-
1
-
-
0036214069
-
Nationwide prevalence of sporadic and familial idiopathic pulmonary fibrosis: Evidence of founder effect among multiplex families in Finland
-
Hodgson U, Laitinen T, Tukiainen P. Nationwide prevalence of sporadic and familial idiopathic pulmonary fibrosis: Evidence of founder effect among multiplex families in Finland. Thorax 2002; 57: 338-342.
-
(2002)
Thorax
, vol.57
, pp. 338-342
-
-
Hodgson, U.1
Laitinen, T.2
Tukiainen, P.3
-
2
-
-
84922948913
-
Extensive phenotyping of individuals at-risk for familial interstitial pneumonia reveals clues to the pathogenesis of interstitial lung disease
-
Kropski JA, Pritchett JM, Zoz DF, et al. Extensive phenotyping of individuals at-risk for familial interstitial pneumonia reveals clues to the pathogenesis of interstitial lung disease. Am J Respir Crit Care Med 2014; 191: 417-426.
-
(2014)
Am J Respir Crit Care Med
, vol.191
, pp. 417-426
-
-
Kropski, J.A.1
Pritchett, J.M.2
Zoz, D.F.3
-
3
-
-
34250614359
-
Adult-onset pulmonary fibrosis caused by mutations in telomerase
-
Tsakiri KD, Cronkhite JT, Kuan PJ, et al. Adult-onset pulmonary fibrosis caused by mutations in telomerase. Proc Natl Acad Sci USA 2007; 104: 7552-7557.
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 7552-7557
-
-
Tsakiri, K.D.1
Cronkhite, J.T.2
Kuan, P.J.3
-
4
-
-
34047188508
-
Telomerase mutations in families with idiopathic pulmonary fibrosis
-
Armanios MY, Chen JJ, Cogan JD, et al. Telomerase mutations in families with idiopathic pulmonary fibrosis. N Engl J Med 2007; 356: 1317-1326.
-
(2007)
N Engl J Med
, vol.356
, pp. 1317-1326
-
-
Armanios, M.Y.1
Chen, J.J.2
Cogan, J.D.3
-
5
-
-
84881114723
-
The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European caucasian population
-
Borie R, Crestani B, Dieude P, et al. The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population. Plos One 2013; 8: E70621.
-
(2013)
Plos One
, vol.8
, pp. e70621
-
-
Borie, R.1
Crestani, B.2
Dieude, P.3
-
6
-
-
84874611617
-
Telomeres and age-related disease: How telomere biology informs clinical paradigms
-
Armanios M. Telomeres and age-related disease: how telomere biology informs clinical paradigms. J Clin Invest 2013; 123: 996-1002.
-
(2013)
J Clin Invest
, vol.123
, pp. 996-1002
-
-
Armanios, M.1
-
7
-
-
70949087815
-
A spectrum of severe familial liver disorders associate with telomerase mutations
-
Calado RT, Regal JA, Kleiner DE, et al. A spectrum of severe familial liver disorders associate with telomerase mutations. Plos One 2009; 4: E7926.
-
(2009)
Plos One
, vol.4
, pp. e7926
-
-
Calado, R.T.1
Regal, J.A.2
Kleiner, D.E.3
-
8
-
-
84937803170
-
Triallelic and epigenetic-like inheritance in human disorders of telomerase
-
Collopy LC, Walne AJ, Cardoso S, et al. Triallelic and epigenetic-like inheritance in human disorders of telomerase. Blood 2015; 126: 176-184.
-
(2015)
Blood
, vol.126
, pp. 176-184
-
-
Collopy, L.C.1
Walne, A.J.2
Cardoso, S.3
-
9
-
-
77956289135
-
Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations
-
Diaz de Leon A, Cronkhite JT, Katzenstein AL, et al. Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations. Plos One 2010; 5: E10680.
-
(2010)
Plos One
, vol.5
, pp. e10680
-
-
Diaz De Leon, A.1
Cronkhite, J.T.2
Katzenstein, A.L.3
-
10
-
-
84924569235
-
MUC5B promoter polymorphism in Japanese patients with idiopathic pulmonary fibrosis
-
Horimasu Y, Ohshimo S, Bonella F, et al. MUC5B promoter polymorphism in Japanese patients with idiopathic pulmonary fibrosis. Respirology 2015; 20: 439-444.
-
(2015)
Respirology
, vol.20
, pp. 439-444
-
-
Horimasu, Y.1
Ohshimo, S.2
Bonella, F.3
-
11
-
-
79955146233
-
A common MUC5B promoter polymorphism and pulmonary fibrosis
-
Seibold MA, Wise AL, Speer MC, et al. A common MUC5B promoter polymorphism and pulmonary fibrosis. N Engl J Med 2011; 364: 1503-1512.
-
(2011)
N Engl J Med
, vol.364
, pp. 1503-1512
-
-
Seibold, M.A.1
Wise, A.L.2
Speer, M.C.3
-
12
-
-
79952717349
-
An official ATS/ERS/JRS/ALAT statement: Idiopathic pulmonary fibrosis: Evidence-based guidelines for diagnosis and management
-
Raghu G, Collard HR, Egan JJ, et al. An official ATS/ERS/JRS/ALAT statement: idiopathic pulmonary fibrosis: Evidence-based guidelines for diagnosis and management. Am J Respir Crit Care Med 2011; 183: 788-824.
-
(2011)
Am J Respir Crit Care Med
, vol.183
, pp. 788-824
-
-
Raghu, G.1
Collard, H.R.2
Egan, J.J.3
-
13
-
-
84881669432
-
An official American thoracic society/European respiratory society statement: Update of the international multidisciplinary classification of the idiopathic interstitial pneumonias
-
Travis WD, Costabel U, Hansell DM, et al. An official American Thoracic Society/European Respiratory Society statement: Update of the international multidisciplinary classification of the idiopathic interstitial pneumonias. Am J Respir Crit Care Med 2013; 188: 733-748.
-
(2013)
Am J Respir Crit Care Med
, vol.188
, pp. 733-748
-
-
Travis, W.D.1
Costabel, U.2
Hansell, D.M.3
-
14
-
-
84901754507
-
Diagnosis and management of idiopathic pulmonary fibrosis: French practical guidelines
-
Cottin V, Crestani B, Valeyre D, et al. Diagnosis and management of idiopathic pulmonary fibrosis: French practical guidelines. Eur Respir Rev 2014; 23: 193-214.
-
(2014)
Eur Respir Rev
, vol.23
, pp. 193-214
-
-
Cottin, V.1
Crestani, B.2
Valeyre, D.3
-
15
-
-
78650639126
-
The genetics and clinical manifestations of telomere biology disorders
-
Savage SA, Bertuch AA. The genetics and clinical manifestations of telomere biology disorders. Genet Med 2010; 12: 753-764.
-
(2010)
Genet Med
, vol.12
, pp. 753-764
-
-
Savage, S.A.1
Bertuch, A.A.2
-
17
-
-
79952717349
-
An official ATS/ERS/JRS/ALAT statement: Idiopathic pulmonary fibrosis: Evidence-based guidelines for diagnosis and management
-
Raghu G, Collard HR, Egan JJ, et al. An official ATS/ERS/JRS/ALAT statement: idiopathic pulmonary fibrosis: Evidence-based guidelines for diagnosis and management. Am J Respir Crit Care Med 2011; 183: 788-824.
-
(2011)
Am J Respir Crit Care Med
, vol.183
, pp. 788-824
-
-
Raghu, G.1
Collard, H.R.2
Egan, J.J.3
-
18
-
-
84928209346
-
Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology
-
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17: 405-424.
-
(2015)
Genet Med
, vol.17
, pp. 405-424
-
-
Richards, S.1
Aziz, N.2
Bale, S.3
-
19
-
-
84892821784
-
Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)
-
Claustres M, Kozich V, Dequeker E, et al. Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic). Eur J Hum Genet 2014; 22: 160-170.
-
(2014)
Eur J Hum Genet
, vol.22
, pp. 160-170
-
-
Claustres, M.1
Kozich, V.2
Dequeker, E.3
-
21
-
-
84881169431
-
Pulmonary alveolar proteinosis revealing a telomerase disease
-
Marchand-Adam S, Diot B, Magro P, et al. Pulmonary alveolar proteinosis revealing a telomerase disease. Am J Respir Crit Care Med 2013; 188: 402-404.
-
(2013)
Am J Respir Crit Care Med
, vol.188
, pp. 402-404
-
-
Marchand-Adam, S.1
Diot, B.2
Magro, P.3
-
22
-
-
84896499887
-
Is telomeropathy the explanation for combined pulmonary fibrosis and emphysema syndrome?: Report of a family with TERT mutation
-
Nunes H, Monnet I, Kannengiesser C, et al. Is telomeropathy the explanation for combined pulmonary fibrosis and emphysema syndrome?: Report of a family with TERT mutation. Am J Respir Crit Care Med 2014; 189: 753-754.
-
(2014)
Am J Respir Crit Care Med
, vol.189
, pp. 753-754
-
-
Nunes, H.1
Monnet, I.2
Kannengiesser, C.3
-
23
-
-
84927955825
-
Severe hematologic complications after lung transplantation in patients with telomerase complex mutations
-
Borie R, Kannengiesser C, Hirschi S, et al. Severe hematologic complications after lung transplantation in patients with telomerase complex mutations. J Heart Lung Transplant 2015; 34: 538-546.
-
(2015)
J Heart Lung Transplant
, vol.34
, pp. 538-546
-
-
Borie, R.1
Kannengiesser, C.2
Hirschi, S.3
-
24
-
-
84896694734
-
Recommandations pratiques pour le diagnostic et la prise en charge de la fibrose pulmonaire idiopathique. Elaborees par le centre national de reference et les centres de competence pour les maladies pulmonaires rares sous l'egide de la societe de pneumologie de langue francaise
-
Cottin V, Crestani B, Valeyre D, et al. Recommandations pratiques pour le diagnostic et la prise en charge de la fibrose pulmonaire idiopathique. Elaborees par le centre national de reference et les centres de competence pour les maladies pulmonaires rares sous l'egide de la Societe de pneumologie de langue francaise. [French practical guidelines for the diagnosis and management of idiopathic pulmonary fibrosis. From the National Reference and the Competence centers for rare diseases and the Societe de Pneumologie de Langue Francaise.] Rev Mal Respir 2013; 30: 879-902.
-
(2013)
Rev Mal Respir
, vol.30
, pp. 879-902
-
-
Cottin, V.1
Crestani, B.2
Valeyre, D.3
-
25
-
-
80052666657
-
Subclinical lung disease, macrocytosis, and premature graying in kindreds with telomerase (TERT) mutations
-
Diaz de Leon A, Cronkhite JT, Yilmaz C, et al. Subclinical lung disease, macrocytosis, and premature graying in kindreds with telomerase (TERT) mutations. Chest 2011; 140: 753-763.
-
(2011)
Chest
, vol.140
, pp. 753-763
-
-
Diaz De Leon, A.1
Cronkhite, J.T.2
Yilmaz, C.3
-
26
-
-
0037157582
-
Association between aplastic anaemia and mutations in telomerase RNA
-
Vulliamy T, Marrone A, Dokal I, et al. Association between aplastic anaemia and mutations in telomerase RNA. Lancet 2002; 359: 2168-2170.
-
(2002)
Lancet
, vol.359
, pp. 2168-2170
-
-
Vulliamy, T.1
Marrone, A.2
Dokal, I.3
-
27
-
-
79957590947
-
Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase
-
Parry EM, Alder JK, Qi X, et al. Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase. Blood 2011; 117: 5607-5611.
-
(2011)
Blood
, vol.117
, pp. 5607-5611
-
-
Parry, E.M.1
Alder, J.K.2
Qi, X.3
-
28
-
-
84943381247
-
Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders
-
Gorgy AI, Jonassaint NL, Stanley SE, et al. Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders. Chest 2015; 148: 1019-1026.
-
(2015)
Chest
, vol.148
, pp. 1019-1026
-
-
Gorgy, A.I.1
Jonassaint, N.L.2
Stanley, S.E.3
-
29
-
-
84876472689
-
A familial history of pulmonary fibrosis in patients with chronic hypersensitivity pneumonitis
-
Okamoto T, Miyazaki Y, Tomita M, et al. A familial history of pulmonary fibrosis in patients with chronic hypersensitivity pneumonitis. Respiration 2013; 85: 384-390.
-
(2013)
Respiration
, vol.85
, pp. 384-390
-
-
Okamoto, T.1
Miyazaki, Y.2
Tomita, M.3
-
30
-
-
84929130078
-
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening
-
Stuart BD, Choi J, Zaidi S, et al. Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. Nat Genet 2015; 47: 512-517.
-
(2015)
Nat Genet
, vol.47
, pp. 512-517
-
-
Stuart, B.D.1
Choi, J.2
Zaidi, S.3
-
31
-
-
84938889019
-
Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis
-
Kannengiesser C, Borie R, Menard C, et al. Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis. Eur Respir J 2015; 46: 474-485.
-
(2015)
Eur Respir J
, vol.46
, pp. 474-485
-
-
Kannengiesser, C.1
Borie, R.2
Menard, C.3
-
32
-
-
79955119666
-
Constitutional telomerase mutations are genetic risk factors for cirrhosis
-
Calado RT, Brudno J, Mehta P, et al. Constitutional telomerase mutations are genetic risk factors for cirrhosis. Hepatology 2011; 53: 1600-1607.
-
(2011)
Hepatology
, vol.53
, pp. 1600-1607
-
-
Calado, R.T.1
Brudno, J.2
Mehta, P.3
-
33
-
-
84903834962
-
Lung transplantation in telomerase mutation carriers with pulmonary fibrosis
-
Silhan LL, Shah PD, Chambers DC, et al. Lung transplantation in telomerase mutation carriers with pulmonary fibrosis. Eur Respir J 2014; 44: 178-187.
-
(2014)
Eur Respir J
, vol.44
, pp. 178-187
-
-
Silhan, L.L.1
Shah, P.D.2
Chambers, D.C.3
-
34
-
-
84943365560
-
Clinical outcomes of lung transplant recipients with telomerase mutations
-
Tokman S, Singer JP, Devine MS, et al. Clinical outcomes of lung transplant recipients with telomerase mutations. J Heart Lung Transplant 2015; 34: 1318-1324.
-
(2015)
J Heart Lung Transplant
, vol.34
, pp. 1318-1324
-
-
Tokman, S.1
Singer, J.P.2
Devine, M.S.3
-
35
-
-
84903995680
-
Effect of telomere length on survival in patients with idiopathic pulmonary fibrosis: An observational cohort study with independent validation
-
Stuart BD, Lee JS, Kozlitina J, et al. Effect of telomere length on survival in patients with idiopathic pulmonary fibrosis: An observational cohort study with independent validation. Lancet Respir Med 2014; 2: 557-565.
-
(2014)
Lancet Respir Med
, vol.2
, pp. 557-565
-
-
Stuart, B.D.1
Lee, J.S.2
Kozlitina, J.3
-
36
-
-
79955753008
-
Natural history of pulmonary fibrosis in two subjects with the same telomerase mutation
-
El-Chemaly S, Ziegler SG, Calado RT, et al. Natural history of pulmonary fibrosis in two subjects with the same telomerase mutation. Chest 2011; 139: 1203-1209.
-
(2011)
Chest
, vol.139
, pp. 1203-1209
-
-
El-Chemaly, S.1
Ziegler, S.G.2
Calado, R.T.3
-
37
-
-
0037312730
-
Radiological versus histological diagnosis in UIP and NSIP: Survival implications
-
Flaherty KR, Thwaite EL, Kazerooni EA, et al. Radiological versus histological diagnosis in UIP and NSIP: survival implications. Thorax 2003; 58: 143-148.
-
(2003)
Thorax
, vol.58
, pp. 143-148
-
-
Flaherty, K.R.1
Thwaite, E.L.2
Kazerooni, E.A.3
-
38
-
-
84961291345
-
Telomerase mutations in smokers with severe emphysema
-
Stanley SE, Chen JJ, Podlevsky JD, et al. Telomerase mutations in smokers with severe emphysema. J Clin Invest 2015; 125: 563-570.
-
(2015)
J Clin Invest
, vol.125
, pp. 563-570
-
-
Stanley, S.E.1
Chen, J.J.2
Podlevsky, J.D.3
-
39
-
-
35648999925
-
Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations
-
Marrone A, Sokhal P, Walne A, et al. Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations. Haematologica 2007; 92: 1013-1020.
-
(2007)
Haematologica
, vol.92
, pp. 1013-1020
-
-
Marrone, A.1
Sokhal, P.2
Walne, A.3
-
40
-
-
84899476119
-
Guidelines for investigating causality of sequence variants in human disease
-
MacArthur DG, Manolio TA, Dimmock DP, et al. Guidelines for investigating causality of sequence variants in human disease. Nature 2014; 508: 469-476.
-
(2014)
Nature
, vol.508
, pp. 469-476
-
-
MacArthur, D.G.1
Manolio, T.A.2
Dimmock, D.P.3
-
41
-
-
84924787997
-
Rare variants in RTEL1 are associated with familial interstitial pneumonia
-
Cogan JD, Kropski JA, Zhao M, et al. Rare variants in RTEL1 are associated with familial interstitial pneumonia. Am J Respir Crit Care Med 2015; 191: 646-655.
-
(2015)
Am J Respir Crit Care Med
, vol.191
, pp. 646-655
-
-
Cogan, J.D.1
Kropski, J.A.2
Zhao, M.3
-
42
-
-
84929484543
-
Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis
-
Alder JK, Stanley SE, Wagner CL, et al. Exome Sequencing Identifies Mutant TINF2 in a Family With Pulmonary Fibrosis. Chest 2015; 147: 1361-1368.
-
(2015)
Chest
, vol.147
, pp. 1361-1368
-
-
Alder, J.K.1
Stanley, S.E.2
Wagner, C.L.3
-
43
-
-
84885426952
-
Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene
-
Alder JK, Parry EM, Yegnasubramanian S, et al. Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene. Hum Mutat 2013; 34: 1481-1485.
-
(2013)
Hum Mutat
, vol.34
, pp. 1481-1485
-
-
Alder, J.K.1
Parry, E.M.2
Yegnasubramanian, S.3
-
44
-
-
84930412885
-
The genetic basis of idiopathic pulmonary fibrosis
-
Kropski JA, Blackwell TS, Loyd JE. The genetic basis of idiopathic pulmonary fibrosis. Eur Respir J 2015; 45: 1717-1727.
-
(2015)
Eur Respir J
, vol.45
, pp. 1717-1727
-
-
Kropski, J.A.1
Blackwell, T.S.2
Loyd, J.E.3
|