Detalhe da pesquisa
1.
MS-Driven Metabolic Alterations Are Recapitulated in iPSC-Derived Astrocytes.
Ann Neurol
; 91(5): 652-669, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35226368
2.
Different gene expression profiles in iPSC-derived motor neurons from ALS8 patients with variable clinical courses suggest mitigating pathways for neurodegeneration.
Hum Mol Genet
; 29(9): 1465-1475, 2020 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32280986
3.
10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly.
J Med Genet
; 56(8): 543-547, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30301738
4.
Rare RELN variants affect Reelin-DAB1 signal transduction in autism spectrum disorder.
Hum Mutat
; 39(10): 1372-1383, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29969175
5.
Dysfunctional mTORC1 Signaling: A Convergent Mechanism between Syndromic and Nonsyndromic Forms of Autism Spectrum Disorder?
Int J Mol Sci
; 18(3)2017 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28335463
6.
High OCT4 and Low p16(INK4A) Expressions Determine In Vitro Lifespan of Mesenchymal Stem Cells.
Stem Cells Int
; 2015: 369828, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26089914
7.
Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2.
Am J Med Genet
; 113(2): 200-6, 2002 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-12407713
8.
Crouzon syndrome: association with absent pulmonary valve syndrome and severe tracheobronchomalacia.
Pediatr Pulmonol
; 34(6): 478-81, 2002 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-12422346
9.
Effects of antipsychotics with different weight gain liabilities on human in vitro models of adipose tissue differentiation and metabolism.
Prog Neuropsychopharmacol Biol Psychiatry
; 35(8): 1884-90, 2011 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21840366
10.
How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?
Hum Mutat
; 25(3): 314-5; author reply 316, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15714516
11.
Collybistin and gephyrin are novel components of the eukaryotic translation initiation factor 3 complex.
BMC Res Notes
; 3: 242, 2010 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-20858277
12.
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.
Front Oral Biol
; 12: 107-143, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18391498
13.
COL18A1 is highly expressed during human adipocyte differentiation and the SNP c.1136C > T in its "frizzled" motif is associated with obesity in diabetes type 2 patients.
An Acad Bras Cienc
; 80(1): 167-77, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18345385
14.
Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells.
Mol Med
; 13(7-8): 422-42, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17622301
15.
Mutations in collagen 18A1 and their relevance to the human phenotype.
An Acad Bras Cienc
; 78(1): 123-31, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16532212
16.
COL18A1 is highly expressed during human adipocyte differentiation and the SNP c.1136C > T in its "frizzled" motif is associated with obesity in diabetes type 2 patients
An. acad. bras. ciênc
; 80(1): 167-177, Mar. 2008. ilus, graf, tab
Artigo
em Inglês
| LILACS | ID: lil-477424
17.
Mutations in collagen 18A1 (COL18A1) and their relevance to the human phenotype
An. acad. bras. ciênc
; 78(1): 123-131, Mar. 2006. tab
Artigo
em Inglês
| LILACS | ID: lil-422266