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Results: 1 to 20 of 98

1.

Comprehensive genetic variant discovery in the surfactant protein B gene.

Hamvas A, Wegner DJ, Carlson CS, Bergmann KR, Trusgnich MA, Fulton L, Kasai Y, An P, Mardis ER, Wilson RK, Cole FS.

Pediatr Res. 2007 Aug;62(2):170-5.

PMID:
17597650
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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

McBee AD, Wegner DJ, Carlson CS, Wambach JA, Yang P, Heins HB, Saugstad OD, Trusgnich MA, Watkins-Torry J, Nogee LM, Henderson H, Cole FS, Hamvas A.

Pediatr Pulmonol. 2008 May;43(5):443-50. doi: 10.1002/ppul.20782.

PMID:
18383112
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Surfactant protein B deficiency and gene mutations for neonatal respiratory distress syndrome in China Han ethnic population.

Yin X, Meng F, Wang Y, Xie L, Kong X, Feng Z.

Int J Clin Exp Pathol. 2013;6(2):267-72. Epub 2013 Jan 15.

PMID:
23330012
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Sequence variation and linkage disequilibrium in the GABA transporter-1 gene (SLC6A1) in five populations: implications for pharmacogenetic research.

Hirunsatit R, Ilomäki R, Malison R, Räsänen P, Ilomäki E, Kranzler HR, Kosten T, Sughondhabirom A, Thavichachart N, Tangwongchai S, Listman J, Mutirangura A, Gelernter J, Lappalainen J.

BMC Genet. 2007 Oct 17;8:71.

PMID:
17941974
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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

Wegner DJ, Hertzberg T, Heins HB, Elmberger G, MacCoss MJ, Carlson CS, Nogee LM, Cole FS, Hamvas A.

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

PMID:
17391469
[PubMed - indexed for MEDLINE]
6.

Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency.

Tredano M, Cooper DN, Stuhrmann M, Christodoulou J, Chuzhanova NA, Roudot-Thoraval F, Boëlle PY, Elion J, Jeanpierre M, Feingold J, Couderc R, Bahuau M.

Am J Med Genet A. 2006 Jan 1;140(1):62-9.

PMID:
16333843
[PubMed - indexed for MEDLINE]
7.

[Pulmonary surfactant associated gene variants in mixed ethnic population of Han and Zhuang].

Chen YJ, Chen SK, DePass K, Wegner DJ, Hamvas A, Nong GM, Wang YZ, Fan X, Luo JS.

Zhonghua Er Ke Za Zhi. 2012 Nov;50(11):843-6. Chinese.

PMID:
23302616
[PubMed - indexed for MEDLINE]
8.

Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: relationship to SFTPB.

Tredano M, Griese M, de Blic J, Lorant T, Houdayer C, Schumacher S, Cartault F, Capron F, Boccon-Gibod L, Lacaze-Masmonteil T, Renolleau S, Delaisi B, Elion J, Couderc R, Bahuau M.

Am J Med Genet A. 2003 Jun 15;119A(3):324-39.

PMID:
12784301
[PubMed - indexed for MEDLINE]
9.

Single nucleotide polymorphisms in bone turnover-related genes in Koreans: ethnic differences in linkage disequilibrium and haplotype.

Kim KS, Kim GS, Hwang JY, Lee HJ, Park MH, Kim KJ, Jung J, Cha HS, Shin HD, Kang JH, Park EK, Kim TH, Hong JM, Koh JM, Oh B, Kimm K, Kim SY, Lee JY.

BMC Med Genet. 2007 Nov 26;8:70.

PMID:
18036257
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Nucleotide diversity and haplotype structure of the human angiotensinogen gene in two populations.

Nakajima T, Jorde LB, Ishigami T, Umemura S, Emi M, Lalouel JM, Inoue I.

Am J Hum Genet. 2002 Jan;70(1):108-23. Epub 2001 Nov 30.

PMID:
11731937
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Identification and functional significance of SNPs underlying conserved haplotype frameworks across ethnic populations.

Ouyang C, Krontiris TG.

Pharmacogenet Genomics. 2006 Sep;16(9):667-82.

PMID:
16906021
[PubMed - indexed for MEDLINE]
12.

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.

PMID:
23166334
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Similarity in recombination rate and linkage disequilibrium at CYP2C and CYP2D cytochrome P450 gene regions among Europeans indicates signs of selection and no advantage of using tagSNPs in population isolates.

Pimenoff VN, Laval G, Comas D, Palo JU, Gut I, Cann H, Excoffier L, Sajantila A.

Pharmacogenet Genomics. 2012 Dec;22(12):846-57. doi: 10.1097/FPC.0b013e32835a3a6d.

PMID:
23089684
[PubMed - indexed for MEDLINE]
14.

Dinucleotide repeats in the human surfactant protein-B gene and respiratory-distress syndrome.

Floros J, Veletza SV, Kotikalapudi P, Krizkova L, Karinch AM, Friedman C, Buchter S, Marks K.

Biochem J. 1995 Jan 15;305 ( Pt 2):583-90.

PMID:
7832777
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Developmental and genetic regulation of human surfactant protein B in vivo.

Hamvas A, Heins HB, Guttentag SH, Wegner DJ, Trusgnich MA, Bennet KW, Yang P, Carlson CS, An P, Cole FS.

Neonatology. 2009;95(2):117-24. doi: 10.1159/000153095. Epub 2008 Sep 6.

PMID:
18776725
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Haplotype-based association studies of IGFBP1 and IGFBP3 with prostate and breast cancer risk: the multiethnic cohort.

Cheng I, Penney KL, Stram DO, Le Marchand L, Giorgi E, Haiman CA, Kolonel LN, Pike M, Hirschhorn J, Henderson BE, Freedman ML.

Cancer Epidemiol Biomarkers Prev. 2006 Oct;15(10):1993-7.

PMID:
17035411
[PubMed - indexed for MEDLINE]
Free Article
17.

Patterns of genetic variation in the hypertension candidate gene GRK4: ethnic variation and haplotype structure.

Lohmueller KE, Wong LJ, Mauney MM, Jiang L, Felder RA, Jose PA, Williams SM.

Ann Hum Genet. 2006 Jan;70(Pt 1):27-41.

PMID:
16441255
[PubMed - indexed for MEDLINE]
18.

Novel variants in the PRDX6 Gene and the risk of Acute Lung Injury following major trauma.

Rushefski M, Aplenc R, Meyer N, Li M, Feng R, Lanken PN, Gallop R, Bellamy S, Localio AR, Feinstein SI, Fisher AB, Albelda SM, Christie JD.

BMC Med Genet. 2011 May 31;12:77. doi: 10.1186/1471-2350-12-77.

PMID:
21627785
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Surfactant protein-C promoter variants associated with neonatal respiratory distress syndrome reduce transcription.

Wambach JA, Yang P, Wegner DJ, An P, Hackett BP, Cole FS, Hamvas A.

Pediatr Res. 2010 Sep;68(3):216-20. doi: 10.1203/00006450-201011001-00421.

PMID:
20539253
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

The influence of genetic variation in surfactant protein B on severe lung injury in African American children.

Dahmer MK, O'cain P, Patwari PP, Simpson P, Li SH, Halligan N, Quasney MW.

Crit Care Med. 2011 May;39(5):1138-44. doi: 10.1097/CCM.0b013e31820a9416.

PMID:
21283003
[PubMed - indexed for MEDLINE]

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