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Items: 1 to 20 of 93

1.

Rapid and progressive pulmonary fibrosis in 2 families with DNA repair deficiencies of undetermined etiology.

Vece TJ, Schecter MG, Gatti RA, Tunuguntla R, Garcia CK, Langston C, Dishop MK, Moore RH, Fan LL.

J Pediatr. 2012 Apr;160(4):700-702.e3. doi: 10.1016/j.jpeds.2011.12.001. Epub 2012 Jan 10.

2.

[Neonatal respiratory failure associated with mutation in the surfactant protein C gene].

Alzina de Aguilar V, Gaboli M, Bastero MiƱon P, Romero Montero A, de Alava E.

An Pediatr (Barc). 2005 Mar;62(3):210-4. Spanish.

3.

Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations.

Diaz de Leon A, Cronkhite JT, Katzenstein AL, Godwin JD, Raghu G, Glazer CS, Rosenblatt RL, Girod CE, Garrity ER, Xing C, Garcia CK.

PLoS One. 2010 May 19;5(5):e10680. doi: 10.1371/journal.pone.0010680.

4.

Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease.

Tredano M, Griese M, Brasch F, Schumacher S, de Blic J, Marque S, Houdayer C, Elion J, Couderc R, Bahuau M.

Am J Med Genet A. 2004 Apr 1;126A(1):18-26.

PMID:
15039969
5.

Genetics in pulmonary fibrosis--familial cases provide clues to the pathogenesis of idiopathic pulmonary fibrosis.

Lawson WE, Loyd JE, Degryse AL.

Am J Med Sci. 2011 Jun;341(6):439-43. doi: 10.1097/MAJ.0b013e31821a9d7a.

6.

Telomerase mutations in families with idiopathic pulmonary fibrosis.

Armanios MY, Chen JJ, Cogan JD, Alder JK, Ingersoll RG, Markin C, Lawson WE, Xie M, Vulto I, Phillips JA 3rd, Lansdorp PM, Greider CW, Loyd JE.

N Engl J Med. 2007 Mar 29;356(13):1317-26.

7.

Ultrastructural characterization of genetic diffuse lung diseases in infants and children: a cohort study and review.

Citti A, Peca D, Petrini S, Cutrera R, Biban P, Haass C, Boldrini R, Danhaive O.

Ultrastruct Pathol. 2013 Oct;37(5):356-65. doi: 10.3109/01913123.2013.811454.

PMID:
24047351
8.

Primary immunodeficiency syndromes associated with defective DNA double-strand break repair.

Gennery AR.

Br Med Bull. 2006;77-78:71-85. Epub 2006 Sep 13. Review.

PMID:
16971555
9.

[Familial diffuse interstitial fibrosis of prolonged onset worsening during pregnancy].

Zanutto A, Chabot F, Martinet Y, Cannard L, Vignaud JM, Polu JM.

Rev Mal Respir. 2003 Sep;20(4):628-32. French.

PMID:
14528169
10.

Adult-onset pulmonary fibrosis caused by mutations in telomerase.

Tsakiri KD, Cronkhite JT, Kuan PJ, Xing C, Raghu G, Weissler JC, Rosenblatt RL, Shay JW, Garcia CK.

Proc Natl Acad Sci U S A. 2007 May 1;104(18):7552-7. Epub 2007 Apr 25.

11.

Short telomeres are a risk factor for idiopathic pulmonary fibrosis.

Alder JK, Chen JJ, Lancaster L, Danoff S, Su SC, Cogan JD, Vulto I, Xie M, Qi X, Tuder RM, Phillips JA 3rd, Lansdorp PM, Loyd JE, Armanios MY.

Proc Natl Acad Sci U S A. 2008 Sep 2;105(35):13051-6. doi: 10.1073/pnas.0804280105. Epub 2008 Aug 27.

12.

Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase.

Parry EM, Alder JK, Qi X, Chen JJ, Armanios M.

Blood. 2011 May 26;117(21):5607-11. doi: 10.1182/blood-2010-11-322149. Epub 2011 Mar 24. Erratum in: Blood. 2016 Apr 7;127(14):1837.

13.

A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant.

Campo I, Zorzetto M, Mariani F, Kadija Z, Morbini P, Dore R, Kaltenborn E, Frixel S, Zarbock R, Liebisch G, Hegermann J, Wrede C, Griese M, Luisetti M.

Respir Res. 2014 Apr 15;15:43. doi: 10.1186/1465-9921-15-43.

14.

Genetic studies provide clues on the pathogenesis of idiopathic pulmonary fibrosis.

Kropski JA, Lawson WE, Young LR, Blackwell TS.

Dis Model Mech. 2013 Jan;6(1):9-17. doi: 10.1242/dmm.010736. Review.

15.

Telomerase and idiopathic pulmonary fibrosis.

Armanios M.

Mutat Res. 2012 Feb 1;730(1-2):52-8. doi: 10.1016/j.mrfmmm.2011.10.013. Epub 2011 Nov 4. Review.

16.

Clinical radiation sensitivity with DNA repair disorders: an overview.

Pollard JM, Gatti RA.

Int J Radiat Oncol Biol Phys. 2009 Aug 1;74(5):1323-31. doi: 10.1016/j.ijrobp.2009.02.057. Review.

17.

Idiopathic pulmonary fibrosis: is it a familial disease?

Allam JS, Limper AH.

Curr Opin Pulm Med. 2006 Sep;12(5):312-7. Review.

PMID:
16926644
18.

Use of transgenic mouse models to understand the origins of familial pulmonary fibrosis.

Glasser SW, Senft AP.

Curr Pharm Biotechnol. 2011 Sep;12(9):1447-54. Review.

PMID:
21401520
19.

A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome.

Forsythe E, Wild R, Sellick G, Houlston RS, Lehmann AR, Wakeling E.

Am J Med Genet A. 2009 Oct;149A(10):2075-9. doi: 10.1002/ajmg.a.32995.

PMID:
19760648
20.

Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort.

van Moorsel CH, van Oosterhout MF, Barlo NP, de Jong PA, van der Vis JJ, Ruven HJ, van Es HW, van den Bosch JM, Grutters JC.

Am J Respir Crit Care Med. 2010 Dec 1;182(11):1419-25. doi: 10.1164/rccm.200906-0953OC. Epub 2010 Jul 23.

PMID:
20656946

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