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Mutations in KCTD1 cause scalp-ear-nipple syndrome.
Marneros AG, Beck AE, Turner EH, McMillin MJ, Edwards MJ, Field M, de Macena Sobreira NL, Perez AB, Fortes JA, Lampe AK, Giovannucci Uzielli ML, Gordon CT, Plessis G, Le Merrer M, Amiel J, Reichenberger E, Shively KM, Cerrato F, Labow BI, Tabor HK, Smith JD, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics. Marneros AG, et al. Among authors: reichenberger e. Am J Hum Genet. 2013 Apr 4;92(4):621-6. doi: 10.1016/j.ajhg.2013.03.002. Epub 2013 Mar 28. Am J Hum Genet. 2013. PMID: 23541344 Free PMC article.
Clinical genetics of familial keloids.
Marneros AG, Norris JE, Olsen BR, Reichenberger E. Marneros AG, et al. Among authors: reichenberger e. Arch Dermatol. 2001 Nov;137(11):1429-34. doi: 10.1001/archderm.137.11.1429. Arch Dermatol. 2001. PMID: 11708945
Identification of ASAH1 as a susceptibility gene for familial keloids.
Santos-Cortez RLP, Hu Y, Sun F, Benahmed-Miniuk F, Tao J, Kanaujiya JK, Ademola S, Fadiora S, Odesina V, Nickerson DA, Bamshad MJ, Olaitan PB, Oluwatosin OM, Leal SM, Reichenberger EJ. Santos-Cortez RLP, et al. Eur J Hum Genet. 2017 Oct;25(10):1155-1161. doi: 10.1038/ejhg.2017.121. Epub 2017 Jul 26. Eur J Hum Genet. 2017. PMID: 28905881 Free PMC article.
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK.
Reichenberger E, Tiziani V, Watanabe S, Park L, Ueki Y, Santanna C, Baur ST, Shiang R, Grange DK, Beighton P, Gardner J, Hamersma H, Sellars S, Ramesar R, Lidral AC, Sommer A, Raposo do Amaral CM, Gorlin RJ, Mulliken JB, Olsen BR. Reichenberger E, et al. Am J Hum Genet. 2001 Jun;68(6):1321-6. doi: 10.1086/320612. Epub 2001 Apr 16. Am J Hum Genet. 2001. PMID: 11326338 Free PMC article.
The gene for cherubism maps to chromosome 4p16.
Tiziani V, Reichenberger E, Buzzo CL, Niazi S, Fukai N, Stiller M, Peters H, Salzano FM, Raposo do Amaral CM, Olsen BR. Tiziani V, et al. Among authors: reichenberger e. Am J Hum Genet. 1999 Jul;65(1):158-66. doi: 10.1086/302456. Am J Hum Genet. 1999. PMID: 10364528 Free PMC article.
Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.
Ueki Y, Tiziani V, Santanna C, Fukai N, Maulik C, Garfinkle J, Ninomiya C, doAmaral C, Peters H, Habal M, Rhee-Morris L, Doss JB, Kreiborg S, Olsen BR, Reichenberger E. Ueki Y, et al. Among authors: reichenberger e. Nat Genet. 2001 Jun;28(2):125-6. doi: 10.1038/88832. Nat Genet. 2001. PMID: 11381256
85 results