相似文献
1
Alveolar capillary dysplasia.肺泡毛细血管发育不良。
Am J Respir Crit Care Med. 2011 Jul 15;184(2):172-9. doi: 10.1164/rccm.201010-1697CI. Epub 2011 Mar 11.
2
A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.一名患有肺泡毛细血管发育不良伴肺静脉错位的新生儿中FOXF1基因的一种新型新生致病性变异
Yonsei Med J. 2017 May;58(3):672-675. doi: 10.3349/ymj.2017.58.3.672.
3
Intrapulmonary vascular shunt pathways in alveolar capillary dysplasia with misalignment of pulmonary veins.肺静脉排列异常所致肺泡毛细血管发育不良中的肺内血管分流途径
Thorax. 2015 Jan;70(1):84-5. doi: 10.1136/thoraxjnl-2014-205851. Epub 2014 Jul 21.
4
A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary veins, intestinal malrotation and annular pancreas.与肺静脉异位连接、肠旋转不良和环状胰腺相关的 FOXF1 基因突变。
Neonatology. 2013;103(4):241-5. doi: 10.1159/000346062. Epub 2013 Feb 12.
5
Genome wide DNA methylation analysis of alveolar capillary dysplasia lung tissue reveals aberrant methylation of genes involved in development including the FOXF1 locus.对肺泡毛细血管发育不良肺组织的全基因组 DNA 甲基化分析显示，包括 FOXF1 基因座在内的发育相关基因出现异常甲基化。
Clin Epigenetics. 2021 Jul 29;13(1):148. doi: 10.1186/s13148-021-01134-1.
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De Novo mutation of FOXF1 causes alveolar capillary dysplasia with misalignment of pulmonary veins: A case report.FOXF1 新生突变导致肺静脉错位的肺泡毛细血管发育不良：病例报告。
Medicine (Baltimore). 2021 Apr 9;100(14):e25375. doi: 10.1097/MD.0000000000025375.
7
Three-dimensional reconstruction identifies misaligned pulmonary veins as intrapulmonary shunt vessels in alveolar capillary dysplasia.三维重建识别出肺静脉错位为肺泡毛细血管发育不良的肺内分流血管。
J Pediatr. 2014 Jan;164(1):192-5. doi: 10.1016/j.jpeds.2013.08.035. Epub 2013 Sep 27.
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Histopathologic features of alveolar capillary dysplasia with misalignment of pulmonary veins with atypical clinical presentation.肺泡毛细血管发育不良伴肺静脉错位的组织病理学特征，伴有非典型临床表现。
Cardiovasc Pathol. 2021 Jan-Feb;50:107289. doi: 10.1016/j.carpath.2020.107289. Epub 2020 Sep 16.
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Two autopsy cases of siblings with alveolar capillary dysplasia: clinical and post-mortem issues.两例肺泡毛细血管发育不良的同胞兄妹尸检病例：临床和死后问题。
Forensic Sci Med Pathol. 2020 Mar;16(1):180-183. doi: 10.1007/s12024-019-00153-y. Epub 2019 Sep 11.
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A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia.一种与肺泡毛细血管发育异常、并存的视网膜缺损和半侧肥大相关的新型FOXF1突变。
J Perinatol. 2015 Feb;35(2):155-7. doi: 10.1038/jp.2014.187.
引用本文的文献
1
Prenatal Rare 16q24.1 Deletion Between Genomics and Epigenetics: A Review.产前罕见的16号染色体长臂24.1区缺失：基因组学与表观遗传学之间的综述
Genes (Basel). 2025 Jul 24;16(8):873. doi: 10.3390/genes16080873.
2
The Glu86 Residue in TBX4 Proves Critical for Human Lung Development.TBX4 中的谷氨酸86残基对人类肺部发育至关重要。
Am J Med Genet A. 2025 Mar;197(3):e63936. doi: 10.1002/ajmg.a.63936. Epub 2024 Nov 17.
3
The molecular consequences of FOXF1 missense mutations associated with alveolar capillary dysplasia with misalignment of pulmonary veins.FOXF1 错义突变与肺静脉异位连接性肺泡毛细血管发育不良相关的分子后果。
J Biomed Sci. 2024 Nov 4;31(1):100. doi: 10.1186/s12929-024-01088-5.
4
Comparison of Clinical Diagnosis and Autopsy Findings of Early Neonatal Deaths: Diagnostic Challenges and the Value of Autopsy in Identifying Rare Pathologies.早期新生儿死亡的临床诊断与尸检结果对比：诊断挑战及尸检在识别罕见病理情况中的价值
Pediatr Dev Pathol. 2025 Jan-Feb;28(1):38-45. doi: 10.1177/10935266241288869. Epub 2024 Oct 11.
5
Morphological and molecular aspects of lung development.肺发育的形态学和分子学方面
Histol Histopathol. 2025 Apr;40(4):411-430. doi: 10.14670/HH-18-807. Epub 2024 Sep 4.
6
Beyond Bronchopulmonary Dysplasia: A Comprehensive Review of Chronic Lung Diseases in Neonates.超越支气管肺发育不良：新生儿慢性肺部疾病综合综述
Cureus. 2024 Jul 18;16(7):e64804. doi: 10.7759/cureus.64804. eCollection 2024 Jul.
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Pulmonary fibrosis may begin in infancy: from childhood to adult interstitial lung disease.肺纤维化可能始于婴儿期：从儿童到成人的间质性肺疾病。
Thorax. 2024 Nov 14;79(12):1162-1172. doi: 10.1136/thorax-2024-221772.
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An interdisciplinary consensus approach to pulmonary hypertension in developmental lung disease.发育性肺疾病相关肺动脉高压的跨学科共识方法。
Eur Respir J. 2024 Sep 26;64(3). doi: 10.1183/13993003.00639-2024. Print 2024 Sep.
9
Innovations in Childhood Interstitial and Diffuse Lung Disease.儿童间质性和弥漫性肺病的创新。
Clin Chest Med. 2024 Sep;45(3):695-715. doi: 10.1016/j.ccm.2024.04.002.
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Interstitial lung disease in the newborn.新生儿间质性肺疾病
J Perinatol. 2025 Jan;45(1):13-23. doi: 10.1038/s41372-024-02036-9. Epub 2024 Jul 2.
本文引用的文献
1
Omphalocele and alveolar capillary dysplasia: a new association.脐膨出和肺泡毛细血管发育不良：一种新的关联。
Pediatr Crit Care Med. 2010 May;11(3):e36-7. doi: 10.1097/PCC.0b013e3181b80a75.
2
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.SETBP1 基因中的新生突变导致辛基尔-吉迪恩综合征。
Nat Genet. 2010 Jun;42(6):483-5. doi: 10.1038/ng.581. Epub 2010 May 2.
3
Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease.FOXF1 和 FOXC2 基因的杂合缺失与致死性肺泡毛细血管发育不良和先天性心脏病有关。
Am J Med Genet A. 2010 May;152A(5):1257-62. doi: 10.1002/ajmg.a.33378.
4
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.对一名遗传性运动感觉神经病患者进行全基因组测序。
N Engl J Med. 2010 Apr 1;362(13):1181-91. doi: 10.1056/NEJMoa0908094. Epub 2010 Mar 10.
5
Misplaced pulmonary arteries in an adult patient with pulmonary hypertension.肺动脉错位在肺动脉高压成年患者中的表现。
Br J Radiol. 2010 Jan;83(985):e5-9. doi: 10.1259/bjr/21363936.
6
Exome sequencing identifies the cause of a mendelian disorder.外显子组测序确定了一种孟德尔疾病的病因。
Nat Genet. 2010 Jan;42(1):30-5. doi: 10.1038/ng.499. Epub 2009 Nov 13.
7
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.16号染色体长臂24.1区域FOX基因簇的基因组和基因缺失以及FOXF1的失活突变会导致肺泡毛细血管发育异常和其他畸形。
Am J Hum Genet. 2009 Jun;84(6):780-91. doi: 10.1016/j.ajhg.2009.05.005. Epub 2009 Jun 4.
8
Profound hypoxemia and pulmonary hypertension in a 7-month-old infant: late presentation of alveolar capillary dysplasia.一名7个月大婴儿出现严重低氧血症和肺动脉高压：肺泡毛细血管发育不良的晚期表现
Pediatr Crit Care Med. 2008 Nov;9(6):e43-6. doi: 10.1097/PCC.0b013e31818e383e.
9
Capillary apposition and density in the diagnosis of alveolar capillary dysplasia.肺泡毛细血管发育不良诊断中的毛细血管贴附和密度
Histopathology. 2008 Oct;53(4):450-7. doi: 10.1111/j.1365-2559.2008.03134.x.
10
Congenital alveolar dysplasia of the lungs.先天性肺肺泡发育不良
Am J Pathol. 1948 Jul;24(4):919-31.
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