Detalhe da pesquisa
1.
The relationship between oxidative stress and psychotic disorders in 22q11.2 deletion syndrome.
Brain Behav Immun
; 114: 16-21, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541396
2.
The 22q11 low copy repeats are characterized by unprecedented size and structural variability.
Genome Res
; 29(9): 1389-1401, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31481461
3.
Resilience and quality of life in young adults with a 22q11.2 deletion syndrome: a patient's perspective.
Eur Child Adolesc Psychiatry
; 31(12): 1885-1894, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34115224
4.
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
5.
Stressed parents, happy parents. An assessment of parenting stress and family quality of life in families with a child with Phelan-McDermid syndrome.
J Appl Res Intellect Disabil
; 34(4): 1076-1088, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33525061
6.
Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
Am J Hum Genet
; 101(4): 616-622, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28965848
7.
Low prevalence of substance use in people with 22q11.2 deletion syndrome.
Br J Psychiatry
; 215(5): 661-667, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30604657
8.
A pilot study on immuno-psychiatry in the 22q11.2 deletion syndrome: A role for Th17 cells in psychosis?
Brain Behav Immun
; 70: 88-95, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29567371
9.
High prevalence of fatigue in adults with a 22q11.2 deletion syndrome.
Am J Med Genet A
; 173(4): 858-867, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28190295
10.
Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
Am J Hum Genet
; 103(3): 457, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30193139
11.
Blood brain barrier permeability increases with age in individuals with 22q11.2 deletion syndrome.
World J Biol Psychiatry
; 23(6): 475-482, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34854358
12.
Recent developments in Phelan-McDermid syndrome research: an update on cognitive development, communication and psychiatric disorders.
Curr Opin Psychiatry
; 34(2): 118-122, 2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33278153
13.
Cognitive deficits in childhood, adolescence and adulthood in 22q11.2 deletion syndrome and association with psychopathology.
Transl Psychiatry
; 10(1): 53, 2020 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32066691
14.
Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.
Neurology
; 90(23): e2059-e2067, 2018 06 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29752303
15.
Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.
Am J Psychiatry
; 174(11): 1054-1063, 2017 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28750581
16.
A catalog of hemizygous variation in 127 22q11 deletion patients.
Hum Genome Var
; 3: 15065, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27274857
17.
3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variability.
Eur J Med Genet
; 58(4): 244-8, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25655469