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Items: 1 to 20 of 122

1.
2.

Haplotype analysis of ABCA3: association with respiratory distress in very premature infants.

Karjalainen MK, Haataja R, Hallman M.

Ann Med. 2008;40(1):56-65. doi: 10.1080/07853890701611094.

PMID:
18246475
3.

The Haplotype TGGAG in the ABCA3 Gene Increases the Risk of Respiratory Distress Syndrome in Preterm Infants in Southern China.

Tian W, Chen X, Qin H, Wei Q, Zhang S, Tang S, Liao L, Zhang Y, Chen Y.

Pediatr Neonatol. 2016 Jun;57(3):188-94. doi: 10.1016/j.pedneo.2015.09.002. Epub 2015 Oct 27.

4.

Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome.

Wambach JA, Wegner DJ, Heins HB, Druley TE, Mitra RD, Hamvas A, Cole FS.

J Pediatr. 2014 Jun;164(6):1316-21.e3. doi: 10.1016/j.jpeds.2014.02.021. Epub 2014 Mar 20.

5.

Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease.

Saugstad OD, Hansen TW, Rønnestad A, Nakstad B, Tølløfsrud PA, Reinholt F, Hamvas A, Coles FS, Dean M, Wert SE, Whitsett JA, Nogee LM.

Acta Paediatr. 2007 Feb;96(2):185-90.

PMID:
17429902
6.

Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.

Wambach JA, Wegner DJ, Depass K, Heins H, Druley TE, Mitra RD, An P, Zhang Q, Nogee LM, Cole FS, Hamvas A.

Pediatrics. 2012 Dec;130(6):e1575-82. doi: 10.1542/peds.2012-0918. Epub 2012 Nov 19.

7.

Novel ABCA3 mutations as a cause of respiratory distress in a term newborn.

Gonçalves JP, Pinheiro L, Costa M, Silva A, Gonçalves A, Pereira A.

Gene. 2014 Jan 25;534(2):417-20. doi: 10.1016/j.gene.2013.11.015. Epub 2013 Nov 20.

PMID:
24269975
8.

ABCA3 gene mutations in newborns with fatal surfactant deficiency.

Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA, Dean M.

N Engl J Med. 2004 Mar 25;350(13):1296-303.

9.

ATP-binding cassette member A3 (E292V) gene mutation and pulmonary morbidity in very-low-birth-weight infants.

Härtel C, Felderhoff-Müser U, Gebauer C, Hoehn T, Kribs A, Laux R, Möller J, Segerer H, Teig N, von der Wense A, Wieg C, Stichtenoth G, Herting E, Göpel W; German Neonatal Network (GNN)..

Acta Paediatr. 2012 Apr;101(4):380-3. doi: 10.1111/j.1651-2227.2011.02553.x. Epub 2012 Jan 9.

PMID:
22145626
10.

Association of polymorphisms in the human surfactant protein-D (SFTPD) gene and postnatal pulmonary adaptation in the preterm infant.

Hilgendorff A, Heidinger K, Bohnert A, Kleinsteiber A, König IR, Ziegler A, Lindner U, Frey G, Merz C, Lettgen B, Chakraborty T, Gortner L, Bein G.

Acta Paediatr. 2009 Jan;98(1):112-7. doi: 10.1111/j.1651-2227.2008.01014.x. Epub 2008 Sep 9.

PMID:
18785967
11.

[Relationship between pulmonary surfactant-associated protein B polymorphisms and the susceptibility to neonatal respiratory distress syndrome].

Lu WC, Xiang W, Wu M, Zheng X, Lin J, Chen XY, Wei HB, Zhan D, Li CL.

Zhongguo Dang Dai Er Ke Za Zhi. 2012 Jan;14(1):24-7. Chinese.

12.

Population and disease-based prevalence of the common mutations associated with surfactant deficiency.

Garmany TH, Wambach JA, Heins HB, Watkins-Torry JM, Wegner DJ, Bennet K, An P, Land G, Saugstad OD, Henderson H, Nogee LM, Cole FS, Hamvas A.

Pediatr Res. 2008 Jun;63(6):645-9. doi: 10.1203/PDR.0b013e31816fdbeb.

13.

Association between the surfactant protein A (SP-A) gene locus and respiratory-distress syndrome in the Finnish population.

Rämet M, Haataja R, Marttila R, Floros J, Hallman M.

Am J Hum Genet. 2000 May;66(5):1569-79. Epub 2000 Apr 4.

14.

Surfactant proteins A and B as interactive genetic determinants of neonatal respiratory distress syndrome.

Haataja R, Rämet M, Marttila R, Hallman M.

Hum Mol Genet. 2000 Nov 1;9(18):2751-60.

PMID:
11063734
15.

Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency.

Brasch F, Schimanski S, Mühlfeld C, Barlage S, Langmann T, Aslanidis C, Boettcher A, Dada A, Schroten H, Mildenberger E, Prueter E, Ballmann M, Ochs M, Johnen G, Griese M, Schmitz G.

Am J Respir Crit Care Med. 2006 Sep 1;174(5):571-80. Epub 2006 May 25.

PMID:
16728712
16.

Analysis of nitric oxide synthase gene polymorphisms in neonatal respiratory distress syndrome among the Chinese Han population.

Shen W, Du J, Wang B, Zeng Q.

Ital J Pediatr. 2014 Mar 6;40(1):27. doi: 10.1186/1824-7288-40-27.

17.

Endothelial NOS gene Glu298Asp polymorphism in preterm neonates with respiratory distress syndrome.

Demirçubuk AG, Coşkun MY, Demiryürek Ş, Dokuyucu R, Öztuzcu S, Taviloğlu ZŞ, Arslan A, Sivaslı E.

Pediatr Pulmonol. 2013 Oct;48(10):976-80. doi: 10.1002/ppul.22759. Epub 2013 Jan 28.

PMID:
23359565
18.

Family-based association tests suggest linkage between surfactant protein B (SP-B) (and flanking region) and respiratory distress syndrome (RDS): SP-B haplotypes and alleles from SP-B-linked loci are risk factors for RDS.

Floros J, Thomas NJ, Liu W, Papagaroufalis C, Xanthou M, Pereira S, Fan R, Guo X, Diangelo S, Pavlovic J.

Pediatr Res. 2006 Apr;59(4 Pt 1):616-21.

PMID:
16549540
19.

Ultrastructural and molecular analysis in fatal neonatal interstitial pneumonia caused by a novel ABCA3 mutation.

Bruder E, Hofmeister J, Aslanidis C, Hammer J, Bubendorf L, Schmitz G, Rufle A, Bührer C.

Mod Pathol. 2007 Oct;20(10):1009-18. Epub 2007 Jul 27.

20.

Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency.

Matsumura Y, Ban N, Ueda K, Inagaki N.

J Biol Chem. 2006 Nov 10;281(45):34503-14. Epub 2006 Sep 7.

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