Detalhe da pesquisa
1.
Mitochondrial dysfunction and oxidative stress contribute to cognitive and motor impairment in FOXP1 syndrome.
Proc Natl Acad Sci U S A
; 119(8)2022 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35165191
2.
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.
PLoS Genet
; 16(11): e1009106, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33151932
3.
Imbalanced post- and extrasynaptic SHANK2A functions during development affect social behavior in SHANK2-mediated neuropsychiatric disorders.
Mol Psychiatry
; 26(11): 6482-6504, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34021263
4.
Europe's Roma people are vulnerable to poor practice in genetics.
Nature
; 599(7885): 368-371, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34789896
5.
Gastrointestinal dysfunction in autism displayed by altered motility and achalasia in Foxp1+/- mice.
Proc Natl Acad Sci U S A
; 116(44): 22237-22245, 2019 10 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31611379
6.
Foxp1 expression is essential for sex-specific murine neonatal ultrasonic vocalization.
Hum Mol Genet
; 26(8): 1511-1521, 2017 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28204507
7.
Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.
Hum Mol Genet
; 25(3): 546-57, 2016 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26647308
8.
Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency.
Genet Med
; 20(7): 728-736, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29261175
9.
miR-16 and miR-125b are involved in barrier function dysregulation through the modulation of claudin-2 and cingulin expression in the jejunum in IBS with diarrhoea.
Gut
; 66(9): 1537-1538, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28082316
10.
The Human Serotonin Type 3 Receptor Gene (HTR3A-E) Allelic Variant Database.
Hum Mutat
; 38(2): 137-147, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27763704
11.
Emerging evidence for gene mutations driving both brain and gut dysfunction in autism spectrum disorder.
Mol Psychiatry
; 26(5): 1442-1444, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32461615
12.
Correction: Imbalanced post- and extrasynaptic SHANK2A functions during development affect social behavior in SHANK2-mediated neuropsychiatric disorders.
Mol Psychiatry
; 26(11): 6505, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34234282
13.
Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
J Med Genet
; 53(2): 138-44, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26566883
14.
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
PLoS Genet
; 10(9): e1004580, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25188300
15.
Investigation of SHANK3 in schizophrenia.
Am J Med Genet B Neuropsychiatr Genet
; 174(4): 390-398, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371232
16.
SHOX triggers the lysosomal pathway of apoptosis via oxidative stress.
Hum Mol Genet
; 23(6): 1619-30, 2014 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24186869
17.
Coding and non-coding variants in the SHOX2 gene in patients with early-onset atrial fibrillation.
Basic Res Cardiol
; 111(3): 36, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27138930
18.
Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.
J Hum Genet
; 61(10): 867-872, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27305979
19.
Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts.
Gut
; 64(11): 1774-82, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25248455
20.
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.
Am J Hum Genet
; 90(3): 565-72, 2012 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22405089