PMC Links for Books (Select 1467068) - PMC

Select item 63017211.

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders

Hongjian Qi, Lan Yu, Xueya Zhou, Julia Wynn, Haoquan Zhao, Yicheng Guo, Na Zhu, Alexander Kitaygorodsky, Rebecca Hernan, Gudrun Aspelund, Foong-Yen Lim, Timothy Crombleholme, Robert Cusick, Kenneth Azarow, Melissa E. Danko, Dai Chung, Brad W. Warner, George B. Mychaliska, Douglas Potoka, Amy J. Wagner, Mahmoud ElFiky, Jay M. Wilson, Debbie Nickerson, Michael Bamshad, Frances A. High, Mauro Longoni, Patricia K. Donahoe, Wendy K. Chung, Yufeng Shen

PLoS Genet. 2018 Dec; 14(12): e1007822. Published online 2018 Dec 10. doi: 10.1371/journal.pgen.1007822

PMCID:: PMC6301721

Abstract Article PDF–2.7M

Select item 61731942.

Comparing percutaneous to open access for extracorporeal membrane oxygenation in pediatric respiratory failure

Sarah B Cairo, Mary Arbuthnot, Laura Boomer, Michael W Dingeldein, Alexander Feliz, Samir Gadepalli, Christopher R Newton, Pramod Puligandla, Robert Ricca, Jr, Peter Rycus, Adam M. Vogel, Guan Yu, Ziqiang Chen, David H Rothstein

Pediatr Crit Care Med. Author manuscript; available in PMC 2019 Oct 1.

Published in final edited form as: Pediatr Crit Care Med. 2018 Oct; 19(10): 981–991. doi: 10.1097/PCC.0000000000001691

PMCID:: PMC6173194

Abstract Article PDF–465K

Select item 60336923.

Prenatal Diagnosis of Congenital Diaphragmatic Hernia: Does Laterality Predict Perinatal Outcomes?

Jeffrey D. Sperling, Teresa N. Sparks, Victoria K. Berger, Jody A. Farrell, Kristen Gosnell, Roberta L. Keller, Mary E. Norton, Juan M. Gonzalez

Am J Perinatol. Author manuscript; available in PMC 2019 Aug 1.

Published in final edited form as: Am J Perinatol. 2018 Aug; 35(10): 919–924. Published online 2018 Jan 5. doi: 10.1055/s-0037-1617754

PMCID:: PMC6033692

Abstract Article PDF–73K

Select item 59857204.

The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia

Valerie K Jordan, Tyler F Beck, Andres Hernandez-Garcia, Peter N Kundert, Bum-Jun Kim, Shalini N Jhangiani, Tomasz Gambin, Molly Starkovich, Jaya Punetha, Ingrid S Paine, Jennifer E Posey, Alexander H Li, Donna Muzny, Chih-Wei Hsu, Amber J Lashua, Xin Sun, Caraciolo J Fernandes, Mary E Dickinson, Kevin P Lally, Richard A Gibbs, Eric Boerwinkle, James R Lupski, Daryl A Scott

Hum Mol Genet. 2018 Jun 15; 27(12): 2064–2075. Published online 2018 Mar 28. doi: 10.1093/hmg/ddy110

PMCID:: PMC5985720

Abstract Article PDF–810K

Select item 57852695.

PBX transcription factors drive pulmonary vascular adaptation to birth

David J. McCulley, Mark D. Wienhold, Elizabeth A. Hines, Timothy A. Hacker, Allison Rogers, Ryan J. Pewowaruk, Rediet Zewdu, Naomi C. Chesler, Licia Selleri, Xin Sun

J Clin Invest. 2018 Feb 1; 128(2): 655–667. Published online 2017 Dec 18. doi: 10.1172/JCI93395

PMCID:: PMC5785269

Abstract Article PDF–13M

Select item 54537166.

Genome-wide enrichment of damaging de novo variants in patients with isolated and complex Congenital Diaphragmatic Hernia

Mauro Longoni, Frances A. High, Hongjian Qi, Maliackal P. Joy, Regis Hila, Caroline M. Coletti, Julia Wynn, Maria Loscertales, Linshan Shan, Carol J. Bult, Jay M. Wilson, Yufeng Shen, Wendy K. Chung, Patricia K. Donahoe

Hum Genet. Author manuscript; available in PMC 2018 Jun 1.

Published in final edited form as: Hum Genet. 2017 Jun; 136(6): 679–691. Published online 2017 Mar 16. doi: 10.1007/s00439-017-1774-y

PMCID:: PMC5453716

Abstract Article PDF–849K

Select item 44147957.

Muscle connective tissue controls development of the diaphragm and is a source of congenital diaphragmatic hernias

Allyson J. Merrell, Benjamin J. Ellis, Zachary D. Fox, Jennifer A. Lawson, Jeffrey A. Weiss, Gabrielle Kardon

Nat Genet. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Nat Genet. 2015 May; 47(5): 496–504. Published online 2015 Mar 25. doi: 10.1038/ng.3250

PMCID:: PMC4414795

Abstract Article PDF–5.2M

Select item 44107678.

Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia

M. Longoni, M.K. Russell, F.A. High, K. Darvishi, F.I. Maalouf, A. Kashani, A.A. Tracy, C.M. Coletti, M. Loscertales, K. Lage, K.G. Ackerman, S.A. Woods, C. Ward-Melver, D. Andrews, C. Lee, B.R. Pober, P.K. Donahoe

Clin Genet. Author manuscript; available in PMC 2015 Apr 27.

Published in final edited form as: Clin Genet. 2015 Apr; 87(4): 362–367. Published online 2014 Apr 26. doi: 10.1111/cge.12395

PMCID:: PMC4410767

Abstract Article PDF–558K

Select item 35705879.

Variants in GATA4 Are a Rare Cause of Familial and Sporadic Congenital Diaphragmatic Hernia

Lan Yu, Julia Wynn, Yee Him Cheung, Yufeng Shen, George B. Mychaliska, Timothy M. Crombleholme, Kenneth S. Azarow, Foong Yen Lim, Dai H. Chung, Douglas Potoka, Brad W. Warner, Brian Bucher, Charles Stolar, Gudrun Aspelund, Marc S. Arkovitz, Wendy K. Chung

Hum Genet. Author manuscript; available in PMC 2014 Mar 1.

Published in final edited form as: Hum Genet. 2013 Mar; 132(3): 285–292. Published online 2012 Nov 9. doi: 10.1007/s00439-012-1249-0

PMCID:: PMC3570587

Abstract Article PDF–1.2M

Select item 328318310.

Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts

Danielle Veenma, Erwin Brosens, Elisabeth de Jong, Cees van de Ven, Connie Meeussen, Titia Cohen-Overbeek, Marjan Boter, Hubertus Eussen, Hannie Douben, Dick Tibboel, Annelies de Klein

Eur J Hum Genet. 2012 Mar; 20(3): 298–304. Published online 2011 Nov 9. doi: 10.1038/ejhg.2011.194

PMCID:: PMC3283183

Abstract Article PDF–405K

Select item 301552011.

Thoracoscopic Excision of a Paraesophageal Bronchogenic Cyst in a Child

Jason Knudtson, Harsh Grewal

JSLS. 2004 Apr-Jun; 8(2): 179–182.

PMCID:: PMC3015520

Abstract Article PDF–3.8M

Select item 289171612.

Infants With Bochdalek Diaphragmatic Hernia: Sibling Precurrence and Monozygotic Twin Discordance in a Hospital-Based Malformation Surveillance Program

Barbara R. Pober, Angela Lin, Meaghan Russell, Kate G. Ackerman, Sharmila Chakravorty, Bernarda Strauss, Marie Noel Westgate, Jay Wilson, Patricia K. Donahoe, Lewis B. Holmes

Am J Med Genet A. Author manuscript; available in PMC 2010 Jun 24.

Published in final edited form as: Am J Med Genet A. 2005 Oct 1; 138A(2): 81–88. doi: 10.1002/ajmg.a.30904

PMCID:: PMC2891716

Abstract Article PDF–494K

Select item 287278613.

Genetic aspects of human congenital diaphragmatic hernia

BR Pober

Clin Genet. Author manuscript; available in PMC 2010 May 19.

Published in final edited form as: Clin Genet. 2008 Jul; 74(1): 1–15. Published online 2008 May 28. doi: 10.1111/j.1399-0004.2008.01031.x

PMCID:: PMC2872786

Abstract Article PDF–114K

Select item 274917414.

Decreased surfactant phosphatidylcholine synthesis in neonates with congenital diaphragmatic hernia during extracorporeal membrane oxygenation

Daphne J. Janssen, Luc J. Zimmermann, Paola Cogo, Aaron Hamvas, Kajsa Bohlin, Ingrid H. Luijendijk, Darcos Wattimena, Virgilio P. Carnielli, Dick Tibboel

Intensive Care Med. 2009 Oct; 35(10): 1754–1760. Published online 2009 Jul 7. doi: 10.1007/s00134-009-1564-7

PMCID:: PMC2749174

Abstract Article PDF–246K

Select item 268949115.

Motor performance in five-year-old extracorporeal membrane oxygenation survivors: a population-based study

Maria WG Nijhuis-van der Sanden, Monique HM van der Cammen-van Zijp, Anjo JWM Janssen, Jolanda JCM Reuser, Petra Mazer, Arno FJ van Heijst, Saskia J Gischler, Dick Tibboel, Louis AA Kollée

Crit Care. 2009; 13(2): R47. Published online 2009 Apr 2. doi: 10.1186/cc7770

PMCID:: PMC2689491

Abstract Article PDF–250K

Select item 118352916.

Fog2 Is Required for Normal Diaphragm and Lung Development in Mice and Humans

Kate G Ackerman, Bruce J Herron, Sara O Vargas, Hailu Huang, Sergei G Tevosian, Lazaros Kochilas, Cherie Rao, Barbara R Pober, Randal P Babiuk, Jonathan A Epstein, John J Greer, David R Beier

PLoS Genet. 2005 Jul; 1(1): e10. Published online 2005 Jun 17. doi: 10.1371/journal.pgen.0010010

PMCID:: PMC1183529

Abstract Article PDF–361K

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