Detalhe da pesquisa
1.
Hearing loss and history of otolaryngological conditions in adults with microdeletion 22q11.2.
Am J Med Genet A
; 194(3): e63456, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-37916923
2.
Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation.
Prenat Diagn
; 2024 Apr 09.
Artigo
Inglês
| MEDLINE | ID: mdl-38593251
3.
Psychiatric and neurological manifestations in adults with Smith-Magenis syndrome: A scoping review.
Am J Med Genet B Neuropsychiatr Genet
; 195(2): e32956, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-37584268
4.
Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.
Genet Med
; 25(3): 100344, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36729052
5.
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.
Genet Med
; 25(3): 100338, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36729053
6.
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.
Mol Psychiatry
; 26(8): 4496-4510, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32015465
7.
Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study.
Am J Med Genet A
; 188(2): 569-578, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34773366
8.
Sexual knowledge and behaviour in 22q11.2 deletion syndrome, a complex care condition.
J Appl Res Intellect Disabil
; 35(4): 966-975, 2022 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-34291536
9.
Approaches to studying the impact of 22q11.2 copy number variants.
Am J Hum Genet
; 110(7): 1216-1218, 2023 07 06.
Artigo
Inglês
| MEDLINE | ID: mdl-37419092
10.
Cognitive behavioral therapy in 22q11.2 deletion syndrome: A case study of two young adults with an anxiety disorder.
J Intellect Disabil
; 25(4): 695-704, 2021 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-32772800
11.
A genetic model for multimorbidity in young adults.
Genet Med
; 22(1): 132-141, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31363180
12.
Age-Related Parkinsonian Signs in Microdeletion 22q11.2.
Mov Disord
; 35(7): 1239-1245, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32386091
13.
Personalized medical information card for adults with 22q11.2 deletion syndrome: An initiative to improve communication between patients and healthcare providers.
J Appl Res Intellect Disabil
; 33(6): 1534-1540, 2020 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-32407568
14.
All-cause mortality and survival in adults with 22q11.2 deletion syndrome.
Genet Med
; 21(10): 2328-2335, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30948858
15.
Low prevalence of substance use in people with 22q11.2 deletion syndrome.
Br J Psychiatry
; 215(5): 661-667, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30604657
16.
Adverse effects of antipsychotic medication in patients with 22q11.2 deletion syndrome: A systematic review.
Am J Med Genet A
; 179(11): 2292-2306, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31407842
17.
Non-pharmacological treatment of psychiatric disorders in individuals with 22q11.2 deletion syndrome; a systematic review.
Am J Med Genet A
; 176(8): 1742-1747, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29363845
18.
Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series.
Am J Med Genet A
; 176(10): 2146-2159, 2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-29777584
19.
Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome.
Am J Med Genet A
; 176(4): 936-944, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29575622
20.
Neuroimaging and clinical features in adults with a 22q11.2 deletion at risk of Parkinson's disease.
Brain
; 140(5): 1371-1383, 2017 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28369257