TY - STD TI - Bishop NB, Stankiewicz P, Steinhorn RH. Alveolar capillary dysplasia. Am J Respir Crit Care Med. 2011;184:172–9. ID - ref1 ER - TY - JOUR AU - Sen, P. AU - Yang, Y. AU - Navarro, C. AU - Silva, I. AU - Szafranski, P. AU - Kolodziejska, K. E. PY - 2013 DA - 2013// TI - Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain JO - Hum Mutat VL - 34 UR - https://doi.org/10.1002/humu.22313 DO - 10.1002/humu.22313 ID - Sen2013 ER - TY - JOUR AU - Szafranski, P. AU - Gambin, T. AU - Dharmadhikari, A. V. AU - Akdemir, K. C. AU - Jhangiani, S. N. AU - Schuette, J. PY - 2016 DA - 2016// TI - Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins JO - Hum Genet VL - 135 UR - https://doi.org/10.1007/s00439-016-1655-9 DO - 10.1007/s00439-016-1655-9 ID - Szafranski2016 ER - TY - JOUR AU - Szafranski, P. AU - Kośmider, E. AU - Liu, Q. AU - Karolak, J. A. AU - Currie, L. AU - Parkash, S. PY - 2018 DA - 2018// TI - LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV JO - HumMutat VL - 39 ID - Szafranski2018 ER - TY - JOUR AU - Madison, B. B. AU - McKenna, L. B. AU - Dolson, D. AU - Epstein, D. J. AU - Kaestner, K. H. PY - 2009 DA - 2009// TI - FoxF1 and FoxL1 link hedgehog signaling and the control of epithelial proliferation in the developing stomach and intestine JO - J Biol Chem VL - 284 UR - https://doi.org/10.1074/jbc.M808103200 DO - 10.1074/jbc.M808103200 ID - Madison2009 ER - TY - JOUR AU - Mahlapuu, M. AU - Enerbäck, S. AU - Carlsson, P. PY - 2001 DA - 2001// TI - Haploinsufficiency of the forkhead gene Foxf1, a target for sonic hedgehog signaling, causes lung and foregut malformations JO - Development. VL - 128 ID - Mahlapuu2001 ER - TY - JOUR AU - Shaw-Smith, C. PY - 2010 DA - 2010// TI - Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature JO - Eur J Med Genet VL - 53 UR - https://doi.org/10.1016/j.ejmg.2009.10.001 DO - 10.1016/j.ejmg.2009.10.001 ID - Shaw-Smith2010 ER - TY - JOUR AU - Hoganson, D. M. AU - Gazit, A. Z. AU - Sweet, S. C. AU - Grady, R. M. AU - Huddleston, C. B. AU - Eghtesady, P. PY - 2013 DA - 2013// TI - Neonatal Paracorporeal lung assist device for respiratory failure JO - Ann Thorac Surg VL - 95 UR - https://doi.org/10.1016/j.athoracsur.2012.05.128 DO - 10.1016/j.athoracsur.2012.05.128 ID - Hoganson2013 ER - TY - JOUR AU - Al-Hathlol, K. AU - Phillips, S. AU - Seshia, M. K. AU - Casiro, O. AU - Alvaro, R. E. AU - Rigatto, H. PY - 2000 DA - 2000// TI - Alveolar capillary dysplasia. Report of a case of prolonged life without extracorporeal membrane oxygenation (ECMO) and review of the literature JO - Early Hum Dev VL - 57 UR - https://doi.org/10.1016/S0378-3782(99)00065-1 DO - 10.1016/S0378-3782(99)00065-1 ID - Al-Hathlol2000 ER - TY - STD TI - Ahmed S, Ackerman V, Faught P, Langston C. Profound hypoxemia and pulmonary hypertension in a 7-month-old infant: late presentation of alveolar capillary dysplasia. Pediatr Crit Care Med. 2008;9(6):e43–6. ID - ref10 ER - TY - JOUR AU - Edwards, J. J. AU - Murali, C. AU - Pogoriler, J. AU - Frank, D. B. AU - Handler, S. S. AU - Deardorff, M. A. PY - 2019 DA - 2019// TI - Histopathologic and genetic features of alveolar capillary dysplasia with atypical late presentation and prolonged survival JO - J Pediatr VL - 210 UR - https://doi.org/10.1016/j.jpeds.2019.01.047 DO - 10.1016/j.jpeds.2019.01.047 ID - Edwards2019 ER - TY - JOUR AU - Towe, C. T. AU - White, F. V. AU - Grady, R. M. AU - Sweet, S. C. AU - Eghtesady, P. AU - Wegner, D. J. PY - 2018 DA - 2018// TI - Infants with atypical presentation of alveolar-capillary dysplasia with misalignment of pulmonary veins who underwent bilateral lung transplant JO - J Pediatr VL - 194 UR - https://doi.org/10.1016/j.jpeds.2017.10.026 DO - 10.1016/j.jpeds.2017.10.026 ID - Towe2018 ER - TY - STD TI - Granatowska D, Walas W, Jakuszewska E, Masełko J, Zembala-Nożyńska E, Śmigiel R, et al. Medycyna Wieku Rozwojowego. 2006;X4:1093–7. ID - ref13 ER - TY - JOUR AU - Szafranski, P. AU - Herrera, C. AU - Proe, L. A. AU - Coffman, B. AU - Kearney, D. L. AU - Popek, E. PY - 2016 DA - 2016// TI - Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPV JO - Clin Epigenetics VL - 8 UR - https://doi.org/10.1186/s13148-016-0278-2 DO - 10.1186/s13148-016-0278-2 ID - Szafranski2016 ER - TY - JOUR AU - Castilla-Fernandez, Y. AU - Copons-Fernandez, C. AU - Jordan-Lucas, R. AU - Linde-Sillo, A. AU - Valenzuela-Palafoll, I. AU - FerreresPinas, J. C. PY - 2013 DA - 2013// TI - Alveolar capillary dysplasia with misalignment of pulmonary veins: concordance between pathological and molecular diagnosis JO - J Perinatol VL - 33 UR - https://doi.org/10.1038/jp.2012.63 DO - 10.1038/jp.2012.63 ID - Castilla-Fernandez2013 ER - TY - JOUR AU - Langston, C. AU - Patterson, K. AU - Dishop, M. K. AU - Askin, F. AU - Baker, P. AU - Chou, P. PY - 2006 DA - 2006// TI - A protocol for the handling of tissue obtained by operative lung biopsy: recommendations of the chILD pathology co-operative group JO - Pediatr Dev Pathol VL - 9 UR - https://doi.org/10.2350/06-03-0065.1 DO - 10.2350/06-03-0065.1 ID - Langston2006 ER - TY - JOUR AU - Goel, D. AU - Oei, J. L. AU - Lui, K. AU - Ward, M. AU - Shand, A. W. AU - Mowat, D. PY - 2017 DA - 2017// TI - Antenatal gastrointestinal anomalies in neonates subsequently found to have alveolar capillary dysplasia JO - Clin Case Reports VL - 5 UR - https://doi.org/10.1002/ccr3.888 DO - 10.1002/ccr3.888 ID - Goel2017 ER - TY - JOUR AU - Melly, L. AU - Sebire, N. J. AU - Malone, M. AU - Nicholson, A. G. PY - 2008 DA - 2008// TI - Capillary apposition and density in the diagnosis of alveolar capillary dysplasia JO - Histopathology. VL - 53 UR - https://doi.org/10.1111/j.1365-2559.2008.03134.x DO - 10.1111/j.1365-2559.2008.03134.x ID - Melly2008 ER - TY - JOUR AU - Russo, P. AU - Franzoni, A. AU - Baldan, F. AU - Puppin, C. AU - Maglio, G. AU - Pittini, C. PY - 2015 DA - 2015// TI - A 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis JO - BMC Med Genet VL - 16 UR - https://doi.org/10.1186/s12881-015-0241-7 DO - 10.1186/s12881-015-0241-7 ID - Russo2015 ER - TY - JOUR AU - Bourque, D. K. AU - Fonseca, I. C. AU - Staines, A. AU - Teitelbaum, R. AU - Axford, M. M. AU - Jobling, R. PY - 2019 DA - 2019// TI - Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1 JO - Am J Med Genet A VL - 179 ID - Bourque2019 ER - TY - JOUR AU - Iascone, M. AU - Ciccone, R. AU - Galletti, L. AU - Marchetti, D. AU - Seddio, F. AU - Lincesso, A. R. PY - 2012 DA - 2012// TI - Identification of de novo mutations and rare variants in hypoplastic left heart syndrome JO - Clin Genet VL - 81 UR - https://doi.org/10.1111/j.1399-0004.2011.01674.x DO - 10.1111/j.1399-0004.2011.01674.x ID - Iascone2012 ER - TY - STD TI - Grote P, Wittler L, Hendrix D, Koch F, Währisch S, Beisaw A, et al. The tissue-specific lncRNA Fendrr is an essential regulator of heart andbody wall development in the mouse. Dev Cell. 2013;24:206–14. ID - ref22 ER - TY - JOUR AU - Yu, S. AU - Shao, L. AU - Kilbride, H. AU - Zwick, D. L. PY - 2010 DA - 2010// TI - Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease JO - Am J Med Genet A VL - 152A UR - https://doi.org/10.1002/ajmg.a.33378 DO - 10.1002/ajmg.a.33378 ID - Yu2010 ER - TY - JOUR AU - Stankiewicz, P. AU - Sen, P. AU - Bhatt, S. S. AU - Storer, M. AU - Xia, Z. AU - Bejjani, B. A. PY - 2009 DA - 2009// TI - Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations JO - Am J Hum Genet VL - 84 UR - https://doi.org/10.1016/j.ajhg.2009.05.005 DO - 10.1016/j.ajhg.2009.05.005 ID - Stankiewicz2009 ER -