Zobrazeno 1 - 10
of 160
pro vyhledávání: '"Claire, Langston"'
Autor:
Partha Sen, Avinash V Dharmadhikari, Tadeusz Majewski, Mahmoud A Mohammad, Tanya V Kalin, Joanna Zabielska, Xiaomeng Ren, Molly Bray, Hannah M Brown, Stephen Welty, Sundararajah Thevananther, Claire Langston, Przemyslaw Szafranski, Monica J Justice, Vladimir V Kalinichenko, Anna Gambin, John Belmont, Pawel Stankiewicz
Publikováno v:
PLoS ONE, Vol 9, Iss 4, p e94390 (2014)
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACDMPV) is a developmental disorder of the lungs, primarily affecting their vasculature. FOXF1 haploinsufficiency due to heterozygous genomic deletions and point mutations have been r
Externí odkaz:
https://doaj.org/article/d0e86bcc7455499897c0be8da516e028
Publikováno v:
Canadian Respiratory Journal, Vol 2017 (2017)
Canadian Respiratory Journal
Canadian Respiratory Journal
Introduction.Failure of the vascular pulmonary remodeling at birth often manifests as pulmonary hypertension (PHT) and is associated with a variety of neonatal lung disorders including a uniformly fatal developmental disorder known as alveolar capill
Autor:
Robin Abel, Steven H. Abman, Eric Alton, Daniel R. Ambruso, William Carl Anderson, Karthik Balakrishnan, Ian Michael Balfour-Lynn, Anna Bamford, Ronen Bar-Yoseph, Erika Berman-Rosenzweig, Deepika Bhatla, Joshua A. Blatter, R. Paul Boesch, Matias Bruzoni, Andrew Bush, Michael Bye, Kai Håkon Carlsen, Anne B. Chang, Stephanie D. Chao, Michelle Chatwin, Bimal Pankaj Chaudhari, Lyn Chitty, Nicola Collins, Dan M. Cooper, Jonathan Corren, Robin T. Cotton, Andrea Coverstone, Suzanne Crowley, Steve Cunningham, Garry R. Cutting, Dorottya Czovek, Charles L. Daley, Gwyneth Davies, Jane C. Davies, Alessandro de Alarcòn, Emily M. DeBoer, Marietta Morales De Guzman, Sharon D. Dell, Robin Deterding, Gail H. Deutsch, Sunalene Devadason, William Graham Fox Ditcham, Jill Dorsey, Francine M. Ducharme, John Engelhardt, Mark L. Everard, Leland L. Fan, Albert Faro, Thomas Ferkol, Louise Fleming, Angela Mary Fonceca, Hammad A. Ganatra, Amy Michelle Garcia, David Gozal, Diane Gray, Anne Greenough, Uta Griesenbach, Jonathan Grigg, James S. Hagood, Jürg Hammer, Aaron Hamvas, Jonny Harcourt, Pia J. Hauk, Ulrich Heininger, Alexander John Henderson, Marianna M. Henry, Richard J. Hewitt, Heather Young Highsmith, Noah H. Hillman, Heather Ellen Hoch, Jeong S. Hyun, Mas Suhaila Isa, Adam Jaffé, Lance C. Jennings, Alan H. Jobe, Ankur A. Kamdar, Bhushan Katira, Brian P. Kavanagh, James Kemp, Carolyn M. Kercsmar, Leila Kheirandish-Gozal, Wilson King, Paul Kingma, Jennifer Knight-Madden, Alan Paul Knutsen, Alik Kornecki, Usha Krishnan, Geoffrey Kurland, Hugh Simon Lam, Claire Langston, Ada Lee, Margaret W. Leigh, Daniel Lesser, Clare M. Lloyd, Anna Maria Mandalakas, Paulo J.C. Marostica, Stacey L. Martiniano, Jennifer Maybee, Karen M. McDowell, Peter Michelson, Aaron Samuel Miller, Claire Kane Miller, Ayesha Mirza, David R. Murdoch, Christopher J.L. Newth, Andrew Gordon Nicholson, Jerry A. Nick, Christina J. Nicolais, Terry L. Noah, Lawrence M. Nogee, Blakeslee Noyes, Andrew H. Numa, Ann-Christine Nyquist, Hugh O'Brodovich, Matthias Ochs, J. Tod Olin, Øystein Olsen, Catherine Owens, Howard B. Panitch, Hans Pasterkamp, Donald Payne, Scott Pentiuk, Jeremy Prager, Jean-Paul Praud, Andrew P. Prayle, Bernadette Prentice, Philip E. Putnam, Alexandra L. Quittner, Shlomit Radom-Aizik, Suchitra Rao, Mobeen Rathore, Gregory J. Redding, Michael Rutter, Estefany Saez-Flores, Sejal Saglani, Rayfel Schneider, Kenneth O. Schowengerdt, Marcelo C. Scotta, Thomas Semple, Laurie Sherlock, Ram N. Singh, Raymond G. Slavin, Peter Sly, Bjarne Smevik, Keely Garrett Smith, Jonathan Spahr, James M. Stark, Jeffrey R. Starke, Renato T. Stein, Paul C. Stillwell, Dennis C. Stokes, Daniel T. Swarr, Stuart Charles Sweet, Stanley James Szefler, Paul Tambyah, Christelle Xian-Ting Tan, James Temprano, Chad M. Thorson, Bruce C. Trapnell, Brian Michael Varisco, Timothy J. Vece, Harish G. Vyas, Ruth Wakeman, Colin Wallis, Jennifer Wambach, Daniel J. Weiner, Anja M. Werno, Susan E. Wert, Jeffrey A. Whitsett, Robert William Wilmott, Robert E. Wood, Christopher Todd Wootten, Marie Wright, Sarah Wright, Rae S.M. Yeung, Takeshi Yoshida, Carolyn Young, Lisa R. Young, Heather J. Zar, Pamela Leslie Zeitlin, David Zielinski
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::34d96ab4068e695d68baf2fc1b6f5cab
https://doi.org/10.1016/b978-0-323-44887-1.00085-7
https://doi.org/10.1016/b978-0-323-44887-1.00085-7
Autor:
David Francis, Yves Sznajer, Lieve Vanwalleghem, Jennifer Kussmann, David A. Bateman, Gael E. Phillips, Scott A. Anderson, Elizabeth K. Fiorino, Przemyslaw Szafranski, Kamilla Schlade-Bartusiak, Neil J. Sebire, Pablo Lapunzina, Maya Chopra, Urvashi Surti, Isabelle Maystadt, Oliver Quarrell, Partha Sen, Jill Slamon, Avinash V. Dharmadhikari, Philippe Moerman, Liesbeth Spruijt, Dick Tibboel, Susan Arbuckle, Glenda Hendson, Jennifer Schuette, Nicole de Leeuw, Melissa Lees, Namasivayam Ambalavanan, Annelies de Klein, Svetlana A. Yatsenko, Joel Reiter, Joseph T. Shieh, Sandra Janssens, Gregory Peters, Jessica Sebastian, David R. Kelly, Eitan Kerem, Janet Lioy, Martina Owens, Gary Tsz Kin Mok, Carlos A. Bacino, Amy S. Lay, Shalini N. Jhangiani, Suneeta Madan-Khetarpal, Björn Menten, Elizabeth Roeder, Kadir C. Akdemir, Denise A. Hayes, Laurie A. Steiner, Taryn C. Rosenthal, Richard Sayers, Fernando Santos-Simarro, Ashley Wilson, Joyce E. Fox, Yoyo W. Y. Chu, Richard Fisher, Rebecca O. Littlejohn, Daynna J. Wolff, Wai Lap Wong, Timothy Thiruchelvam, Kristin Scheible, Zoe Mead, Eileen McKay, M. Anwar Iqbal, Erwin Brosens, Melinda H. Markham, Julián Nevado, Anne Loccufier, Rosanna G. Abellar, Tomasz Gambin, Charles Shaw-Smith, Alison Yeung, Pawel Stankiewicz, Nihal Godiwala, Elfride De Baere, Ilse Feenstra, Diane J. Payton, Girvan Malcolm, María Palomares, Morris Edelman, Claire Langston, Thomas S. DeNapoli, Margaret L. McKinnon, Carol L. Wagner, Brian H.Y. Chung, James R. Lupski, Dawn English, Alison Male, Edwina J. Popek, Frances Elmslie, Jasneek Chawla, Sara Jane Hamilton, Jason Pinner
Publikováno v:
Human Genetics, 135, 5, pp. 569-86
Human Genetics, 135(5), 569-586. Springer-Verlag
Human Genetics, 135, 569-86
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Human Genetics, 135(5), 569-586. Springer-Verlag
Human Genetics, 135, 569-86
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Contains fulltext : 168023.pdf (Publisher’s version ) (Closed access) Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy
Autor:
Geoffrey, Kurland, Robin R, Deterding, James S, Hagood, Lisa R, Young, Alan S, Brody, Robert G, Castile, Sharon, Dell, Leland L, Fan, Aaron, Hamvas, Bettina C, Hilman, Claire, Langston, Lawrence M, Nogee, Gregory J, Redding, Andrew, Bush
Publikováno v:
American Journal of Respiratory and Critical Care Medicine. 188:376-394
There is growing recognition and understanding of the entities that cause interstitial lung disease (ILD) in infants. These entities are distinct from those that cause ILD in older children and adults.A multidisciplinary panel was convened to develop
Autor:
Ali Moussavi Nik, Toshima Z. Parris, Sailesh Kotecha, Khalil Helou, Craig Platt, Claire Langston, Peter Carlsson
Publikováno v:
American Journal of Medical Genetics Part A. 161:764-770
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a congenital malformation that leads to severe pulmonary hypertension and respiratory failure. It has been associated with deletion of, or mutation in, FOXF1 on 16q24.1, a
Autor:
Aaron Hamvas, Mariarosaria Cervasio, Francesca Santamaria, Timothy J. Vece, Silvia Montella, Paola Carrera, Angelo Manna, Claire Langston, Lawrence M. Nogee
Publikováno v:
Italian Journal of Pediatrics
Surfactant metabolism disorders may result in diffuse lung disease in children.We report a 3-years-old boy with dry cough, progressive hypoxemia, dyspnea and bilateral ground glass opacities at chest high-resolution computed tomography (HRCT) who had
Autor:
Gail H. Deutsch, Megan K. Dishop, Leland L. Fan, Lene Agergaard Kristensen, Kim G. Nielsen, Bodil Laub Petersen, Claire Langston, Frederik Buchvald, Karen Damgaard, Robin R. Deterding
Publikováno v:
Pediatric Pulmonology. 46:1098-1107
Summary. Background: Hypersensitivity pneumonitis is a rare interstitial lung disease and very few data regarding frequency, treatment and outcome exist for children. Children identified with hypersensitivity pneumonia from a Danish national cohort w
Autor:
James D. Acton, Ronald E. Bokulic, Thomas H. Inge, Gail H. Deutsch, Claire Langston, Alan S. Brody, Lisa R. Young
Publikováno v:
Chest. 139:1060-1071
Background The diagnostic gold standard for neuroendocrine cell hyperplasia of infancy (NEHI) is demonstration of increased numbers of neuroendocrine cells (NECs) amid otherwise near-normal lung histology. Typical clinical and radiographic features o
Publikováno v:
Pediatric and Developmental Pathology. 13:354-361
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, universally fatal developmental disorder of the lung affecting both the parenchyma and the vasculature. Its cause remains incompletely understood; the occurrence o