Detalhe da pesquisa
1.
Genetics and Molecular Basis of Congenital Heart Defects in Down Syndrome: Role of Extracellular Matrix Regulation.
Int J Mol Sci
; 24(3)2023 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36769235
2.
Targeting Mitochondrial Network Architecture in Down Syndrome and Aging.
Int J Mol Sci
; 21(9)2020 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32365535
3.
Metformin restores the mitochondrial network and reverses mitochondrial dysfunction in Down syndrome cells.
Hum Mol Genet
; 26(6): 1056-1069, 2017 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28087733
4.
Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets.
Mol Med
; 24(1): 2, 2018 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30134785
5.
DiGeorge-like syndrome in a child with a 3p12.3 deletion involving MIR4273 gene born to a mother with gestational diabetes mellitus.
Am J Med Genet A
; 173(7): 1913-1918, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28436605
6.
Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome.
Am J Med Genet A
; 173(7): 1896-1902, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28462983
7.
Rab7 Regulates CDH1 Endocytosis, Circular Dorsal Ruffles Genesis, and Thyroglobulin Internalization in a Thyroid Cell Line.
J Cell Physiol
; 231(8): 1695-708, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26599499
8.
NRIP1/RIP140 siRNA-mediated attenuation counteracts mitochondrial dysfunction in Down syndrome.
Hum Mol Genet
; 23(16): 4406-19, 2014 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24698981
9.
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing.
Am J Med Genet A
; 170(8): 2196-9, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27256967
10.
Chronic pro-oxidative state and mitochondrial dysfunctions are more pronounced in fibroblasts from Down syndrome foeti with congenital heart defects.
Hum Mol Genet
; 22(6): 1218-32, 2013 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23257287
11.
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.
Am J Med Genet A
; 164A(1): 190-3, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24243641
12.
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review.
Am J Med Genet A
; 164A(3): 753-9, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24357330
13.
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.
PLoS Genet
; 7(7): e1002173, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21779178
14.
Clinical description of a patient carrying the smallest reported deletion involving 10p14 region.
Am J Med Genet A
; 158A(4): 832-5, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22407589
15.
De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype.
Am J Med Genet A
; 158A(10): 2571-6, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22903806
16.
Prenatal BACs-on-Beads™: the prospective experience of five prenatal diagnosis laboratories.
Prenat Diagn
; 32(4): 329-35, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22467163
17.
Overexpression of the Hsa21 Transcription Factor RUNX1 Modulates the Extracellular Matrix in Trisomy 21 Cells.
Front Genet
; 13: 824922, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35356434
18.
Down Syndrome Fetal Fibroblasts Display Alterations of Endosomal Trafficking Possibly due to SYNJ1 Overexpression.
Front Genet
; 13: 867989, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35646085
19.
In vivo role of different domains and of phosphorylation in the transcription factor Nkx2-1.
BMC Dev Biol
; 11: 9, 2011 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-21345181
20.
Erratum to: In vivo role of different domains and of phosphorylation in the transcription factor Nkx2-1.
BMC Dev Biol
; 16(1): 29, 2016 Aug 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-27553860