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Publications - Dermatogenetics Group

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Alnasif, N., Zoschke, C., Fleige, E., Brodwolf, R., Boreham, A., Rühl, E., Eckl, K.M., Merk, H.F., Hennies, H.C., Alexiev, U., Haag, R., Küchler, S., and Schäfer-Korting, M. (2014). Penetration of normal, damaged and diseased skin--an in vitro study on dendritic core-multishell nanotransporters. J Control Release 185, 45-50.

Cunha, D.L., Eckl, K.M., Rauch, M., Casper, R., Gupta, M., Nurnberg, P., Schmuth, M., Zschocke, J., Saric, T., and Hennies, H.C. (2014). Generation and characterization of induced Pluripotent Stem (iPS) cells from Autosomal Recessive Congenital Ichthyosis patients - a new model system to study rare keratinization disorders. J Invest Dermatol 134, S34-S34.

Eckl, K.M., Weindl, G., Ackermann, K., Küchler, S., Casper, R., Radowski, M.R., Haag, R., Hennies, H.C., and Schäfer-Korting, M. (2014). Increased cutaneous absorption reflects impaired barrier function of reconstructed skin models mimicking keratinisation disorders. Exp Dermatol 23, 286-288.

Egbert, M.R., Fischer, J., Schlipf, N.A., Hennies, H.C., Hausser-Siller, I., Traupe, H., and Oji, V. (2014). Vitamin D status in different forms of ichthyosis in Germany: differences depending on the severity of hyperkeratosis and/or erythema and high prevalence of 25OHD deficiency and hyperparathyreoidism. J Dtsch Dermatol Ges 12 2, 4-5.

Gruber, R., Bornchen, C., Rose, K., Peters, E.M., Daubmann, A., Danso, M., Bouwstra, J.A., Hennies, H.C., Schmuth, M., and Brandner, J.M. (2014). Central role of Claudin-1 in lesional but not in non-lesional atopic dermatitis. J Invest Dermatol 134 2, S44-S44.

Schiller, S., Seebode, C., Hennies, H.C., Giehl, K., and Emmert, S. (2014). Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease. J Dtsch Dermatol Ges 12, 781-788.



Eckl, K.M., Tidhar, R., Thiele, H., Oji, V., Hausser, I., Brodesser, S., Preil, M., Onal-Akan, A., Stock, F., Altmuller, J., Nurnberg, P., Traupe, H., Futerman, A.H., and Hennies, H.C. (2013). Mutations in CERS3 lead to autosomal recessive ichthyosis and demonstrate the importance of ceramides in healthy and ichthyotic skin. Journal of Investigative Dermatology 133, S138-S138.

Eckl, K.M., Tidhar, R., Thiele, H., Oji, V., Hausser, I., Brodesser, S., Preil, M.L., Onal-Akan, A., Stock, F., Muller, D., Becker, K., Casper, R., Nurnberg, G., Altmuller, J., Nurnberg, P., Traupe, H., Futerman, A.H., and Hennies, H.C. (2013). Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive Congenital Ichthyosis and Reveals the Importance of Ceramide Acyl Chain Length. Journal of Investigative Dermatology 133, 2202-2211.

Hartz, T., Hennies, H., Oji, V., Schmidtmann, I., Kiekbusch, K., Kleinow, B., Aufenvenne, K., Uckert, F., and Traupe, H. (2013). The prevalence of autosomal recessive congenital ichthyosis and of transglutaminase-1 deficiency in Germany: Calculation of estimates using the three-source capture-recapture method. Journal of Investigative Dermatology 133, S91-S91.

Hennies, H.C., Onal-Akan, A., Lechner, S., Preil, M., Hamm, H., Kelsell, D.P., and Emmert, S. (2013). Mutations in AAGAB demonstrate genetic and allelic heterogeneity of punctate palmoplantar keratoderma but do not explain phenotype variability. Journal of Investigative Dermatology 133, S137-S137.

Nellen, R.G.L., Steijlen, P.M., Hennies, H.C., Fischer, J., Munro, C.S., Jonkman, M.F., van Steensel, M.A.M., and van Geel, M. (2013). Haplotype analysis in western European patients with mal de Meleda: founder effect for the W15R mutation in the SLURP1 gene. British Journal of Dermatology 168, 1372-1374.

Pasternack, S.M., Refke, M., Paknia, E., Hennies, H.C., Franz, T., Schafer, N., Fryer, A., van Steensel, M., Sweeney, E., Just, M., Grimm, C., Kruse, R., Ferrandiz, C., Nothen, M.M., Fischer, U., and Betz, R.C. (2013). Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal dominant hypotrichosis simplex. Journal of Investigative Dermatology 133, 1415-1415.

Pasternack, S.M., Refke, M., Paknia, E., Hennies, H.C., Franz, T., Schafer, N., Fryer, A., van Steensel, M., Sweeney, E., Just, M., Grimm, C., Kruse, R., Ferrandiz, C., Nothen, M.M., Fischer, U., and Betz, R.C. (2013). Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex. American journal of human genetics 92, 81-87.

Shao, K.F., Koch, C., Gupta, M.K., Lin, Q., Lenz, M., Laufs, S., Denecke, B., Schmidt, M., Linke, M., Hennies, H.C., Hescheler, J., Zenke, M., Zechner, U., Saric, T., and Wagner, W. (2013). Induced Pluripotent Mesenchymal Stromal Cell Clones Retain Donor-derived Differences in DNA Methylation Profiles. Mol Ther 21, 240-250.

Tjandra, E., Hausser, I., Eckl, K., Hennies, H.C., and Oji, V. (2013). Palmoplantar Keratoderma and Ichthyosis: Confirmation of Mutation in POMP in CLICK-Syndrome. J Dtsch Dermatol Ges 11, 1121-1121.



Aufenvenne,K., Rice,R.H., Hausser,I., Oji,V., Hennies,H.C., Rio,M.D., Traupe,H., and Larcher,F. (2012). Long-term faithful recapitulation of transglutaminase 1-deficient lamellar ichthyosis in a skin-humanized mouse model, and insights from proteomic studies. J Invest Dermatol. 132, 1918-1921.

Blaydon,D.C., Etheridge,S.L., Risk,J.M., Hennies,H.C., Gay,L.J., Carroll,R., Plagnol,V., McRonald,F.E., Stevens,H.P., Spurr,N.K., Bishop,D.T., Ellis,A., Jankowski,J., Field,J.K., Leigh,I.M., South,A.P., and Kelsell,D.P. (2012). RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. Am J Hum Genet. 90, 340-346.

Forstbauer,L.M., Brockschmidt,F.F., Moskvina,V., Herold,C., Redler,S., Herzog,A., Hillmer,A.M., Meesters,C., Heilmann,S., Albert,F., Alblas,M., Hanneken,S., Eigelshoven,S., Giehl,K.A., Jagielska,D., Blume-Peytavi,U., Garcia Bartels,N., Kuhn,J., Hennies,H.C., Goebeler,M., Jung,A., Peitsch,W.K., Kortüm,A.K., Moll,I., Kruse,R., Lutz,G., Wolff,H., Blaumeiser,B., Böhm,M., Kirov,G., Becker,T., Nöthen,M.M., and Betz,R.C. (2012). Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata. Eur J Hum Genet. 20, 326-332.

Hussain,M.S., Baig,S.M., Neumann,S., Nürnberg,G., Farooq,M., Ahmad,I., Alef,T., Hennies,H.C., Technau,M., Altmüller,J., Frommolt,P., Thiele,H., Noegel,A.A., and Nürnberg,P. (2012). A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. Am J Hum Genet. 90, 871-878.

Jansen,P.A., van den Bogaard,E.H., Kersten,F.F., Oostendorp,C., van Vlijmen-Willems,I.M., Oji,V., Traupe,H., Hennies,H.C., Schalkwijk,J., and Zeeuwen,P.L. (2012). Cystatin M/E knockdown by lentiviral delivery of shRNA impairs epidermal morphogenesis of human skin equivalents. Exp Dermatol. 21, 889-891.



Arweiler-Harbeck,D., Horsthemke,B., Jahnke,K., and Hennies,H.C. (2011). Genetic Aspects of Familial Meniere's Disease. Otology & Neurotology 32, 695-700.

Blaydon,D.C., Nitoiu,D., Eckl,K.M., Cabral,R.M., Bland,P., Hausser,I., van Heel,D.A., Rajpopat,S., Fischer,J., Oji,V., Zvulunov,A., Traupe,H., Hennies,H.C., and Kelsell,D.P. (2011). Mutations in CSTA, Encoding Cystatin A, Underlie Exfoliative Ichthyosis and Reveal a Role for This Protease Inhibitor in Cell-Cell Adhesion. American Journal of Human Genetics 89, 564-571.

Dolmans,G.H., Werker,P.M., Hennies,H.C., Furniss,D., Festen,E.A., Franke,L., Becker,K., van der Vlies,P., Wolffenbuttel,B.H., Tinschert,S., Toliat,M.R., Nothnagel,M., Franke,A., Klopp,N., Wichmann,H.E., Nurnberg,P., Giele,H., Ophoff,R.A., and Wijmenga,C. (2011). Wnt Signaling and Dupuytren's Disease. New England Journal of Medicine 365, 307-317.

Eckl,K.M., Alef,T., Torres,S., and Hennies,H.C. (2011). Full-Thickness Human Skin Models for Congenital Ichthyosis and Related Keratinization Disorders. Journal of Investigative Dermatology 131, 1938-1942.

Fatima,A., Xu,G.X., Shao,K.F., Papadopoulos,S., Lehmann,M., rnaiz-Cot,J.J., Rosa,A.O., Nguemo,F., Matzkies,M., Dittmann,S., Stone,S.L., Linke,M., Zechner,U., Beyer,V., Hennies,H.C., Rosenkranz,S., Klauke,B., Parwani,A.S., Haverkamp,W., Pfitzer,G., Farr,M., Cleemann,L., Morad,M., Milting,H., Hescheler,J., and Saric,T. (2011). In vitro Modeling of Ryanodine Receptor 2 Dysfunction Using Human Induced Pluripotent Stem Cells. Cellular Physiology and Biochemistry 28, 579-592.

Fuchs-Telem,D., Stewart,H., Rapaport,D., Nousbeck,J., Gat,A., Gini,M., Lugassy,Y., Emmert,S., Eckl,K., Hennies,H.C., Sarig,O., Goldsher,D., Meilik,B., Ishida-Yamamoto,A., Horowitz,M., and Sprecher,E. (2011). CEDNIK syndrome results from loss-of-function mutations in SNAP29. British Journal of Dermatology 164, 610-616.

Furniss,D., Dolmans,G.H.C.G., and Hennies,H.C. (2011). Genome-Wide Association Scan of Dupuytren's Disease. Journal of Hand Surgery-American Volume 36A, 755-756.

Gruber,R., Hennies,H.C., Romani,N., and Schmuth,M. (2011). A Novel Homozygous Missense Mutation in SLURP1 Causing Mal de Meleda With an Atypical Phenotype. Archives of Dermatology 147, 748-750.

Kuchler,S., Henkes,D., Eckl,K.M., Ackermann,K., Plendl,J., Korting,H.C., Hennies,H.C., and Schafer-Korting,M. (2011). Hallmarks of Atopic Skin Mimicked In Vitro by Means of a Skin Disease Model Based on FLG Knock-down. Atla-Alternatives to Laboratory Animals 39, 471-480.

Nousbeck,J., Ishida-Yamamoto,A., Bidder,M., Fuchs,D., Eckl,K., Hennies,H.C., Sagiv,N., Gat,A., Gini,M., Filip,I., Matz,H., Goldberg,I., Enk,C.D., Sarig,O., Meilik,B., Aberdam,D., Gilhar,A., and Sprecher,E. (2011). IGFBP7 as a Potential Therapeutic Target in Psoriasis. Journal of Investigative Dermatology 131, 1767-1770.

Seifert,W., Kuhnisch,J., Maritzen,T., Horn,D., Haucke,V., and Hennies,H.C. (2011). Cohen Syndrome-associated Protein, COH1, Is a Novel, Giant Golgi Matrix Protein Required for Golgi Integrity. Journal of Biological Chemistry 286, 37665-37675.



Oji,V., Eckl,K.M., Aufenvenne,K., Natebus,M., Tarinski,T., Ackermann,K., Seller,N., Metze,D., Nurnberg,G., Folster-Holst,R., Schafer-Korting,M., Hausser,I., Traupe,H., and Hennies,H.C. (2010). Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. Am J Hum Genet. 87, 274-281.

Oji,V., Tadini,G., Akiyama,M., Blanchet,B.C., Bodemer,C., Bourrat,E., Coudiere,P., DiGiovanna,J.J., Elias,P., Fischer,J., Fleckman,P., Gina,M., Harper,J., Hashimoto,T., Hausser,I., Hennies,H.C., Hohl,D., Hovnanian,A., Ishida-Yamamoto,A., Jacyk,W.K., Leachman,S., Leigh,I., Mazereeuw-Hautier,J., Milstone,L., Morice-Picard,F., Paller,A.S., Richard,G., Schmuth,M., Shimizu,H., Sprecher,E., Van,S.M., Taieb,A., Toro,J.R., Vabres,P., Vahlquist,A., Williams,M., and Traupe,H. (2010). Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009. J Am Acad. Dermatol. 63, 607-641.

Trindade,F., Fiadeiro,T., Torrelo,A., Hennies,H.C., Hausser,I., and Traupe,H. (2010). Bathing suit ichthyosis. Eur J Dermatol. 20, 447-450.



Alef,T., Torres,S., Hausser,I., Metze,D., Tursen,U., Lestringant,G.G., and Hennies,H.C. (2009). Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing. J Invest Dermatol. 129, 862-869.

Aufenvenne,K., Oji,V., Walker,T., Becker-Pauly,C., Hennies,H.C., Stocker,W., and Traupe,H. (2009). Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions. J Invest Dermatol. 129, 2068-2071.

Basel-Vanagaite,L., Sarig,O., Hershkovitz,D., Fuchs-Telem,D., Rapaport,D., Gat,A., Isman,G., Shirazi,I., Shohat,M., Enk,C.D., Birk,E., Kohlhase,J., Matysiak-Scholze,U., Maya,I., Knopf,C., Peffekoven,A., Hennies,H.C., Bergman,R., Horowitz,M., Ishida-Yamamoto,A., and Sprecher,E. (2009). RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. Am J Hum Genet. 85, 254-263.

Eckl,K.M., de,J.S., Kurtenbach,J., Natebus,M., Lugassy,J., Oji,V., Traupe,H., Preil,M.L., Martinez,F., Smolle,J., Harel,A., Krieg,P., Sprecher,E., and Hennies,H.C. (2009). Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. J Invest Dermatol. 129, 1421-1428.

Seifert,W., Holder-Espinasse,M., Kuhnisch,J., Kahrizi,K., Tzschach,A., Garshasbi,M., Najmabadi,H., Walter,K.A., Kress,W., Laureys,G., Loeys,B., Brilstra,E., Mancini,G.M., Dollfus,H., Dahan,K., Apse,K., Hennies,H.C., and Horn,D. (2009). Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. Hum Mutat. 30, E404-E420.

zur Stadt,U., Rohr,J., Seifert,W., Koch,F., Grieve,S., Pagel,J., Strauss,J., Kasper,B., Nurnberg,G., Becker,C., Maul-Pavicic,A., Beutel,K., Janka,G., Griffiths,G., Ehl,S., and Hennies,H.C. (2009). Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. Am J Hum Genet. 85, 482-492.



Haenssle,H.A., Finkenrath,A., Hausser,I., Oji,V., Traupe,H., Hennies,H.C., Neumann,C., and Emmert,S. (2008). Effective treatment of severe thermodysregulation by oral retinoids in a patient with recessive congenital lamellar ichthyosis. Clin Exp Dermatol. 33, 578-581.

Hennies,H.C., Kornak,U., Zhang,H., Egerer,J., Zhang,X., Seifert,W., Kuhnisch,J., Budde,B., Natebus,M., Brancati,F., Wilcox,W.R., Muller,D., Kaplan,P.B., Rajab,A., Zampino,G., Fodale,V., Dallapiccola,B., Newman,W., Metcalfe,K., Clayton-Smith,J., Tassabehji,M., Steinmann,B., Barr,F.A., Nurnberg,P., Wieacker,P., and Mundlos,S. (2008). Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet. 40, 1410-1412.

Hillmer,A.M., Flaquer,A., Hanneken,S., Eigelshoven,S., Kortum,A.K., Brockschmidt,F.F., Golla,A., Metzen,C., Thiele,H., Kolberg,S., Reinartz,R., Betz,R.C., Ruzicka,T., Hennies,H.C., Kruse,R., and Nothen,M.M. (2008). Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26. Am J Hum Genet. 82, 737-743.

Lugassy,J., Hennies,H.C., Indelman,M., Khamaysi,Z., Bergman,R., and Sprecher,E. (2008). Rapid detection of homozygous mutations in congenital recessive ichthyosis. Arch Dermatol Res. 300, 81-85.

Stuhrmann,M., Hennies,H.C., Bukhari,I.A., Brakensiek,K., Nurnberg,G., Becker,C., Huebener,J., Miranda,M.C., Frye-Boukhriss,H., Knothe,S., Schmidtke,J., and El-Harith,E.H. (2008). Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23. Clin Genet. 73, 566-572.



Furstenberger,G., Epp,N., Eckl,K.M., Hennies,H.C., Jorgensen,C., Hallenborg,P., Kristiansen,K., and Krieg,P. (2007). Role of epidermis-type lipoxygenases for skin barrier function and adipocyte differentiation. Prostaglandins Other Lipid Mediat. 82, 128-134.

Kalay,E., Uzumcu,A., Krieger,E., Caylan,R., Uyguner,O., Ulubil-Emiroglu,M., Erdol,H., Kayserili,H., Hafiz,G., Baserer,N., Heister,A.J., Hennies,H.C., Nurnberg,P., Basaran,S., Brunner,H.G., Cremers,C.W., Karaguzel,A., Wollnik,B., and Kremer,H. (2007). MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. Am J Med Genet A. 143A, 2382-2389.

Uyguner,O., Kayserili,H., Li,Y., Karaman,B., Nurnberg,G., Hennies,H., Becker,C., Nurnberg,P., Basaran,S., Apak,M.Y., and Wollnik,B. (2007). A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3. Clin Genet. 71, 212-219.

Vago,B., Hausser,I., Hennies,H.C., Enk,A., and Jappe,U. (2007). Hyalinosis cutis et mucosae. J Dtsch. Dermatol Ges. 5, 401-405.



Cichon,S., Martin,L., Hennies,H.C., Muller,F., Van,D.K., Karpushova,A., Stevens,W., Colombo,R., Renne,T., Drouet,C., Bork,K., and Nothen,M.M. (2006). Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. Am J Hum Genet. 79, 1098-1104.

Ellinor,P.T., Sasse-Klaassen,S., Probst,S., Gerull,B., Shin,J.T., Toeppel,A., Heuser,A., Michely,B., Yoerger,D.M., Song,B.S., Pilz,B., Krings,G., Coplin,B., Lange,P.E., Dec,G.W., Hennies,H.C., Thierfelder,L., and MacRae,C.A. (2006). A novel locus for dilated cardiomyopathy, diffuse myocardial fibrosis, and sudden death on chromosome 10q25-26. J Am Coll. Cardiol. 48, 106-111.

Gedicke,M.M., Traupe,H., Fischer,B., Tinschert,S., and Hennies,H.C. (2006). Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature. Br J Dermatol. 154, 167-171.

Hinkes,B., Wiggins,R.C., Gbadegesin,R., Vlangos,C.N., Seelow,D., Nurnberg,G., Garg,P., Verma,R., Chaib,H., Hoskins,B.E., Ashraf,S., Becker,C., Hennies,H.C., Goyal,M., Wharram,B.L., Schachter,A.D., Mudumana,S., Drummond,I., Kerjaschki,D., Waldherr,R., Dietrich,A., Ozaltin,F., Bakkaloglu,A., Cleper,R., Basel-Vanagaite,L., Pohl,M., Griebel,M., Tsygin,A.N., Soylu,A., Muller,D., Sorli,C.S., Bunney,T.D., Katan,M., Liu,J., Attanasio,M., O'toole,J.F., Hasselbacher,K., Mucha,B., Otto,E.A., Airik,R., Kispert,A., Kelley,G.G., Smrcka,A.V., Gudermann,T., Holzman,L.B., Nurnberg,P., and Hildebrandt,F. (2006). Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet. 38, 1397-1405.

Lugassy,J., Itin,P., Ishida-Yamamoto,A., Holland,K., Huson,S., Geiger,D., Hennies,H.C., Indelman,M., Bercovich,D., Uitto,J., Bergman,R., McGrath,J.A., Richard,G., and Sprecher,E. (2006). Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. Am J Hum Genet. 79, 724-730.

Mizrachi-Koren,M., Shemer,S., Morgan,M., Indelman,M., Khamaysi,Z., Petronius,D., Bitterman-Deutsch,O., Hennies,H.C., Bergman,R., and Sprecher,E. (2006). Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations. J Am Acad. Dermatol. 55, 393-401.

Oji,V., Hautier,J.M., Ahvazi,B., Hausser,I., Aufenvenne,K., Walker,T., Seller,N., Steijlen,P.M., Kuster,W., Hovnanian,A., Hennies,H.C., and Traupe,H. (2006). Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. Hum Mol Genet. 15, 3083-3097.

Sayer,J.A., Otto,E.A., O'toole,J.F., Nurnberg,G., Kennedy,M.A., Becker,C., Hennies,H.C., Helou,J., Attanasio,M., Fausett,B.V., Utsch,B., Khanna,H., Liu,Y., Drummond,I., Kawakami,I., Kusakabe,T., Tsuda,M., Ma,L., Lee,H., Larson,R.G., Allen,S.J., Wilkinson,C.J., Nigg,E.A., Shou,C., Lillo,C., Williams,D.S., Hoppe,B., Kemper,M.J., Neuhaus,T., Parisi,M.A., Glass,I.A., Petry,M., Kispert,A., Gloy,J., Ganner,A., Walz,G., Zhu,X., Goldman,D., Nurnberg,P., Swaroop,A., Leroux,M.R., and Hildebrandt,F. (2006). The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet. 38, 674-681.

Seifert,W., Holder-Espinasse,M., Spranger,S., Hoeltzenbein,M., Rossier,E., Dollfus,H., Lacombe,D., Verloes,A., Chrzanowska,K.H., Maegawa,G.H., Chitayat,D., Kotzot,D., Huhle,D., Meinecke,P., Albrecht,B., Mathijssen,I., Leheup,B., Raile,K., Hennies,H.C., and Horn,D. (2006). Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. J Med Genet. 43, e22.

Todt,I., Hennies,H.C., Kuster,W., Smolle,J., Rademacher,G., Mutze,S., Basta,D., Eisenschenk,A., and Ernst,A. (2006). Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome. Audiol. Neurootol. 11, 242-248.

Utsch,B., Sayer,J.A., Attanasio,M., Pereira,R.R., Eccles,M., Hennies,H.C., Otto,E.A., and Hildebrandt,F. (2006). Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. Pediatr. Nephrol. 21, 32-35.

Vanita,V., Hennies,H.C., Singh,D., Nurnberg,P., Sperling,K., and Singh,J.R. (2006). A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin. Mol Vis. 12, 1217-1222.

Vanita,V., Singh,J.R., Hejtmancik,J.F., Nuernberg,P., Hennies,H.C., Singh,D., and Sperling,K. (2006). A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family. Mol Vis. 12, 518-522.

Vanita,V., Hejtmancik,J.F., Hennies,H.C., Guleria,K., Nurnberg,P., Singh,D., Sperling,K., and Singh,J.R. (2006). Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin. Mol Vis. 12, 93-99.

Wolf,M.T., Mucha,B.E., Hennies,H.C., Attanasio,M., Panther,F., Zalewski,I., Karle,S.M., Otto,E.A., Deltas,C.C., Fuchshuber,A., and Hildebrandt,F. (2006). Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing. Hum Genet. 119, 649-658.

zur Stadt,U., Beutel,K., Kolberg,S., Schneppenheim,R., Kabisch,H., Janka,G., and Hennies,H.C. (2006). Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. Hum Mutat. 27, 62-68.



Binder,B., Hennies,H.C., Kraschl,R., and Smolle,J. (2005). [Connexin 26 mutation and keratitis-ichthyosis-deafness (KID) syndrome]. J Dtsch. Dermatol Ges. 3, 105-108.

Eckl,K.M., Krieg,P., Kuster,W., Traupe,H., Andre,F., Wittstruck,N., Furstenberger,G., and Hennies,H.C. (2005). Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. Hum Mutat. 26, 351-361.

Hillmer,A.M., Hanneken,S., Ritzmann,S., Becker,T., Freudenberg,J., Brockschmidt,F.F., Flaquer,A., Freudenberg-Hua,Y., Jamra,R.A., Metzen,C., Heyn,U., Schweiger,N., Betz,R.C., Blaumeiser,B., Hampe,J., Schreiber,S., Schulze,T.G., Hennies,H.C., Schumacher,J., Propping,P., Ruzicka,T., Cichon,S., Wienker,T.F., Kruse,R., and Nothen,M.M. (2005). Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia. Am J Hum Genet. 77, 140-148.

Janecke,A.R., Hennies,H.C., Gunther,B., Gansl,G., Smolle,J., Messmer,E.M., Utermann,G., and Rittinger,O. (2005). GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. Am J Med Genet A. 133A, 128-131.

Kolde,G., Hennies,H.C., Bethke,G., and Reichart,P.A. (2005). Focal palmoplantar and gingival keratosis: a distinct palmoplantar ectodermal dysplasia with epidermolytic alterations but lack of mutations in known keratins. J Am Acad. Dermatol. 52, 403-409.

Pichler,R., Stelzer,C., Berg,J., Holzinger,C., Eckl,K.M., Hennies,H.C., and Aubock,J. (2005). Hypoplastic thyroid, growth hormone deficiency, corneal opacities, cataract and hyperkeratotic skin disease: a possible new ichthyosis syndrome associated with endocrinopathies. Arch Dermatol Res. 296, 585-587.

Todt,I., Hennies,H.C., Basta,D., and Ernst,A. (2005). Vestibular dysfunction of patients with mutations of Connexin 26. Neuroreport. 16, 1179-1181.

Tukel,T., Uzumcu,A., Gezer,A., Kayserili,H., Yuksel-Apak,M., Uyguner,O., Gultekin,S.H., Hennies,H.C., Nurnberg,P., Desnick,R.J., and Wollnik,B. (2005). A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter. J Med Genet. 42, 408-415.

Wolf,M.T., Zalewski,I., Martin,F.C., Ruf,R., Muller,D., Hennies,H.C., Schwarz,S., Panther,F., Attanasio,M., Acosta,H.G., Imm,A., Lucke,B., Utsch,B., Otto,E., Nurnberg,P., Nieto,V.G., and Hildebrandt,F. (2005). Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkage. Nephrol. Dial. Transplant. 20, 909-914.

zur Stadt,U., Schmidt,S., Kasper,B., Beutel,K., Diler,A.S., Henter,J.I., Kabisch,H., Schneppenheim,R., Nurnberg,P., Janka,G., and Hennies,H.C. (2005). Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum Mol Genet. 14, 827-834.



Henneke,M., Wehner,L.E., Hennies,H.C., Preuss,N., and Gartner,J. (2004). Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-like syndrome. Am J Med Genet A. 128A, 156-158.

Hennies,H.C., Rauch,A., Seifert,W., Schumi,C., Moser,E., Al-Taji,E., Tariverdian,G., Chrzanowska,K.H., Krajewska-Walasek,M., Rajab,A., Giugliani,R., Neumann,T.E., Eckl,K.M., Karbasiyan,M., Reis,A., and Horn,D. (2004). Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. Am J Hum Genet. 75, 138-145.

Sasse-Klaassen,S., Probst,S., Gerull,B., Oechslin,E., Nurnberg,P., Heuser,A., Jenni,R., Hennies,H.C., and Thierfelder,L. (2004). Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15. Circulation. 109, 2720-2723.

Thiele,H., McCann,C., van't,P.S., Schwabe,G.C., Hennies,H.C., Camera,G., Opitz,J., Laxova,R., Mundlos,S., and Nurnberg,P. (2004). Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36. J Med Genet. 41, 213-218.

Wolf,M.T., van,V.B., Hennies,H.C., Zalewski,I., Karle,S.M., Puetz,M., Panther,F., Otto,E., Fuchshuber,A., Lameire,N., Loeys,B., and Hildebrandt,F. (2004). Telomeric refinement of the MCKD1 locus on chromosome 1q21. Kidney Int. 66, 580-585.



Eckl,K.M., Stevens,H.P., Lestringant,G.G., Westenberger-Treumann,M., Traupe,H., Hinz,B., Frossard,P.M., Stadler,R., Leigh,I.M., Nurnberg,P., Reis,A., and Hennies,H.C. (2003). Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates. Hum Genet. 112, 50-56.

Emmert,S., Kuster,W., Hennies,H.C., Zutt,M., Haenssle,H., Kretschmer,L., and Neumann,C. (2003). 47 patients in 14 families with the rare genodermatosis keratosis punctata palmoplantaris Buschke-Fischer-Brauer. Eur J Dermatol. 13, 16-20.

Pilger,U., Hennies,H.C., Truschnegg,A., and Aberer,E. (2003). Late-onset Papillon-Lefevre syndrome without alteration of the cathepsin C gene. J Am Acad. Dermatol. 49, S240-S243.

Raghunath,M., Hennies,H.C., Ahvazi,B., Vogel,M., Reis,A., Steinert,P.M., and Traupe,H. (2003). Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. J Invest Dermatol. 120, 224-228.

Ruf,R.G., Berkman,J., Wolf,M.T., Nurnberg,P., Gattas,M., Ruf,E.M., Hyland,V., Kromberg,J., Glass,I., Macmillan,J., Otto,E., Nurnberg,G., Lucke,B., Hennies,H.C., and Hildebrandt,F. (2003). A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3. J Med Genet. 40, 515-519.

Ruf,R.G., Wolf,M.T., Hennies,H.C., Lucke,B., Zinn,C., Varnholt,V., Lichtenberger,A., Pasch,A., Imm,A., Briese,S., Lennert,T., Fuchshuber,A., Nurnberg,P., and Hildebrandt,F. (2003). A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2. J Am Soc. Nephrol. 14, 1519-1522.

Tonnies,H., Hennies,H.C., Spohr,H.L., and Neitzel,H. (2003). Characterization of the first supernumerary tricentric ring chromosome 1 mosaicism by conventional and molecular cytogenetic techniques. Cytogenet. Genome Res. 103, 28-33.



Appel,S., Filter,M., Reis,A., Hennies,H.C., Bergheim,A., Ogilvie,E., Arndt,S., Simmons,A., Lovett,M., Hide,W., Ramsay,M., Reichwald,K., Zimmermann,W., and Rosenthal,A. (2002). Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759. Eur J Hum Genet. 10, 17-25.

Kuster,W., Reis,A., and Hennies,H.C. (2002). Epidermolytic palmoplantar keratoderma of Vorner: re-evaluation of Vorner's original family and identification of a novel keratin 9 mutation. Arch Dermatol Res. 294, 268-272.

Otto,E., Hoefele,J., Ruf,R., Mueller,A.M., Hiller,K.S., Wolf,M.T., Schuermann,M.J., Becker,A., Birkenhager,R., Sudbrak,R., Hennies,H.C., Nurnberg,P., and Hildebrandt,F. (2002). A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet. 71, 1161-1167.

van Geel,M., van Steensel,M.A., Kuster,W., Hennies,H.C., Happle,R., Steijlen,P.M., and Konig,A. (2002). HID and KID syndromes are associated with the same connexin 26 mutation. Br J Dermatol. 146, 938-942.



Appel,S., Reichwald,K., Zimmermann,W., Reis,A., Rosenthal,A., and Hennies,H.C. (2001). Identification and localization of a new human myotubularin-related protein gene, mtmr8, on 8p22-p23. Genomics. 75, 6-8.

Hunt,D.M., Rickman,L., Whittock,N.V., Eady,R.A., Simrak,D., Dopping-Hepenstal,P.J., Stevens,H.P., Armstrong,D.K., Hennies,H.C., Kuster,W., Hughes,A.E., Arnemann,J., Leigh,I.M., McGrath,J.A., Kelsell,D.P., and Buxton,R.S. (2001). Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma. Eur J Hum Genet. 9, 197-203.

Krebsova,A., Kuster,W., Lestringant,G.G., Schulze,B., Hinz,B., Frossard,P.M., Reis,A., and Hennies,H.C. (2001). Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity. Am J Hum Genet. 69, 216-222.

Leal,A., Morera,B., Del,V.G., Heuss,D., Kayser,C., Berghoff,M., Villegas,R., Hernandez,E., Mendez,M., Hennies,H.C., Neundorfer,B., Barrantes,R., Reis,A., and Rautenstrauss,B. (2001). A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3. Am J Hum Genet. 68, 269-274.

Lestringant,G.G., Frossard,P.M., Eckl,K.M., Reis,A., and Hennies,H.C. (2001). Genetic and clinical heterogeneity in transgressive palmoplantar keratoderma. J Invest Dermatol. 116, 825-827.

Schmitt-Egenolf,M., Windemuth,C., Hennies,H.C., bis-Camps,M., von,E.B., Wienker,T., Reis,A., Traupe,H., and Blasczyk,R. (2001). Comparative association analysis reveals that corneodesmosin is more closely associated with psoriasis than HLA-Cw*0602-B*5701 in German families. Tissue Antigens. 57, 440-446.

Witt,H., Hennies,H.C., and Becker,M. (2001). SPINK1 mutations in chronic pancreatitis. Gastroenterology. 120, 1060-1061.



Krebsova,A., Hamm,H., Karl,S., Reis,A., and Hennies,H.C. (2000). Assignment of the gene for a new hereditary nail disorder, isolated congenital nail dysplasia, to chromosome 17p13. J Invest Dermatol. 115, 664-667.

Kuster,W., Hennies,H.C., and Happle,R. (2000). [Mapping and molecular analysis of hereditary skin diseases. The status of current research]. Hautarzt. 51, 906-914.

Witt,H., Luck,W., Hennies,H.C., Classen,M., Kage,A., Lass,U., Landt,O., and Becker,M. (2000). Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nat Genet. 25, 213-216.