Detalhe da pesquisa
1.
Association between Subcutaneous Adipose Tissue Inflammation, Insulin Resistance, and Calorie Restriction in Obese Females.
J Immunol
; 205(1): 45-55, 2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32482712
2.
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
Am J Hum Genet
; 101(5): 833-843, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100093
3.
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
Am J Hum Genet
; 97(3): 483-92, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26320891
4.
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
Am J Hum Genet
; 94(2): 278-87, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24439110
5.
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.
Am J Hum Genet
; 92(4): 584-9, 2013 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23561847
6.
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.
Am J Hum Genet
; 91(1): 146-51, 2012 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22683086
7.
A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.
Blood
; 122(7): 1312-5, 2013 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23733340
8.
First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.
Am J Med Genet A
; 164A(12): 3170-5, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25331754
9.
The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process.
Nucleic Acids Res
; 40(6): 2426-31, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22127862
10.
The α1 integrin cytoplasmic tail interacts with phosphoinositides and interferes with Akt activation.
Biochim Biophys Acta Biomembr
; 1866(2): 184257, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37992949
11.
Cardiomyocyte precursors generated by direct reprogramming and molecular beacon selection attenuate ventricular remodeling after experimental myocardial infarction.
Stem Cell Res Ther
; 14(1): 296, 2023 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37840130
12.
The Host Peritoneal Cavity Harbors Prominent Memory Th2 and Early Recall Responses to an Intestinal Nematode.
Front Immunol
; 13: 842870, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35418979
13.
Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders.
J Clin Endocrinol Metab
; 107(7): e3048-e3057, 2022 06 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35276006
14.
Tau fragmentation, aggregation and clearance: the dual role of lysosomal processing.
Hum Mol Genet
; 18(21): 4153-70, 2009 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19654187
15.
Increased risk of severe clinical course of COVID-19 in carriers of HLA-C*04:01.
EClinicalMedicine
; 40: 101099, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34490415
16.
Increased presence and differential molecular imprinting of transit amplifying cells in psoriasis.
J Mol Med (Berl)
; 98(1): 111-122, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31832701
17.
Multi-Parameter Analysis of Biobanked Human Bone Marrow Stromal Cells Shows Little Influence for Donor Age and Mild Comorbidities on Phenotypic and Functional Properties.
Front Immunol
; 10: 2474, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31781089
18.
Evaluation of major types of Shiga toxin 2E-producing Escherichia coli bacteria present in food, pigs, and the environment as potential pathogens for humans.
Appl Environ Microbiol
; 74(15): 4806-16, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18515483
19.
Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.
Bone
; 110: 368-377, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29499418
20.
Hematopoietic lineage distribution and evolutionary dynamics of clonal hematopoiesis.
Leukemia
; 32(9): 1908-1919, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29491455