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980952
14.
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.
NPJ Genom Med
; 8(1): 17, 2023 Jul 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37463940
15.
A Novel Non-Allelic Homologous Recombination Event in a Parent with an 11;22 Reciprocal Translocation Leading to 22q11.2 Deletion Syndrome.
Genes (Basel)
; 13(9)2022 09 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36140835
16.
Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome.
Genes (Basel)
; 13(10)2022 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36292685
17.
Relationship between intelligence quotient measures and computerized neurocognitive performance in 22q11.2 deletion syndrome.
Brain Behav
; 11(8): e2221, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34213087
18.
Magnetic resonance angiography (MRA) in preoperative planning for patients with 22q11.2 deletion syndrome undergoing craniofacial and otorhinolaryngologic procedures.
Int J Pediatr Otorhinolaryngol
; 138: 110236, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32890936
19.
Optical mapping of the 22q11.2DS region reveals complex repeat structures and preferred locations for non-allelic homologous recombination (NAHR).
Sci Rep
; 10(1): 12235, 2020 07 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32699385