Detalhe da pesquisa
1.
Genetics of human telomere biology disorders.
Nat Rev Genet
; 24(2): 86-108, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36151328
2.
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.
Hum Mol Genet
; 33(7): 612-623, 2024 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38176734
3.
Somatic genetic rescue in Mendelian haematopoietic diseases.
Nat Rev Genet
; 20(10): 582-598, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31186537
4.
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
5.
Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects.
Blood
; 139(16): 2427-2440, 2022 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35007328
6.
Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue.
Blood
; 139(7): 1039-1051, 2022 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34767620
7.
Differential diagnosis of small hepatocellular nodules in cirrhosis: surrogate histological criteria of TERT promoter mutations.
Histopathology
; 84(3): 473-481, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37903649
8.
European Respiratory Society statement on familial pulmonary fibrosis.
Eur Respir J
; 61(3)2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36549714
9.
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.
Hum Mol Genet
; 29(6): 907-922, 2020 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31985013
10.
Determinants of survival after lung transplantation in telomerase-related gene mutation carriers: A retrospective cohort.
Am J Transplant
; 22(4): 1236-1244, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34854205
11.
Leukocyte telomere length, allelic variations in related genes and risk of coronary heart disease in people with long-standing type 1 diabetes.
Cardiovasc Diabetol
; 21(1): 206, 2022 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36221106
12.
Genetic testing in interstitial lung disease: An international survey.
Respirology
; 27(9): 747-757, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35652243
13.
Interstitial lung diseases associated with mutations of poly(A)-specific ribonuclease: A multicentre retrospective study.
Respirology
; 27(3): 226-235, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34981600
14.
Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study.
Respiration
; 101(6): 531-543, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35078193
15.
TERT Promoter Mutations as Simple and Non-Invasive Urinary Biomarkers for the Detection of Urothelial Bladder Cancer in a High-Risk Region.
Int J Mol Sci
; 23(22)2022 Nov 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36430798
16.
MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease.
N Engl J Med
; 379(23): 2209-2219, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30345907
17.
Methotrexate and rheumatoid arthritis associated interstitial lung disease.
Eur Respir J
; 57(2)2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32646919
18.
EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.
Blood
; 134(3): 277-290, 2019 07 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-31151987
19.
Genetic landscape of adult Langerhans cell histiocytosis with lung involvement.
Eur Respir J
; 55(2)2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31806714
20.
Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer.
Eur Respir J
; 56(6)2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32855221