scholarly journals First heterozygous NOP10 mutation in familial pulmonary fibrosis

2020 ◽  
Vol 55 (6) ◽  
pp. 1902465
Author(s):  
Caroline Kannengiesser ◽  
Effrosyni D. Manali ◽  
Patrick Revy ◽  
Isabelle Callebaut ◽  
Ibrahima Ba ◽  
...  
Keyword(s):  
Pulmonary Fibrosis ◽  
Familial Pulmonary Fibrosis

Rapidly Progressive Familial Pulmonary Fibrosis In 4 Children With An Unknown DNA Repair Defect

2010 ◽  
Author(s):  
Timothy J. Vece ◽  
Marc G. Schecter ◽  
Claire Langston ◽  
Christine K. Garcia ◽  
Megan K. Dishop ◽  
...  
Keyword(s):  
Dna Repair ◽  
Pulmonary Fibrosis ◽  
Repair Defect ◽  
Familial Pulmonary Fibrosis

scholarly journals Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred

2011 ◽  
Vol 38 (4) ◽  
pp. 861-869 ◽  
Author(s):  
S. Ono ◽  
T. Tanaka ◽  
M. Ishida ◽  
A. Kinoshita ◽  
J. Fukuoka ◽  
...  
Keyword(s):  
Pulmonary Fibrosis ◽  
Protein C ◽  
Surfactant Protein ◽  
Surfactant Protein C ◽  
Familial Pulmonary Fibrosis

scholarly journals Familial Pulmonary Fibrosis and Hermansky-Pudlak Syndrome Rare Missense Mutations in Context

2019 ◽  
Vol 200 (2) ◽  
pp. 253-256 ◽  
Author(s):  
Robert S. Stearman ◽  
Amber R. Cornelius ◽  
Lisa R. Young ◽  
David S. Conklin ◽  
Elizabeth A. Mickler ◽  
...  
Keyword(s):  
Pulmonary Fibrosis ◽  
Missense Mutations ◽  
Hermansky Pudlak Syndrome ◽  
Familial Pulmonary Fibrosis

scholarly journals Familial pulmonary fibrosis: Clinical and radiological characteristics and progression analysis in different high resolution-CT patterns

2017 ◽  
Vol 126 ◽  
pp. 75-83 ◽  
Author(s):  
David Bennett ◽  
Maria Antonietta Mazzei ◽  
Nevada Cioffi Squitieri ◽  
Elena Bargagli ◽  
Rosa Metella Refini ◽  
...  
Keyword(s):  
High Resolution ◽  
Pulmonary Fibrosis ◽  
High Resolution Ct ◽  
Familial Pulmonary Fibrosis

Lung Transplantation for Familial Pulmonary Fibrosis

2019 ◽  
Vol 38 (4) ◽  
pp. S325-S326
Author(s):  
S.M. Lari ◽  
D.J. Ross ◽  
R. Saggar ◽  
J.P Lynch ◽  
D. Sayah ◽  
...  
Keyword(s):  
Pulmonary Fibrosis ◽  
Lung Transplantation ◽  
Familial Pulmonary Fibrosis

scholarly journals Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening

2015 ◽  
Vol 47 (5) ◽  
pp. 512-517 ◽  
Author(s):  
Bridget D Stuart ◽  
Jungmin Choi ◽  
Samir Zaidi ◽  
Chao Xing ◽  
Brody Holohan ◽  
...  
Keyword(s):  
Pulmonary Fibrosis ◽  
Exome Sequencing ◽  
Telomere Shortening ◽  
Familial Pulmonary Fibrosis
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