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 adults with 22q11.2 deletion syndrome.
Genet Med
; 25(3): 100344, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36729052
4.
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
5.
Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs.
J Clin Immunol
; 42(3): 618-633, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35080750
6.
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
7.
Retrospective analysis of TREC based newborn screening results and clinical phenotypes in infants with the 22q11 deletion syndrome.
J Clin Immunol
; 34(4): 514-9, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24610337
8.
Long-term clinical effects of early thymectomy: Associations with autoimmune diseases, cancer, infections, and atopic diseases.
J Allergy Clin Immunol
; 141(6): 2294-2297.e8, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29454003
9.
T-cell receptor sequencing reveals decreased diversity 18 years after early thymectomy.
J Allergy Clin Immunol
; 140(6): 1743-1746.e7, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28866385
10.
Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions.
Genes (Basel)
; 14(1)2023 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672900
11.
Speech and hearing in adults with 22q11.2 deletion syndrome.
Am J Med Genet A
; 158A(12): 3071-9, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23165987
12.
Antibody deficiency in adults with 22q11.2 deletion syndrome.
Am J Med Genet A
; 158A(8): 1934-40, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22786729
13.
Early thymectomy leads to premature immunologic ageing: An 18-year follow-up.
J Allergy Clin Immunol
; 138(5): 1439-1443.e10, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27397107
14.
Oral health and 22q11 deletion syndrome: thoughts and experiences from the parents' perspectives.
Int J Paediatr Dent
; 20(4): 283-92, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20536590
15.
Visual Function And Quality Of Life In A Cohort Of Swedish Children With Juvenile Idiopathic Arthritis.
Clin Ophthalmol
; 13: 2081-2091, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31749605
16.
Assessment of the outcome of ophthalmological screening for uveitis in a cohort of Swedish children with juvenile idiopathic arthritis.
Acta Ophthalmol
; 95(7): 741-747, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28205413
17.
Practical guidelines for managing patients with 22q11.2 deletion syndrome.
J Pediatr
; 159(2): 332-9.e1, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21570089
18.
A prospective cross-sectional study of speech in patients with the 22q11 deletion syndrome.
J Commun Disord
; 36(1): 13-47, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-12493636
19.
Newborn screening for primary immunodeficiencies: beyond SCID and XLA.
Ann N Y Acad Sci
; 1246: 118-30, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22236436
20.
Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome.
Res Dev Disabil
; 30(4): 763-73, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19070990