Detalhe da pesquisa
1.
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
2.
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
3.
Multigram-scale enzymatic kinetic resolution of trans-2-azidocyclohexyl acetate and chiral reversed-phase HPLC analysis of trans-2-azidocyclohexanol.
Chirality
; 34(2): 428-437, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34813115
4.
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
5.
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
6.
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
7.
Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung development.
J Med Genet
; 57(5): 296-300, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31662342
8.
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
Am J Hum Genet
; 101(4): 503-515, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28942966
9.
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
10.
The S52F FOXF1 Mutation Inhibits STAT3 Signaling and Causes Alveolar Capillary Dysplasia.
Am J Respir Crit Care Med
; 200(8): 1045-1056, 2019 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31199666
11.
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
12.
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
13.
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
14.
Mechanisms for Complex Chromosomal Insertions.
PLoS Genet
; 12(11): e1006446, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27880765
15.
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
16.
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
17.
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
18.
Evolutionarily recent, insertional fission of mitochondrial cox2 into complementary genes in bilaterian Metazoa.
BMC Genomics
; 18(1): 269, 2017 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-28359330
19.
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
Hum Genet
; 136(4): 377-386, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28251352
20.
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.
Am J Hum Genet
; 95(2): 173-82, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25087610