Detalhe da pesquisa
1.
Gut microbiota and metabolomics profiles in patients with chronic stable angina and acute coronary syndrome.
Physiol Genomics
; 56(1): 48-64, 2024 Jan 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37811721
2.
From hype to hope: Considerations in conducting robust microbiome science.
Brain Behav Immun
; 115: 120-130, 2024 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37806533
3.
Insights into the associations between the gut microbiome, its metabolites, and heart failure.
Am J Physiol Heart Circ Physiol
; 325(6): H1325-H1336, 2023 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37737730
4.
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.
Hum Mutat
; 41(12): 2087-2093, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32906221
5.
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.
Hum Mol Genet
; 24(14): 4126-37, 2015 Jul 15.
Artigo
Inglês
| MEDLINE | ID: mdl-25908617
6.
Mutations in WNT1 cause different forms of bone fragility.
Am J Hum Genet
; 92(4): 565-74, 2013 Apr 04.
Artigo
Inglês
| MEDLINE | ID: mdl-23499309
7.
The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia.
Hum Mol Genet
; 22(1): 124-39, 2013 Jan 01.
Artigo
Inglês
| MEDLINE | ID: mdl-23026747
8.
The kinetic analysis of the substrate specificity of motif 5 in a HAD hydrolase-type phosphosugar phosphatase of Arabidopsis thaliana.
Planta
; 240(3): 479-87, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-24915748
9.
Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects.
Am J Med Genet A
; 164A(5): 1143-50, 2014 May.
Artigo
Inglês
| MEDLINE | ID: mdl-24648371
10.
Airway epithelium respiratory illnesses and allergy (AERIAL) birth cohort: study protocol.
Front Allergy
; 5: 1349741, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38666051
11.
An Analysis of the Gut Microbiota and Related Metabolites following PCSK9 Inhibition in Statin-Treated Patients with Elevated Levels of Lipoprotein(a).
Microorganisms
; 12(1)2024 Jan 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38257996
12.
Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.
Am J Hum Genet
; 87(1): 110-4, 2010 Jul 09.
Artigo
Inglês
| MEDLINE | ID: mdl-20579626
13.
HAD hydrolase function unveiled by substrate screening: enzymatic characterization of Arabidopsis thaliana subclass I phosphosugar phosphatase AtSgpp.
Planta
; 237(4): 943-54, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23179445
14.
Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations.
Am J Med Genet A
; 161A(6): 1354-69, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23613367
15.
Bile Acids and Microbiota Interplay in Pancreatic Cancer.
Cancers (Basel)
; 15(14)2023 Jul 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37509236
16.
Gut Microbiome and Associated Metabolites Following Bariatric Surgery and Comparison to Healthy Controls.
Microorganisms
; 11(5)2023 Apr 26.
Artigo
Inglês
| MEDLINE | ID: mdl-37317100
17.
Airway Epithelium Respiratory Illnesses and Allergy (AERIAL) birth cohort: study protocol.
medRxiv
; 2023 May 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37205501
18.
Detection of bile acids in bronchoalveolar lavage fluid defines the inflammatory and microbial landscape of the lower airways in infants with cystic fibrosis.
Microbiome
; 11(1): 132, 2023 06 13.
Artigo
Inglês
| MEDLINE | ID: mdl-37312128
19.
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.
Hum Mutat
; 33(2): 343-50, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22052668
20.
Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.
Hum Mutat
; 33(10): 1444-9, 2012 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-22689593