Detalhe da pesquisa
1.
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
Cell
; 145(4): 513-28, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21565611
2.
MeCP2 ubiquitination and sumoylation, in search of a function.
Hum Mol Genet
; 33(1): 1-11, 2023 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37694858
3.
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Brain
; 147(1): 311-324, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37713627
4.
MeCP2: latest insights fundamentally change our understanding of its interactions with chromatin and its functional attributes.
Bioessays
; 43(3): e2000281, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33416207
5.
Electron paramagnetic spectrum of dimanganic human serum transferrin.
Polyhedron
; 2032021 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37034105
6.
Biallelic missense variants in ZBTB11 can cause intellectual disability in humans.
Hum Mol Genet
; 27(18): 3177-3188, 2018 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29893856
7.
Molecular Structure of Binary Chromium(III)-DNA Adducts.
Chembiochem
; 21(5): 628-631, 2020 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31472032
8.
A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain.
J Hum Genet
; 65(5): 493-496, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32127623
9.
MeCP2_E1 N-terminal modifications affect its degradation rate and are disrupted by the Ala2Val Rett mutation.
Hum Mol Genet
; 26(21): 4132-4141, 2017 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973632
10.
Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.
Ann Hum Genet
; 83(4): 278-284, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30868578
11.
GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates.
Hum Genet
; 138(10): 1183-1200, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31471722
12.
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.
Am J Hum Genet
; 99(4): 912-916, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27616480
13.
Effects of chromium supplementation on body composition, human and animal health, and insulin and glucose metabolism.
Curr Opin Clin Nutr Metab Care
; 22(6): 483-489, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31577642
14.
Enrichment of pathogenic variants in genes associated with inborn errors of metabolism in psychiatric populations.
Am J Med Genet B Neuropsychiatr Genet
; 180(1): 46-54, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30556376
15.
MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro.
Hum Mutat
; 39(5): 717-728, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29431277
16.
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.
Hum Mol Genet
; 24(11): 3172-80, 2015 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25701870
17.
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
Hum Mol Genet
; 24(20): 5697-710, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26206890
18.
Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.
Am J Hum Genet
; 95(6): 721-8, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25480035
19.
New Evidence against Chromium as an Essential Trace Element.
J Nutr
; 147(12): 2212-2219, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29021369
20.
Investigation of correlations between DNA methylation, suicidal behavior and aging.
Bipolar Disord
; 19(1): 32-40, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28276657