Detalhe da pesquisa
1.
High risk of lung cancer in surfactant-related gene variant carriers.
Eur Respir J
; 63(5)2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38575158
2.
Association analysis of the surfactant protein-C gene to childhood asthma.
J Asthma
; 59(1): 1-11, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32962475
3.
Methylprednisolone pulse treatment improves ProSP-C trafficking in twins with SFTPC mutation: An isoform story?
Br J Clin Pharmacol
; 87(5): 2361-2373, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33179299
4.
Structure-Based Understanding of ABCA3 Variants.
Int J Mol Sci
; 22(19)2021 Sep 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34638622
5.
Small Hsps as Therapeutic Targets of Cystic Fibrosis Transmembrane Conductance Regulator Protein.
Int J Mol Sci
; 22(8)2021 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33923911
6.
Extracardiac soft tissue uptake, evidenced on early 99mTc-HMDP SPECT/CT, helps typing cardiac amyloidosis and demonstrates high prognostic value.
Eur J Nucl Med Mol Imaging
; 47(10): 2396-2406, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32157431
7.
Phosphorylation of the Chaperone-Like HspB5 Rescues Trafficking and Function of F508del-CFTR.
Int J Mol Sci
; 21(14)2020 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32650630
8.
Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules.
Hum Mutat
; 39(4): 506-514, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29271547
9.
Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis.
Br J Haematol
; 201(4): e46-e49, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36928866
10.
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Hum Mutat
; 38(10): 1297-1315, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28603918
11.
Instability of Mature ABCA3 Protein: Toward a New Classification of ABCA3 Mutations?
Am J Respir Cell Mol Biol
; 67(5): 602-605, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36318016
12.
Acquired spherocytosis due to somatic ANK1 mutations as a manifestation of clonal hematopoiesis in elderly patients.
Am J Hematol
; 97(8): E285-E288, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35560067
13.
Multiple thrombosis in a patient with Gardos channelopathy and a new KCNN4 mutation.
Am J Hematol
; 96(9): E318-E321, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34004026
14.
VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis.
Am J Hematol
; 96(4): E121-E123, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33460484
15.
Interstitial lung disease reveals 48,XXYY syndrome in a child.
Acta Paediatr
; 109(5): 1060-1061, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31721284
16.
Identification of a novel 5' alternative CFTR mRNA isoform in a patient with nasal polyposis and CFTR mutations.
Hum Mutat
; 35(7): 805-8, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24633926
17.
Alternative splicing of in-frame exon associated with premature termination codons: implications for readthrough therapies.
Hum Mutat
; 34(2): 287-91, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23065710
18.
Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping level.
Hum Mutat
; 34(6): 873-81, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23420618
19.
Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.
PLoS Genet
; 6(10)2010 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-20949073
20.
Inherited pulmonary surfactant metabolism disorders in Argentina: Differences between patients with SFTPC and ABCA3 variants.
Pediatr Pulmonol
; 58(2): 540-549, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36324278