Expanding the phenotype of alveolar capillary dysplasia (ACD).
about
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformationsInterstitial Lung Disease in Childhood: Clinical and Genetic AspectsAlveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV): A Case Series.Antenatal gastrointestinal anomalies in neonates subsequently found to have alveolar capillary dysplasia.Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary VeinsPathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veinsComparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout miceAlveolar capillary dysplasiaMolecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatelliteGenetic Basis of Children's Interstitial Lung Disease.Infants and Young Children with Children's Interstitial Lung Disease.A 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis.Recurrence of alveolar capillary dysplasia with misalignment of pulmonary veins in two consecutive siblingsMisplaced pulmonary arteries in an adult patient with pulmonary hypertension.Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder.Congenital alveolar capillary dysplasia and associated gastrointestinal anomalies.A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in humanMolecular mechanisms of pulmonary vascular development.Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.Pulmonary arterial hypertension from a pediatric perspective.Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPV.The Role of Serotonin Transporter in Human Lung Development and in Neonatal Lung Disorders.Neonatal pulmonary hypertension.Regulation of the pulmonary circulation in the fetus and newborn.16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newbornDiagnostic Pathology of Diffuse Lung Disease in Children.A SHH-FOXF1-BMP4 signaling axis regulating growth and differentiation of epithelial and mesenchymal tissues in ureter development.Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease.Application of microarray-based comparative genomic hybridization in prenatal and postnatal settings: three case reports.Expression of angiogenic and vasculogenic proteins in the lung in alveolar capillary dysplasia/misalignment of pulmonary veins: an immunohistochemical study.Development of pulmonary hypertension in an infant treated with diazoxide.Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation.Alveolar capillary dysplasia with misalignment of pulmonary [corrected] veins: concordance between pathological and molecular diagnosis.A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia.Diffuse lung disease in infancy: a proposed classification applied to 259 diagnostic biopsies.CRISPR/Cas9-mediated deletion of lncRNA Gm26878 in the distant Foxf1 enhancer region.Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins.Maternal somatic mosaicism of FOXF1 mutation causes recurrent alveolar capillary dysplasia with misalignment of pulmonary veins in siblings.Alveolar capillary dysplasia: absence of CD117 immunoreactivity of putative hemangioblast precursor cells.FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart disease
P2860
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P2860
Expanding the phenotype of alveolar capillary dysplasia (ACD).
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Expanding the phenotype of alveolar capillary dysplasia (ACD).
@ast
Expanding the phenotype of alveolar capillary dysplasia (ACD).
@en
type
label
Expanding the phenotype of alveolar capillary dysplasia (ACD).
@ast
Expanding the phenotype of alveolar capillary dysplasia (ACD).
@en
prefLabel
Expanding the phenotype of alveolar capillary dysplasia (ACD).
@ast
Expanding the phenotype of alveolar capillary dysplasia (ACD).
@en
P2093
P1476
Expanding the phenotype of alveolar capillary dysplasia (ACD).
@en
P2093
Bassem A Bejjani
Claire Langston
David W Stockton
Nivedita Thakur
Partha Sen
P304
P356
10.1016/J.JPEDS.2004.06.081
P407
P577
2004-11-01T00:00:00Z