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Page 1
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: lampe ak. 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.
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations.
Jimenez-Mallebrera C, Maioli MA, Kim J, Brown SC, Feng L, Lampe AK, Bushby K, Hicks D, Flanigan KM, Bonnemann C, Sewry CA, Muntoni F. Jimenez-Mallebrera C, et al. Among authors: lampe ak. Neuromuscul Disord. 2006 Oct;16(9-10):571-82. doi: 10.1016/j.nmd.2006.07.015. Epub 2006 Aug 28. Neuromuscul Disord. 2006. PMID: 16935502
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.
Lower KM, Turner G, Kerr BA, Mathews KD, Shaw MA, Gedeon AK, Schelley S, Hoyme HE, White SM, Delatycki MB, Lampe AK, Clayton-Smith J, Stewart H, van Ravenswaay CM, de Vries BB, Cox B, Grompe M, Ross S, Thomas P, Mulley JC, Gécz J. Lower KM, et al. Among authors: lampe ak. Nat Genet. 2002 Dec;32(4):661-5. doi: 10.1038/ng1040. Epub 2002 Nov 4. Nat Genet. 2002. PMID: 12415272
A refined diagnostic algorithm for Bethlem myopathy.
Hicks D, Lampe AK, Barresi R, Charlton R, Fiorillo C, Bonnemann CG, Hudson J, Sutton R, Lochmüller H, Straub V, Bushby K. Hicks D, et al. Among authors: lampe ak. Neurology. 2008 Apr 1;70(14):1192-9. doi: 10.1212/01.wnl.0000307749.66438.6d. Neurology. 2008. PMID: 18378883 Clinical Trial.
A novel non-synonymous polymorphism (p.Arg240His) in C4b-binding protein is associated with atypical hemolytic uremic syndrome and leads to impaired alternative pathway cofactor activity.
Blom AM, Bergström F, Edey M, Diaz-Torres M, Kavanagh D, Lampe A, Goodship JA, Strain L, Moghal N, McHugh M, Inward C, Tomson C, Frémeaux-Bacchi V, Villoutreix BO, Goodship TH. Blom AM, et al. Among authors: lampe a. J Immunol. 2008 May 1;180(9):6385-91. doi: 10.4049/jimmunol.180.9.6385. J Immunol. 2008. PMID: 18424762
163 results