Detalhe da pesquisa
1.
Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis.
Am J Hum Genet
; 109(10): 1894-1908, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36206743
2.
Genetic variation in severe cystic fibrosis liver disease is associated with novel mechanisms for disease pathogenesis.
Hepatology
; 2024 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38536042
3.
Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients.
Am J Respir Crit Care Med
; 207(10): 1324-1333, 2023 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36921087
4.
Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.
PLoS Genet
; 16(10): e1009100, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33085659
5.
Characterizing mucociliary clearance in young children with cystic fibrosis.
Pediatr Res
; 91(3): 612-620, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33753897
6.
Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.
PLoS Genet
; 14(11): e1007723, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30444886
7.
Caregivers in home palliative care: gender, psychological aspects, and patient's functional status as main predictors for their quality of life.
Support Care Cancer
; 28(7): 3227-3235, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31720824
8.
Efficiency of auricular acupuncture in climacteric symptoms after cancer treatments.
Climacteric
; 19(3): 274-8, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27102586
9.
Is oral chemotherapy prescription safe for patients? A cross-sectional survey.
Ann Oncol
; 25(2): 500-4, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24406423
10.
The clinical utility of sequencing the entirety of CFTR.
J Cyst Fibros
; 2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38734509
11.
Isoprene hydrocarbons production upon heterologous transformation of Saccharomyces cerevisiae.
J Appl Microbiol
; 113(1): 52-65, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22519412
12.
Silencing XIST on the future active X: Searching human and bovine preimplantation embryos for the repressor.
Eur J Hum Genet
; 2022 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35585273
13.
Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment.
J Cyst Fibros
; 21(3): 463-470, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34782259
14.
Comparing encounter-based and annualized chronic pseudomonas infection definitions in cystic fibrosis.
J Cyst Fibros
; 21(1): 40-44, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34393091
15.
CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor.
JCI Insight
; 7(6)2022 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35315358
16.
Cystic fibrosis transmembrane conductance regulator function, not TAS2R38 gene haplotypes, predict sinus surgery in children and young adults with cystic fibrosis.
Int Forum Allergy Rhinol
; 10(6): 748-754, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32282124
17.
Increased expression of anion transporter SLC26A9 delays diabetes onset in cystic fibrosis.
J Clin Invest
; 130(1): 272-286, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31581148
18.
Genetic Modifiers of Cystic Fibrosis-Related Diabetes Have Extensive Overlap With Type 2 Diabetes and Related Traits.
J Clin Endocrinol Metab
; 105(5)2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31697830
19.
High frequencies of short alleles of NOS1 (CA)n polymorphism in beta(0)39 carriers from Corsica Island (France).
Exp Mol Pathol
; 86(2): 136-7, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19103196
20.
Improved biomechanical metrics of cerebral vasospasm identified via sensitivity analysis of a 1D cerebral circulation model.
J Biomech
; 90: 24-32, 2019 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31064657