Publications by authors named "Lawrence M Nogee"

68Publications

Genetic testing for rare pediatric lung disorders: The promise and the pitfalls.

Authors:
Lawrence M Nogee

Pediatr Investig 2020 Mar 17;4(1):59-60. Epub 2020 Mar 17.

Eudowood Division of Neonatology Department of Pediatrics Johns Hopkins University School of Medicine Baltimore Maryland USA.

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http://dx.doi.org/10.1002/ped4.12179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7331405PMC
March 2020

The past and future of genetics in pulmonary disease: You can teach an old dog new tricks.

Pediatr Pulmonol 2020 07;55(7):1789-1793

Department of Pediatrics, Division of Neonatology, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois.

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http://dx.doi.org/10.1002/ppul.24669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7295096PMC
July 2020

Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporter.

Cold Spring Harb Mol Case Stud 2020 06 12;6(3). Epub 2020 Jun 12.

Division of Pathology and Laboratory Medicine and The Perinatal Institute, Division of Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.

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http://dx.doi.org/10.1101/mcs.a005074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304364PMC
June 2020

The common K333Q polymorphism in long-chain acyl-CoA dehydrogenase (LCAD) reduces enzyme stability and function.

Mol Genet Metab 2020 May 1. Epub 2020 May 1.

Department of Pediatrics, Division of Medical Genetics, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA 15224, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2020.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7606262PMC
May 2020

Single-Center Outcome of Fetoscopic Tracheal Balloon Occlusion for Severe Congenital Diaphragmatic Hernia.

Obstet Gynecol 2020 03;135(3):511-521

Center for Fetal Therapy, Department of Gynecology & Obstetrics, the Department of Anesthesiology and Critical Care Medicine, the Division of Maternal-Fetal Medicine, Department of Gynecology & Obstetrics, the Division of Neonatology and the Pediatric Intensive Care Unit, Department of Pediatrics, and the Division of Pediatric Surgery, Department of Surgery, Johns Hopkins University School Medicine, Baltimore, Maryland.

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http://dx.doi.org/10.1097/AOG.0000000000003692DOI Listing
March 2020

A Step toward Treating a Lethal Neonatal Lung Disease. STAT3 and Alveolar Capillary Dysplasia.

Am J Respir Crit Care Med 2019 10;200(8):961-962

Department of PediatricsJohns Hopkins University School of MedicineBaltimore, Maryland.

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http://dx.doi.org/10.1164/rccm.201906-1102EDDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6794102PMC
October 2019

Genetic causes of surfactant protein abnormalities.

Authors:
Lawrence M Nogee

Curr Opin Pediatr 2019 06;31(3):330-339

Eudowood Neonatal Pulmonary Division, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1097/MOP.0000000000000751DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6530488PMC
June 2019

Ethical Considerations Concerning Amnioinfusions for Treating Fetal Bilateral Renal Agenesis.

Obstet Gynecol 2018 01;131(1):130-134

Berman Institute of Bioethics, the Department of Gynecology and Obstetrics, the Center for Fetal Therapy, the Department of Surgery, Pediatric Palliative Care, the Division of Pediatric Nephrology, the Division of Neonatology, and the Human Research Protection Program, Johns Hopkins School of Medicine and University, Baltimore, Maryland; U.S. House of Representatives, Southwest Washington 3rd District, Washington, DC; the Department of Pediatric Nephrology, Transplantation and Rheumatology, Children's Hospital of Richmond, the Department of Obstetrics and Gynecology, Virginia Commonwealth University, Richmond, Virginia; the Department of Obstetrics, Gynecology and Reproductive Services, University of California, San Francisco, San Francisco, California; the Department of Pediatrics-Nephrology, Max Rady College of Medicine, Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada; Francis King Carey School of Law, University of Maryland, Baltimore, Maryland; the Division of Nephrology, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, California; the University of Washington School of Law and Institute for Public Health Genetics, Seattle, Washington; the Division of Neonatal-Perinatal Medicine and Program for Biomedical Ethics, Yale University School of Medicine, New Haven, Connecticut; Cincinnati Fetal Center, TriHealth Good Samaritan Hospital, Cincinnati, Ohio; the Department of Obstetrics and Gynecology, Pennsylvania Hospital, Philadelphia, Pennsylvania; and the Division of Nephrology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.

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http://Insights.ovid.com/crossref?an=00006250-900000000-9821
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http://dx.doi.org/10.1097/AOG.0000000000002416DOI Listing
January 2018

Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B Deficiency.

J Pediatr 2017 11 6;190:268-270.e1. Epub 2017 Sep 6.

Eudowood Neonatal Pulmonary Division, Department of Pediatrics, Johns Hopkins University, Baltimore, MD.

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http://dx.doi.org/10.1016/j.jpeds.2017.07.009DOI Listing
November 2017

Interstitial lung disease in newborns.

Authors:
Lawrence M Nogee

Semin Fetal Neonatal Med 2017 08 28;22(4):227-233. Epub 2017 Mar 28.

Eudowood Neonatal Pulmonary Division, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.siny.2017.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537026PMC
August 2017

A novel surfactant protein C gene mutation associated with progressive respiratory failure in infancy.

Pediatr Pulmonol 2017 01 30;52(1):57-68. Epub 2016 Jun 30.

Division of Pulmonology, Allergy/Immunology, Cystic Fibrosis and Sleep (PACS), Department of Pediatrics, Children's Healthcare of Atlanta, Atlanta, Georgia, 30322.

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http://doi.wiley.com/10.1002/ppul.23493
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http://dx.doi.org/10.1002/ppul.23493DOI Listing
January 2017

Erratum to: A disorder of surfactant metabolism without identified genetic mutations.

Ital J Pediatr 2015 Dec 16;41:98. Epub 2015 Dec 16.

Department of Translational Medical Sciences, Federico II University, Via Sergio Pansini, Naples, 5 - 80131, Italy.

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http://dx.doi.org/10.1186/s13052-015-0205-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4682217PMC
December 2015

A disorder of surfactant metabolism without identified genetic mutations.

Ital J Pediatr 2015 Nov 25;41:93. Epub 2015 Nov 25.

Department of Translational Medical Sciences, Federico II University, Via Sergio Pansini, 5 - 80131, Naples, Italy.

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http://dx.doi.org/10.1186/s13052-015-0198-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4658764PMC
November 2015

Genotype-phenotype correlations for infants and children with ABCA3 deficiency.

Am J Respir Crit Care Med 2014 Jun;189(12):1538-43

1 Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.

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http://dx.doi.org/10.1164/rccm.201402-0342OCDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4226019PMC
June 2014

Natural history of five children with surfactant protein C mutations and interstitial lung disease.

Pediatr Pulmonol 2014 Nov 17;49(11):1097-105. Epub 2013 Dec 17.

Institute of Pulmonology, Hadassah University Hospital Ein-Kerem, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ppul.22971DOI Listing
November 2014

Large ABCA3 and SFTPC deletions resulting in lung disease.

Ann Am Thorac Soc 2013 Dec;10(6):602-7

1 McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.

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http://dx.doi.org/10.1513/AnnalsATS.201306-170OCDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960967PMC
December 2013

Candidate gene analysis of the surfactant protein D gene in pediatric diffuse lung disease.

J Pediatr 2013 Dec 9;163(6):1778-80. Epub 2013 Aug 9.

Section of Pediatric Pulmonology and Sleep Medicine, Department of Pediatrics, Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, NC. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2013.06.063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3846094PMC
December 2013

Variable clinical outcome of ABCA3 deficiency in two siblings.

Pediatr Pulmonol 2013 Oct 2;48(10):1035-8. Epub 2013 Jul 2.

Division of Respiratory Medicine, The Hospital for Sick Children, Pediatrics, Toronto, Ontario, Canada; University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1002/ppul.22698DOI Listing
October 2013

A mutation in TTF1/NKX2.1 is associated with familial neuroendocrine cell hyperplasia of infancy.

Chest 2013 Oct;144(4):1199-1206

Eudowood Neonatal Pulmonary Division, Department of Pediatrics, Johns Hopkins University, Baltimore, MD. Electronic address:

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http://dx.doi.org/10.1378/chest.13-0811DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3787915PMC
October 2013

Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.

Pediatrics 2012 Dec 19;130(6):e1575-82. Epub 2012 Nov 19.

Division of Newborn Medicine, The Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110.

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http://dx.doi.org/10.1542/peds.2012-0918DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3507255PMC
December 2012

Frontiers in pulmonary hypertension in infants and children with bronchopulmonary dysplasia.

Pediatr Pulmonol 2012 Nov 6;47(11):1042-53. Epub 2012 Jul 6.

Eudowood Division of Pediatric Respiratory Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287-2533, USA.

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http://dx.doi.org/10.1002/ppul.22609DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3963167PMC
November 2012

An intronic ABCA3 mutation that is responsible for respiratory disease.

Pediatr Res 2012 Jun 15;71(6):633-7. Epub 2012 Feb 15.

Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1038/pr.2012.21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3607324PMC
June 2012

Surfactant dysfunction.

Paediatr Respir Rev 2011 Dec 5;12(4):223-9. Epub 2011 Mar 5.

Eudowood Division of Pediatric Respiratory Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1016/j.prrv.2011.01.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3201772PMC
December 2011

Pulmonary nodules in a newborn with ATP-binding cassette transporter A3 (ABCA3) mutations.

Pediatrics 2011 May 4;127(5):e1347-51. Epub 2011 Apr 4.

Division of Pediatric Pulmonology, University of Utah School of Medicine, Primary Children's Medical Center, 100 N Mario Capecchi Dr, Salt Lake City, UT 84113-1100, USA.

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http://dx.doi.org/10.1542/peds.2010-1477DOI Listing
May 2011

Fatal familial lung disease caused by ABCA3 deficiency without identified ABCA3 mutations.

J Pediatr 2010 Jul 20;157(1):62-8. Epub 2010 Mar 20.

Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, MD 21287-2533, USA.

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http://dx.doi.org/10.1016/j.jpeds.2010.01.010DOI Listing
July 2010

Genetic Basis of Children's Interstitial Lung Disease.

Authors:
Lawrence M Nogee

Pediatr Allergy Immunol Pulmonol 2010 Mar;23(1):15-24

Department of Pediatrics, Division of Neonatology, Johns Hopkins University School of Medicine , Baltimore, Maryland.

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http://dx.doi.org/10.1089/ped.2009.0024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3207222PMC
March 2010

Genetic disorders of surfactant dysfunction.

Pediatr Dev Pathol 2009 Jul-Aug;12(4):253-74

Perinatal Institute, Section of Neonatology, Perinatal and Pulmonary Biology, Cincinnati Children's Hospital Medical Center, and the Department of Pediatrics, University of Cincinnati College of Medicine, 3333 Burnet Avenue, Cincinnati, OH 45229-3039, USA.

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http://dx.doi.org/10.2350/09-01-0586.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987676PMC
November 2009

Usual interstitial pneumonia in an adolescent with ABCA3 mutations.

Chest 2008 Jul;134(1):192-5

Division of Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, University of Cincinnati, 3333 Burnet Ave, MLC 2021, Cincinnati, OH 45229-3039, USA.

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http://dx.doi.org/10.1378/chest.07-2652DOI Listing
July 2008

Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene.

Pediatr Pulmonol 2008 May;43(5):443-50

Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1002/ppul.20782DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765708PMC
May 2008

ABCA3 deficiency presenting as persistent pulmonary hypertension of the newborn.

J Pediatr 2007 Sep;151(3):322-4

Pediatric Heart Lung Center, Department of Pediatrics, University of Colorado Health Sciences Center, Denver, CO, USA.

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http://dx.doi.org/10.1016/j.jpeds.2007.05.054DOI Listing
September 2007

Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation.

Pediatr Res 2007 Aug;62(2):176-9

Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.

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http://dx.doi.org/10.1203/PDR.0b013e3180a72588DOI Listing
August 2007

Genetic disorders of surfactant proteins.

Neonatology 2007 7;91(4):311-7. Epub 2007 Jun 7.

Edward Mallinckrodt Department of Pediatrics, Washington University and St. Louis Children's Hospital, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1159/000101347DOI Listing
September 2007

A major deletion in the surfactant protein-B gene causing lethal respiratory distress.

Acta Paediatr 2007 Apr;96(4):516-20

Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, MO 63110, USA.

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http://doi.wiley.com/10.1111/j.1651-2227.2006.00188.x
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http://dx.doi.org/10.1111/j.1651-2227.2006.00188.xDOI Listing
April 2007

Genetically engineered mice in understanding the basis of neonatal lung disease.

Semin Perinatol 2006 Dec;30(6):341-9

Division of Pulmonary Biology, Children's Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1053/j.semperi.2006.09.001DOI Listing
December 2006

ABCA3 deficiency: neonatal respiratory failure and interstitial lung disease.

Semin Perinatol 2006 Dec;30(6):327-34

Division of Neonatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S01460005050010
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http://dx.doi.org/10.1053/j.semperi.2005.12.001DOI Listing
December 2006

Defects in surfactant synthesis: clinical implications.

Pediatr Clin North Am 2006 Oct;53(5):911-27, ix

Division of Newborn Medicine in the Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, One Children's Place, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1016/j.pcl.2006.08.006DOI Listing
October 2006

Long-term outcomes after infant lung transplantation for surfactant protein B deficiency related to other causes of respiratory failure.

J Pediatr 2006 Oct;149(4):548-53

Edward Mallinckrodt Department of Pediatrics, Washington University, St Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1016/j.jpeds.2006.06.004DOI Listing
October 2006

Genetics of pediatric interstitial lung disease.

Authors:
Lawrence M Nogee

Curr Opin Pediatr 2006 Jun;18(3):287-92

Division of Neonatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.

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http://dx.doi.org/10.1097/01.mop.0000193310.22462.1fDOI Listing
June 2006

Surfactant composition and function in patients with ABCA3 mutations.

Pediatr Res 2006 Jun 26;59(6):801-5. Epub 2006 Apr 26.

Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri, 63110, USA.

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http://dx.doi.org/10.1203/01.pdr.0000219311.14291.dfDOI Listing
June 2006

ABCA3 mutations associated with pediatric interstitial lung disease.

Am J Respir Crit Care Med 2005 Oct 23;172(8):1026-31. Epub 2005 Jun 23.

Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1164/rccm.200503-504OCDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1403838PMC
October 2005

A common mutation in the surfactant protein C gene associated with lung disease.

J Pediatr 2005 Mar;146(3):370-5

Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S002234760400966
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http://dx.doi.org/10.1016/j.jpeds.2004.10.028DOI Listing
March 2005

Genetic mechanisms of surfactant deficiency.

Authors:
Lawrence M Nogee

Biol Neonate 2004 8;85(4):314-8. Epub 2004 Jun 8.

Department of Pediatrics, Division of Neonatology, Johns Hopkins University School of Medicine, Baltimore, MD 21287-3200, USA.

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http://dx.doi.org/10.1159/000078171DOI Listing
December 2004

Informed consent for genetic research.

Arch Pediatr Adolesc Med 2004 Jun;158(6):551-5

Edward Mallinckrodt Department of Pediatrics, Division of Newborn Medicine, Washington University School of Medicine and St Louis Children's Hospital, St Louis, MO 63110, USA.

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http://dx.doi.org/10.1001/archpedi.158.6.551DOI Listing
June 2004

ABCA3 gene mutations in newborns with fatal surfactant deficiency.

N Engl J Med 2004 Mar;350(13):1296-303

Human Genetics Section, Laboratory of Genomic Diversity, National Cancer Institute - Frederick, Frederick, Md, USA.

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http://www.uphs.upenn.edu/ifem/ins/feinstein-ABCA3.pdf
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http://www.nejm.org/doi/abs/10.1056/NEJMoa032178
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http://dx.doi.org/10.1056/NEJMoa032178DOI Listing
March 2004

Alterations in SP-B and SP-C expression in neonatal lung disease.

Authors:
Lawrence M Nogee

Annu Rev Physiol 2004 ;66:601-23

Division of Neonatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287-3200, USA.

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http://dx.doi.org/10.1146/annurev.physiol.66.032102.134711DOI Listing
May 2004

Progressive lung disease and surfactant dysfunction with a deletion in surfactant protein C gene.

Am J Respir Cell Mol Biol 2004 Jun 4;30(6):771-6. Epub 2003 Dec 4.

Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, 1 Children's Place, St. Louis, MO 63110, USA.

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http://www.uphs.upenn.edu/ifem/ins/yu-progressive%20lung%20d
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http://www.atsjournals.org/doi/abs/10.1165/rcmb.2003-0323OC
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http://dx.doi.org/10.1165/rcmb.2003-0323OCDOI Listing
June 2004

Expression of a human surfactant protein C mutation associated with interstitial lung disease disrupts lung development in transgenic mice.

J Biol Chem 2003 Dec 2;278(52):52739-46. Epub 2003 Oct 2.

Division of Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.

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http://dx.doi.org/10.1074/jbc.M309599200DOI Listing
December 2003

Abnormal expression of surfactant protein C and lung disease.

Authors:
Lawrence M Nogee

Am J Respir Cell Mol Biol 2002 Jun;26(6):641-4

Division of Neonatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287-3200, USA.

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http://dx.doi.org/10.1165/ajrcmb.26.6.f241DOI Listing
June 2002

Mutations in the surfactant protein C gene associated with interstitial lung disease.

Chest 2002 Mar;121(3 Suppl):20S-21S

Division of Neonatology, John Hopkins University Hospital, Johns Hopkins University, Baltimore, MD 21287, USA.

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http://dx.doi.org/10.1378/chest.121.3_suppl.20sDOI Listing
March 2002