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Page 1
Early primary cytomegalovirus infection in pregnancy: maternal hyperimmunoglobulin therapy improves outcomes among infants at 1 year of age.
Visentin S, Manara R, Milanese L, Da Roit A, Forner G, Salviato E, Citton V, Magno FM, Orzan E, Morando C, Cusinato R, Mengoli C, Palu G, Ermani M, Rinaldi R, Cosmi E, Gussetti N. Visentin S, et al. Among authors: orzan e. Clin Infect Dis. 2012 Aug;55(4):497-503. doi: 10.1093/cid/cis423. Epub 2012 Apr 26. Clin Infect Dis. 2012. PMID: 22539662
GRM7 variants confer susceptibility to age-related hearing impairment.
Friedman RA, Van Laer L, Huentelman MJ, Sheth SS, Van Eyken E, Corneveaux JJ, Tembe WD, Halperin RF, Thorburn AQ, Thys S, Bonneux S, Fransen E, Huyghe J, Pyykkö I, Cremers CW, Kremer H, Dhooge I, Stephens D, Orzan E, Pfister M, Bille M, Parving A, Sorri M, Van de Heyning PH, Makmura L, Ohmen JD, Linthicum FH Jr, Fayad JN, Pearson JV, Craig DW, Stephan DA, Van Camp G. Friedman RA, et al. Among authors: orzan e. Hum Mol Genet. 2009 Feb 15;18(4):785-96. doi: 10.1093/hmg/ddn402. Epub 2008 Dec 1. Hum Mol Genet. 2009. PMID: 19047183 Free PMC article.
The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment.
Van Laer L, Van Eyken E, Fransen E, Huyghe JR, Topsakal V, Hendrickx JJ, Hannula S, Mäki-Torkko E, Jensen M, Demeester K, Baur M, Bonaconsa A, Mazzoli M, Espeso A, Verbruggen K, Huyghe J, Huygen P, Kunst S, Manninen M, Konings A, Diaz-Lacava AN, Steffens M, Wienker TF, Pyykkö I, Cremers CW, Kremer H, Dhooge I, Stephens D, Orzan E, Pfister M, Bille M, Parving A, Sorri M, Van de Heyning PH, Van Camp G. Van Laer L, et al. Among authors: orzan e. Hum Mol Genet. 2008 Jan 15;17(2):159-69. doi: 10.1093/hmg/ddm292. Epub 2007 Oct 6. Hum Mol Genet. 2008. PMID: 17921507
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.
Hilgert N, Huentelman MJ, Thorburn AQ, Fransen E, Dieltjens N, Mueller-Malesinska M, Pollak A, Skorka A, Waligora J, Ploski R, Castorina P, Primignani P, Ambrosetti U, Murgia A, Orzan E, Pandya A, Arnos K, Norris V, Seeman P, Janousek P, Feldmann D, Marlin S, Denoyelle F, Nishimura CJ, Janecke A, Nekahm-Heis D, Martini A, Mennucci E, Tóth T, Sziklai I, Del Castillo I, Moreno F, Petersen MB, Iliadou V, Tekin M, Incesulu A, Nowakowska E, Bal J, Van de Heyning P, Roux AF, Blanchet C, Goizet C, Lancelot G, Fialho G, Caria H, Liu XZ, Xiaomei O, Govaerts P, Grønskov K, Hostmark K, Frei K, Dhooge I, Vlaeminck S, Kunstmann E, Van Laer L, Smith RJ, Van Camp G. Hilgert N, et al. Among authors: orzan e. Eur J Hum Genet. 2009 Apr;17(4):517-24. doi: 10.1038/ejhg.2008.201. Epub 2008 Nov 5. Eur J Hum Genet. 2009. PMID: 18985073 Free PMC article.
Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait.
Huyghe JR, Van Laer L, Hendrickx JJ, Fransen E, Demeester K, Topsakal V, Kunst S, Manninen M, Jensen M, Bonaconsa A, Mazzoli M, Baur M, Hannula S, Mäki-Torkko E, Espeso A, Van Eyken E, Flaquer A, Becker C, Stephens D, Sorri M, Orzan E, Bille M, Parving A, Pyykkö I, Cremers CW, Kremer H, Van de Heyning PH, Wienker TF, Nürnberg P, Pfister M, Van Camp G. Huyghe JR, et al. Among authors: orzan e. Am J Hum Genet. 2008 Sep;83(3):401-7. doi: 10.1016/j.ajhg.2008.08.002. Epub 2008 Aug 28. Am J Hum Genet. 2008. PMID: 18760390 Free PMC article.
Cx26 deafness: mutation analysis and clinical variability.
Murgia A, Orzan E, Polli R, Martella M, Vinanzi C, Leonardi E, Arslan E, Zacchello F. Murgia A, et al. Among authors: orzan e. J Med Genet. 1999 Nov;36(11):829-32. J Med Genet. 1999. PMID: 10544226 Free PMC article.
87 results