Epidermolytic palmoplantar keratoderma of Vörner: re-evaluation of Vörner's original family and identification of a novel keratin 9 mutationKÜSTER, Wolfgang; REIS, André; HENNIES, Hans Christian et al.Archives of dermatological research (Print). 2002, Vol 294, Num 6, pp 268-272, issn 0340-3696, 5 p.Article

Full-Thickness Human Skin Models for Congenital Ichthyosis and Related Keratinization DisordersECKL, Katja-Martina; ALEF, Thomas; TORRES, Serena et al.Journal of investigative dermatology. 2011, Vol 131, Num 9, pp 1938-1942, issn 0022-202X, 5 p.Article

Vestibular dysfunction of patients with mutations of Connexin 26TODT, Ingo; HENNIES, Hans Christian; BASTA, Dietmar et al.Neuroreport (Oxford). 2005, Vol 16, Num 11, pp 1179-1181, issn 0959-4965, 3 p.Article

Assignment of the gene for a new hereditary nail disorder, isolated congenital nail dysplasia, to chromosome 17p13KREBSOVA, Alice; HAMM, Henning; KARL, Susanne et al.Journal of investigative dermatology. 2000, Vol 115, Num 4, pp 664-667, issn 0022-202XArticle

Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-like syndromeHENNEKE, Marco; WEHNER, Lars-Erik; HENNIES, Hans Christian et al.American journal of medical genetics. 2004, Vol 128A, Num 2, pp 156-158, issn 0148-7299, 3 p.Article

Identification and localization of a new human myotubularin-related protein gene, MTMR8, on 8p22-p23APPEL, Silke; REICHWALD, Kathrin; ZIMMERMANN, Wolfgang et al.Genomics (San Diego, Calif.). 2001, Vol 75, Num 1-3, pp 6-8, issn 0888-7543Article

De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probesTÖNNIES, Holger; SCHULZE, Ilka; HENNIES, Hans-Christian et al.Journal of medical genetics. 2001, Vol 38, Num 9, pp 617-621, issn 0022-2593Article

Bathing suit ichthyosisTRINDADE, Felicidade; FIADEIRO, Teresa; TORRELO, Antonio et al.EJD. European journal of dermatology. 2010, Vol 20, Num 4, pp 447-450, issn 1167-1122, 4 p.Article

47 patients in 14 families with the rare genodermatosis keratosis punctata palmoplantaris Buschke-Fischer-BrauerEMMERT, Steffen; KÜSTER, Wolfgang; HENNIES, Hans-Christian et al.EJD. European journal of dermatology. 2003, Vol 13, Num 1, pp 16-20, issn 1167-1122, 5 p.Article

Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutationRAGHUNATH, Michael; HENNIES, Hans-Christian; AHVAZI, Bijan et al.Journal of investigative dermatology. 2003, Vol 120, Num 2, pp 224-228, issn 0022-202X, 5 p.Article

Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin ProcessingALEF, Thomas; TORRES, Serena; HAUSSER, Ingrid et al.Journal of investigative dermatology. 2009, Vol 129, Num 4, pp 862-869, issn 0022-202X, 8 p.Article

Hallmarks of Atopic Skin Mimicked In Vitro by Means of a Skin Disease Model Based on FLG Knock-downKÜCHLER, Sarah; HENKES, Dominika; ECKL, Katja-Martina et al.ATLA. Alternatives to laboratory animals. 2011, Vol 39, Num 5, pp 471-480, issn 0261-1929, 10 p.Article

GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal formJANECKE, Andreas R; HENNIES, Hans Christian; GÜNTHER, Barbara et al.American journal of medical genetics. 2005, Vol 133A, Num 2, pp 128-131, issn 0148-7299, 4 p.Article

Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15SASSE-KLAASSEN, Sabine; PROBST, Susanne; GERULL, Brenda et al.Circulation (New York, N.Y.). 2004, Vol 109, Num 22, pp 2720-2723, issn 0009-7322, 4 p.Article

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golginHENNIES, Hans Christian; KORNAK, Uwe; WILCOX, William R et al.Nature genetics. 2008, Vol 40, Num 12, pp 1410-1412, issn 1061-4036, 3 p.Article

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4SAYER, John A; OTTO, Edgar A; UTSCH, Boris et al.Nature genetics. 2006, Vol 38, Num 6, pp 674-681, issn 1061-4036, 8 p.Article

Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopeciaHILLMER, Axel M; HANNEKEN, Sandra; HEYN, Uwe et al.American journal of human genetics. 2005, Vol 77, Num 1, pp 140-148, issn 0002-9297, 9 p.Article

Genome-wide Scan and Fine-Mapping Linkage Study of Androgenetic Alopecia Reveals a Locus on Chromosome 3q26HILLMER, Axel M; FLAQUER, Antonia; REINARTZ, Roman et al.American journal of human genetics. 2008, Vol 82, Num 3, pp 737-743, issn 0002-9297, 7 p.Article

A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3LEAL, Alejandro; MORERA, Bernal; NEUNDÖRFER, Bernhard et al.American journal of human genetics. 2001, Vol 68, Num 1, pp 269-274, issn 0002-9297Conference Paper

A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal FunctionHUSSAIN, Muhammad Sajid; BAIG, Shahid Mahmood; FROMMOLT, Peter et al.American journal of human genetics. 2012, Vol 90, Num 5, pp 871-878, issn 0002-9297, 8 p.Article

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndromeHENNIES, Hans Christian; RAUCH, Anita; GIUGLIANI, Roberto et al.American journal of human genetics. 2004, Vol 75, Num 1, pp 138-145, issn 0002-9297, 8 p.Article

IGFBP7 as a Potential Therapeutic Target in PsoriasisNOUSBECK, Janna; ISHIDA-YAMAMOTO, A; MATZ, Hagit et al.Journal of investigative dermatology. 2011, Vol 131, Num 8, pp 1767-1770, issn 0022-202X, 4 p.Article

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11ZUR STADT, Udo; SCHMIDT, Susanne; HENNIES, Hans Christian et al.Human molecular genetics (Print). 2005, Vol 14, Num 6, pp 827-834, issn 0964-6906, 8 p.Article

Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab EmiratesECKL, Katja Martina; STEVENS, Howard P; REIS, André et al.Human genetics. 2003, Vol 112, Num 1, pp 50-56, issn 0340-6717, 7 p.Article