Detalhe da pesquisa
1.
A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia.
Clin Genet
; 105(2): 190-195, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37821225
2.
Molecular Function and Contribution of TBX4 in Development and Disease.
Am J Respir Crit Care Med
; 207(7): 855-864, 2023 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36367783
3.
Single Cell Multiomics Identifies Cells and Genetic Networks Underlying Alveolar Capillary Dysplasia.
Am J Respir Crit Care Med
; 208(6): 709-725, 2023 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37463497
4.
Diminished TMEM100 Expression in a Newborn With Acinar Dysplasia and a Novel TBX4 Variant: A Case Report.
Pediatr Dev Pathol
; : 10935266231213464, 2023 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38044468
5.
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Am J Hum Genet
; 104(2): 213-228, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30639323
6.
Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant.
Am J Med Genet A
; 188(5): 1420-1425, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35075769
7.
Lung-specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR.
Hum Mutat
; 42(6): 694-698, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33739555
8.
Influence of TGFBR2, TGFB3, DNMT1, and DNMT3A Knockdowns on CTGF, TGFBR2, and DNMT3A in Neonatal and Adult Human Dermal Fibroblasts Cell Lines.
Curr Issues Mol Biol
; 43(1): 276-285, 2021 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34204856
9.
Potential interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq.
Respir Res
; 22(1): 26, 2021 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33478486
10.
Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency.
Respir Res
; 22(1): 212, 2021 Jul 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34315444
11.
Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings.
Genomics
; 112(5): 2937-2941, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32387503
12.
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions.
Genet Med
; 22(11): 1768-1776, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32655138
13.
Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders.
Am J Respir Crit Care Med
; 200(9): 1093-1101, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31189067
14.
Genotype-phenotype correlation in two Polish neonates with alveolar capillary dysplasia.
BMC Pediatr
; 20(1): 320, 2020 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32600276
15.
Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype.
Hum Genet
; 138(11-12): 1301-1311, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31686214
16.
Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity.
Clin Genet
; 96(4): 366-370, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31309540
17.
A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins.
Am J Med Genet A
; 179(11): 2272-2276, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31436901
18.
LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV.
Hum Mutat
; 39(12): 1916-1925, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30084155
19.
Transcriptome and Immunohistochemical Analyses in TBX4- and FGF10-Deficient Lungs Imply TMEM100 as a Mediator of Human Lung Development.
Am J Respir Cell Mol Biol
; 66(6): 694-697, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35648090
20.
Genomic strategies to understand causes of keratoconus.
Mol Genet Genomics
; 292(2): 251-269, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28032277