Publications by authors named "Melanie Refke"

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Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.
Sandra M Pasternack, Melanie Refke, Elham Paknia, Hans Christian Hennies, Thomas Franz

Am J Hum Genet· January 2013

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Follow-up study of the first genome-wide association scan in alopecia areata: IL13 and KIAA0350 as susceptibility loci supported with genome-wide significance.
Dagny Jagielska, Silke Redler, Felix F Brockschmidt, Christine Herold, Sandra M Pasternack, Melanie Refke

J Invest Dermatol· September 2012

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Selected variants of the steroid-5-alpha-reductase isoforms SRD5A1 and SRD5A2 and the sex steroid hormone receptors ESR1, ESR2 and PGR: no association with female pattern hair loss identified.
Silke Redler, Rachid Tazi-Ahnini, Dmitriy Drichel, Mary P Birch, Felix F Brockschmidt, Melanie Refke

Exp Dermatol· May 2012

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Tyrosinemia type II (Richner-Hanhart syndrome): a new mutation in the TAT gene.
Vida Culic, Regina C Betz, Melanie Refke, Ksenija Fumic, Jasminka Pavelic

Eur J Med Genet· September 2011

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Marie Unna hereditary hypotrichosis: identification of a U2HR mutation in the family from the original 1925 report.
Silke Redler, Roland Kruse, Sibylle Eigelshoven, Sandra Hanneken, Melanie Refke

J Am Acad Dermatol· April 2011

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Efficacy of ablative laser treatment in Galli-Galli disease.
Harald Voth, Jennifer Landsberg, Guenter Reinhard, Melanie Refke, Regina C Betz

Arch Dermatol· March 2011

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