Detalhe da pesquisa
1.
Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B.
Pediatr Nephrol
; 38(2): 605-609, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35695966
2.
The common ABCA3E292V variant disrupts AT2 cell quality control and increases susceptibility to lung injury and aberrant remodeling.
Am J Physiol Lung Cell Mol Physiol
; 321(2): L291-L307, 2021 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34132118
3.
Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).
Am J Med Genet A
; 185(7): 2190-2197, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33931933
4.
Functional characterization of four ATP-binding cassette transporter A3 gene (ABCA3) variants.
Hum Mutat
; 41(7): 1298-1307, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196812
5.
Functional Genomics of ABCA3 Variants.
Am J Respir Cell Mol Biol
; 63(4): 436-443, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32692933
6.
Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.
Am J Med Genet A
; 182(5): 1053-1065, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32083401
7.
Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure.
Am J Respir Cell Mol Biol
; 70(1): 78-80, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38156804
8.
Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation.
J Pediatr
; 194: 158-164.e1, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29198536
9.
Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome.
Am J Respir Cell Mol Biol
; 55(5): 716-721, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27374344
10.
Hepatic steatosis is prevalent in stillborns delivered to women with diabetes mellitus.
J Pediatr Gastroenterol Nutr
; 60(2): 152-8, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25079479
11.
Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins.
Am J Med Genet A
; 164A(8): 2013-9, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24842713
12.
Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype.
BMC Med Genet
; 14: 106, 2013 Oct 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-24103465
13.
Lysoptosis is an evolutionarily conserved cell death pathway moderated by intracellular serpins.
Commun Biol
; 5(1): 47, 2022 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35022507
14.
Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review.
BMC Blood Disord
; 11: 3, 2011 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21676225
15.
Death due to asthma in two adolescents with sickle cell disease.
Pediatr Blood Cancer
; 56(3): 454-7, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21113938
16.
Granulomatous lymphangitis.
J Urol
; 190(3): 1052-3, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23773564
17.
Granulocyte macrophage colony-stimulating factor ameliorates DSS-induced experimental colitis.
Inflamm Bowel Dis
; 14(1): 88-99, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17932977
18.
Diffuse lung disease in young children: application of a novel classification scheme.
Am J Respir Crit Care Med
; 176(11): 1120-8, 2007 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17885266
19.
Differentiation of Human Pluripotent Stem Cells into Functional Lung Alveolar Epithelial Cells.
Cell Stem Cell
; 21(4): 472-488.e10, 2017 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28965766
20.
Early-onset hepatic fibrosis in lysinuric protein intolerance.
J Pediatr Gastroenterol Nutr
; 53(6): 695-8, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21716135