Items where Author is Hennies, Hans

2017

Oji, V., Preil, M.L., Kleinow, B., Wehr, G., Fischer, J., Hennies, Hans C., Hausser, I., Breitkreutz, D., Aufenvenne, K., Stieler, K., Tantcheva- Poór, I., Weidinger, S., Emmert, S., Hamm, H., Perusquia-Ortiz, A.M., Zaraeva, I., Diem, A., Giehl, K., Fölster-Holst, R., Kiekbusch, K., Höger, P., Ott, H. and Traupe, H. (2017) S1 guidelines for the diagnosis and treatment of ichthyoses – update. Journal der Deutschen Dermatologischen Gesellschaft, 15 (10). pp. 1053-1065. ISSN 1610-0379

Ammann, Sandra, Lehmberg, Kai, zur Stadt, Udo, Klemann, Christian, Bode, Sebastian F. N., Speckmann, Carsten, Janka, Gritta, Wustrau, Katharina, Rakhmanov, Mirzokhid, Fuchs, Ilka, Hennies, Hans C. and Ehl, Stephan (2017) Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis. Journal of Clinical Immunology. ISSN 0271-9142

Ng, Michael, Thakkar, Dipti, Southam, Lorraine, Werker, Paul, Ophoff, Roel, Becker, Kerstin, Nothnagel, Michael, Franke, Andre, Nürnberg, Peter, Espirito-Santo, Ana, Izadi, David, Hennies, Hans C., Nanchahal, Jagdeep, Zeggini, Eleftheria and Furniss, Dominic (2017) A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis. American Journal of Human Genetics, 101 (3). pp. 417-427. ISSN 1537-6605

Gruber, R., Rainer, G., Weiss, A., Udvardi, A., Thiele, H., Eckl, K.M., Schupart, R., Nürnberg, P., Zschocke, J., Schmuth, M., Volc-Platzer, B. and Hennies, Hans C. (2017) Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations. British Journal of Dermatology, 176 (4). pp. 1068-1073. ISSN 0007-0963

2016

Kapferer-Seebacher, I. et al. (2016) Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. American Journal of Human Genetics, 99. pp. 1-10. ISSN 1537-6605

Becker, K., Siegert, S., Toliat, M.R., Du, J., Casper, R., Dolmans, G.H., Werker, P.M., Tinschert, S., Franke, A., Gieger, C., Strauch, K., Nothnagel, M., Nürnberg, P. and Hennies, Hans C. (2016) Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren’s Disease. PLoS ONE. ISSN 1932-6203

Ammann, S., Schulz, A., Krägeloh-Mann, I., Dieckmann, N.M., Niethammer, K., Fuchs, S., Eckl, K.M., Plank, R., Werner, R., Altmüller, J., Thiele, H., Nürnberg, P., Bank, J., Strauss, A., von Bernuth, H., Zur Stadt, U., Grieve, S., Griffiths, G.M., Lehmberg, K., Hennies, Hans C. and Ehl, S. (2016) Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood, 127 (8). pp. 997-1006. ISSN 0006-4971

2015

Gruber, R., Börnchen, C., Rose, K., Daubmann, A., Volksdorf, T., Wladykowski, E., Vidal, Y.Sy S., Peters, E.M., Danso, M., Bouwstra, J.A., Hennies, Hans C., Moll, I., Schmuth, M. and Brandner, J.M. (2015) Diverse regulation of claudin-1 and claudin-4 in atopic dermatitis. American Journal of Physical Anthropology, 185 (10). pp. 2777-2789. ISSN 0002-9483

Hennies, Hans C. (2015) All is balanced: inter-alpha-trypsin inhibitors as unseen extracellular matrix proteins in epidermal morphology and differentiation. Experimental dermatology, 24 (9). pp. 661-662. ISSN 1600-0625

Becker, K., Tinschert, S., Lienert, A., Bleuler, P.E., Staub, F., Meinel, A., Rössler, J., Wach, W., Hoffmann, R., Kühnel, F., Damert, H.G., Nick, H.E., Spicher, R., Lenze, W., Langer, M., Nürnberg, P. and Hennies, Hans C. (2015) The importance of genetic susceptibility in Dupuytren's disease. Clinical Genetics, 87 (5). pp. 483-487. ISSN 0009-9163

Gruber, R., Sugarman, J.L., Crumrine, D., Hupe, M., Mauro, T.M., Mauldin, E.A., Thyssen, J.P., Brandner, J.M., Hennies, Hans C., Schmuth, M. and Elias, P.M. (2015) Sebaceous gland, hair shaft, and epidermal barrier abnormalities in keratosis pilaris with and without filaggrin deficiency. The American Journal of Pathology, 185 (4). pp. 1012-1021. ISSN 0002-9440

Moosbrugger-Martinz, V., Jalili, A., Schossig, A.S., Jahn-Bassler, K., Zschocke, J., Schmuth, M., Stingl, G., Eckl, K.M., Hennies, Hans C. and Gruber, R. (2015) Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA. British Journal of Dermatology, 172 (6). pp. 1628-1632. ISSN 0007-0963

Witting, M., Molina, M., Obst, K., Plank, R., Eckl, K.M., Hennies, Hans C., Calderon, M., Friess, W. and Hedtrich, S. (2015) Thermosensitive dendritic polyglycerol-based nanogels for cutaneous delivery of biomacromolecules. Nanomedicine, 11 (5). pp. 1179-1187. ISSN 1549-9634

Seifert, W., Kühnisch, J., Maritzen, T., Lommatzsch, S., Hennies, Hans C., Bachmann, S., Horn, D. and Haucke, V. (2015) Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth. Journal of Biological Chemistry, 290 (6). pp. 3349-3358. ISSN 0021-9258

2014

Alnasif, N., Zoschke, C., Fleige, E., Brodwolf, R., Boreham, A., Ruhl, E., Eckl, K.M., Merk, H.F., Hennies, Hans 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. Journal of Controlled Release, 185. pp. 45-50. ISSN 0168-3659

Eckl, K.M., Weindl, G., Ackermann, K., Küchler, S., Casper, R., Radowski, M.R., Haag, R., Hennies, Hans C. and Schäfer-Korting, M. (2014) Increased cutaneous absorption reflects impaired barrier function of reconstructed skin models mimicking keratinisation disorders. Experimental dermatology, 23 (4). pp. 286-288. ISSN 1600-0625

Schiller, S., Seebode, C., Hennies, Hans C., Giehl, K. and Emmert, S. (2014) Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease. Journal der Deutschen Dermatologischen Gesellschaft, 12 (9). pp. 781-788. ISSN 1610-0379

2013

Eckl, K.M., Tidhar, R., Thiele, H., Oji, V., Hausser, I., Brodesser, S., Preil, M.L., Önal-Akan, A., Stock, F., Muller, D., Becker, K., Casper, R., Nürnberg, G., Altmüller, J., Nürnberg, P., Traupe, H., Futerman, A.H. and Hennies, Hans 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 (9). pp. 2202-2211. ISSN 0022-202X

Nellen, R.G., Steijlen, P.M., Hennies, Hans C., Fischer, J., Munro, C.S., Jonkman, M.F., van Steensel, M.A. 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 (6). pp. 1372-1374. ISSN 0007-0963

Pasternack, S.M., Refke, M., Paknia, E., Hennies, Hans C., Franz, T., Schäfer, N., Fryer, A., van Steensel, M., Sweeney, E., Just, M., Grimm, C., Kruse, R., Ferrandiz, C., Nöthen, 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. The American Journal of Human Genetics, 92 (1). pp. 81-87. ISSN 0002-9297

Shao, K., Koch, C., Gupta, M.K., Lin, Q., Lenz, M., Laufs, S., Denecke, B., Schmidt, M., Linke, M., Hennies, Hans 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. Molecular Therapy—Nucleic Acids, 21 (1). pp. 240-250. ISSN 2162-2531

2012

Jansen, P.A., van den Bogaard, E.H., Kersten, F.F., Oostendorp, C., van Vlijmen-Willems, I.M., Oji, V., Traupe, H., Hennies, Hans C., Schalkwijk, J. and Zeeuwen, P.L. (2012) Cystatin M/E knockdown by lentiviral delivery of shRNA impairs epidermal morphogenesis of human skin equivalents. Experimental dermatology, 21 (11). pp. 889-891. ISSN 1600-0625

Aufenvenne, K., Rice, R.H., Hausser, I., Oji, V., Hennies, Hans 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. Journal of Investigative Dermatology, 132 (7). pp. 1918-1921. ISSN 0022-202X

Hussain, M.S., Baig, S.M., Neumann, S., Nürnberg, G., Farooq, M., Ahmad, I.A., Alef, T., Hennies, Hans 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. The American Journal of Human Genetics, 90 (5). pp. 871-878. ISSN 0002-9297

Blaydon, D.C., Etheridge, S.L., Risk, J.M., Hennies, Hans 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. The American Journal of Human Genetics, 90 (2). pp. 340-346. ISSN 0002-9297

2011

Fatima, A., Xu, G., Shao, K., Papadopoulos, S., Lehmann, M., Arnaiz-Cot, J.J., Rosa, A.O., Nguemo, F., Matzkies, M., Dittmann, S., Stone, S.L., Linke, M., Zechner, U., Beyer, V., Hennies, Hans 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 (4). pp. 579-592. ISSN 1015-8987

Dolmans, G.H. and Hennies, Hans C. (2011) The genetic basis of Dupuytren's disease. In: Morbus Dupuytren and related hyperproliferative disorders. Springer, Heidelberg, pp. 89-91. ISBN 978-3-642-22696-0

Seifert, W., Kühnisch, J., Maritzen, T., Horn, D., Haucke, V. and Hennies, Hans C. (2011) The Cohen syndrome-associated protein COH1 is a novel giant golgi matrix protein required for golgi integrity. Journal of Biological Chemistry, 286 (43). pp. 37665-37675. ISSN 0021-9258

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, Hans 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. (2011) Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata. European Journal of Human Genetics, 20 (3). pp. 326-332. ISSN 1018-4813

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, Hans 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. The American Journal of Human Genetics, 89 (4). pp. 564-571. ISSN 0002-9297

Küchler, S., Henkes, D., Eckl, K.M., Ackermann, K., Plendl, J., Korting, H.C., Hennies, Hans C. and Schäfer-Korting, M. (2011) Hallmarks of atopic skin in vitro - Mimicked by the means of a skin disease model based on FLG knock down. Alternatives to Laboratory Animals, 39 (5). pp. 471-480. ISSN 0261-1929

Eckl, K.M., Alef, T., Torres, S. and Hennies, Hans C. (2011) Full-Thickness Human Skin Models for Congenital Ichthyosis and Related Keratinization Disorders. Journal of Investigative Dermatology, 131 (9). pp. 1938-1942. ISSN 0022-202X

Nousbeck, J., Ishida-Yamamoto, A., Bidder, M., Fuchs, D., Eckl, K.M., Hennies, Hans 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 (8). pp. 1767-1770. ISSN 0022-202X

Dolmans, G.H., Werker, P.M., Hennies, Hans 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., Nürnberg, P., Giele, H., Ophoff, R.A. and Wijmenga, C. (2011) Wnt signaling and Dupuytren's disease. New England Journal of Medicine, 365 (4). pp. 307-317. ISSN 0028-4793

Gruber, R., Hennies, Hans 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 (6). pp. 748-750. ISSN 0003-987X

Arweiler-Harbeck, D., Horsthemke, B., Jahnke, K. and Hennies, Hans C. (2011) Genetic Aspects of Familial Meniere's Disease. Otology and Neurotology, 32 (4). pp. 695-700. ISSN 1531-7129

Furniss, D., Dolmans, G.H. and Hennies, Hans C. (2011) Genome-wide association scan of Dupuytren's disease. Journal of Hand Surgery, 36 (4). pp. 755-756. ISSN 0363-5023

Fuchs-Telem, D., Stewart, H., Rapaport, D., Nousbeck, J., Gat, A., Gini, M., Lugassy, Y., Emmert, S., Eckl, K.M., Hennies, Hans 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 (3). pp. 610-616. ISSN 0007-0963

2010

Oji, V., Tadini, G., Akiyama, M., Blanchet, Bardon 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, Hans 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, Steensel 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. Journal of American Academy of Dermatology, 63 (4). pp. 607-641. ISSN 0190-9622

Oji, V., Eckl, K.M., Aufenvenne, K., Natebus, M., Tarinski, T., Ackermann, K., Seller, N., Metze, D., Nürnberg, G., Fölster-Holst, R., Schäfer-Korting, M., Hausser, I., Traupe, H. and Hennies, Hans C. (2010) Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. American Journal of Human Genetics, 87 (2). pp. 274-281. ISSN 1537-6605

Trindade, F., Fiadeiro, T., Torrelo, A., Hennies, Hans C., Hausser, I. and Traupe, H. (2010) Bathing suit ichthyosis. European Journal Dermatology, 20 (4). pp. 447-450. ISSN 1167-1122

2009

Hennies, Hans C. and Traupe, H. (2009) Genetic skin disorders. Medizinische Genetik, 21 (4). pp. 469-470. ISSN 0936-5931

Oji, V., Traupe, H. and Hennies, Hans C. (2009) Molecular characterization of ichthyoses. New aspects of terminology and classification. Medizinische Genetik, 21 (4). pp. 479-486. ISSN 0936-5931

Eckl, K.M. and Hennies, Hans C. (2009) Disease-specific skin models: In vitro models for the development of treatment approaches to inherited disorders of cornification as illustrated by congenital ichthyosis. Medizinische Genetik, 21 (4). pp. 487-492. ISSN 0936-5931

Zur Stadt, U., Rohr, J., Seifert, W., Koch, F., Grieve, S., Pagel, J., Strauss, J., Kasper, B., Nürnberg, G., Becker, C., Maul-Pavicic, A., Beutel, K., Janka, G., Griffiths, G., Ehl, S. and Hennies, Hans C. (2009) Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. American Journal of Human Genetics, 85 (4). pp. 482-492. ISSN 1537-6605

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, Hans C., Bergman, R., Horowitz, M., Ishida-Yamamoto, A. and Sprecher, E. (2009) RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. American Journal of Human Genetics, 85 (2). pp. 254-263. ISSN 1537-6605

Aufenvenne, K., Oji, V., Walker, T., Becker-Pauly, C., Hennies, Hans C., Stöcker, W. and Traupe, H. (2009) Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions. Journal of Investigative Dermatology, 129 (8). pp. 2068-2071. ISSN 0022-202X

Eckl, K.M., de Juanes, S., Kurtenbach, J., Natebus, M., Lugassy, J., Oji, V., Traupe, H., Preil, M.L., Martinez-Vidal, F., Smolle, J., Harel, A., Krieger, P., Sprecher, E. and Hennies, Hans C. (2009) Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: Evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. Journal of Investigative Dermatology, 129 (6). pp. 1421-1428. ISSN 0022-202X

Alef, T., Torres, S., Hausser, I., Metze, D., Tursen, U., Lestringant, G.G. and Hennies, Hans C. (2009) Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 Is associated with impaired profilaggrin processing. Journal of Investigative Dermatology, 129 (4). pp. 862-869. ISSN 0022-202X

2008

Lugassy, J., Hennies, Hans C., Indelman, M., Khamaysi, Z., Bergman, R. and Sprecher, E. (2008) Rapid detection of homozygous mutations in congenital recessive ichthyosis. Archives of Dermatological Research, 300 (2). pp. 81-85. ISSN 0340-3696

Seifert, W., Holder-Espinasse, M., Kühnisch, J., Kahrizi, K., Tzschach, A., Garshasbi, M., Najmabadi, H., Walter, Kuss A., Kress, W., Laureys, G., Loeys, B., Brilstra, E., Mancini, G.M., Dollfus, H., Dahan, K., Apse, K., Hennies, Hans C. and Horn, D. (2008) Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. Human Mutation, 30 (2). pp. 404-420. ISSN 1059-7794

Hennies, Hans C., Kornak, U., Zhang, H., Egerer, J., Zhang, X., Seifert, W., Kühnisch, 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., Nürnberg, P., Wieacker, P. and Mundlos, S. (2008) Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nature Genetics, 40 (12). pp. 1410-1412. ISSN 1061-4036

Haenssle, H.A., Finkenrath, A., Hausser, I., Oji, V., Traupe, H., Hennies, Hans C., Neumann, C. and Emmert, S. (2008) Effective treatment of severe thermodysregulation by oral retinoids in a patient with recessive congenital lamellar ichthyosis. Clinical and Experimental Dermatology, 33 (5). pp. 578-581. ISSN 0307-6938

Stuhrmann, M., Hennies, Hans C., Bukhari, I.A., Brakensiek, K., Nürnberg, 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. Clinical Genetics, 73 (6). pp. 566-572. ISSN 0009-9163

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, Hans C., Kruse, R. and Nöthen, M.M. (2008) Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26. American Journal of Human Genetics, 82 (3). pp. 737-743. ISSN 1537-6605

2007

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, Hans C., Nürnberg, 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. American Journal of Medical Genetics. Part A, 143A (20). pp. 2382-2389. ISSN 1552-4825

Vago, B., Hausser, I., Hennies, Hans C., Enk, A. and Jappe, U. (2007) Hyalinosis cutis et mucosae. Journal der Deutschen Dermatologischen Gesellschaft, 5 (5). pp. 401-405. ISSN 1610-0379

Uyguner, O., Kayserili, H., Li, Y., Karaman, B., Nürnberg, G., Hennies, Hans C., Becker, C., Nürnberg, 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. Clinical Genetics, 71 (3). pp. 212-219. ISSN 0009-9163

2006

Cichon, S., Martin, L., Hennies, Hans C., Muller, F., Van Driessche, K., Karpushova, A., Stevens, W., Colombo, R., Renne, T., Drouet, C., Bork, K. and Nöthen, M.M. (2006) Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. American Journal of Human Genetics, 79 (6). pp. 1098-1104. ISSN 1537-6605

Gedicke, M.M., Traupe, H., Fischer, B., Tinschert, S. and Hennies, Hans C. (2006) Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature. British Journal of Dermatology, 154 (1). pp. 167-171. ISSN 0007-0963

Hinkes, B. et al. (2006) Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nature Genetics, 38 (12). pp. 1397-1405. ISSN 1061-4036

Vanita, V., Hennies, Hans C., Singh, D., Nürnberg, 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. Molecular Vision, 12:121. pp. 1217-1222. ISSN 1090-0535

Lugassy, J., Itin, P., Ishida-Yamamoto, A., Holland, K.R., Huson, S., Geiger, D., Hennies, Hans 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. American Journal of Human Genetics, 79 (4). pp. 724-730. ISSN 1537-6605

Oji, V., Hautier, J.M., Ahvazi, B., Hausser, I., Aufenvenne, K., Walker, T., Seller, N., Steijlen, P.M., Küster, W., Hovnanian, A., Hennies, Hans C. and Traupe, H. (2006) Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. Human Molecular Genetics, 15 (21). pp. 3083-3097. ISSN 0964-6906

Mizrachi-Koren, M., Shemer, S., Morganti, M., Indelman, M., Khamaysi, Z., Petronius, D., Bitterman-Deutsch, O., Hennies, Hans C., Bergman, R. and Sprecher, E. (2006) Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations. Journal of American Academy of Dermatology, 55 (3). pp. 393-401. ISSN 0190-9622

Fürstenberger, G., Epp, N., Eckl, K.M., Hennies, Hans C., Jorgensen, C., Hallenborg, P., Kristiansen, K. and Krieg, P. (2006) Role of epidermis-type lipoxygenases for skin barrier function and adipocyte differentiation. Prostaglandins Other Lipid Mediators, 82 (1-4). pp. 128-134.

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, Hans C., Thierfelder, L. and MacRae, C.A. (2006) A novel locus for dilated cardiomyopathy, diffuse myocardial fibrosis, and sudden death on chromosome 10q25-26. Journal of the American College of Cardiology, 48 (1). pp. 106-111. ISSN 0735-1097

Todt, I., Hennies, Hans C., Küster, 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. Audiology Neurotology, 11 (4). pp. 242-248. ISSN 1420-3030

Sayer, J.A. et al. (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nature Genetics, 38 (6). pp. 674-681. ISSN 1061-4036

Vanita, V., Singh, J.R., Hejtmancik, J.F., Nürnberg, P., Hennies, Hans C., Singh, D. and Sperling, K. (2006) A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family. Molecular Vision, 12. pp. 518-522. ISSN 1090-0535

Wolf, M.T., Mucha, B.E., Hennies, Hans 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. Human Genetics, 119 (6). pp. 649-658. ISSN 0340-6717

Vanita, V., Hejtmancik, J.F., Hennies, Hans C., Guleria, K., Nürnberg, 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. Molecular Vision, 12. pp. 93-99. ISSN 1090-0535

Utsch, B., Sayer, J.A., Attanasio, M., Pereira, R.R., Eccles, M., Hennies, Hans C., Otto, E.A. and Hildebrandt, F. (2006) Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. Pediatric Nephrology, 21 (1). pp. 32-35. ISSN 0931-041X

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, Hans C. and Horn, D. (2006) Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. Journal of Medical Genetics, 43 (5). ISSN 0022-2593

2005

Zur Stadt, U., Beutel, K., Kolberg, S., Schneppenheim, R., Kabisch, H., Janka, G. and Hennies, Hans C. (2005) Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. Human Mutation, 27 (1). pp. 62-68. ISSN 1059-7794