ausgewählte Publikationen

Ektodermale Dysplasien

Sprecher:
Prof. Dr. med. Holm Schneider

Ferstl, P., Wohlfart, S., Schneider, H.: Sweating ability of patients with p63-associated syndromes. Eur. J. Pediatr. (2018) doi: 10.1007/s00431-018-3227-6

Schneider, H., Faschingbauer, F., Schuepbach-Mallepell, S., Körber, I., Wohlfart, S., Dick, A., Wahlbuhl, M., Kowalczyk-Quintas, C., Vigolo, M., Kirby, N., Tannert, C., Rompel, O., Rascher, W., Beckmann, M.W., Schneider, P.: Prenatal correction of X-linked hypohidrotic ectodermal dysplasia. N. Engl. J. Med. 378, 1604-1610 (2018)

Wahlbuhl, M., Schuepbach-Mallepell, S., Kowalczyk-Quintas, C., Dick, A., Fahlbusch, F.B., Schneider, P., Schneider, H.: Attenuation of mammary gland dysplasia and feeding difficulties in Tabby mice by fetal therapy. J. Mammary Gland Biol. Neoplasia 23, 125-138 (2018)

Hadj-Rabia, S., Schneider, H., Navarro, E., Klein, O., Kirby, N., Huttner, K., Wolf, L., Orin, M., Wohlfart, S., Bodemer, C., Grange, D.: Automatic recognition of the XLHED phenotype from facial images. Am. J. Med. Genet. Part A 173, 2408-2414 (2017)

Schneider, H.: Unconditionally? Daring to have ordinary children in an age of technical perfection. Imago Hom. 24, 11-13 (2017)

Wahlbuhl-Becker, M., Faschingbauer, F., Beckmann, M.W., Schneider, H.: Hypohidrotic ectodermal dysplasia: Breastfeeding complications due to impaired breast development. Geburtsh. Frauenheilk. 77, 377-382 (2017)

Podzus, J., Kowalczyk-Quintas, C., Schuepbach-Mallepell, S., Willen, L., Staehlin, G., Vigolo, M., Tardivel, A., Headon, D., Kirby, N., Mikkola, M., Schneider, H., Schneider, P.: Ectodysplasin A in biological fluids and diagnosis of ectodermal dysplasia. J. Dent. Res. 96, 217-224 (2017)

Wohlfart, S., Hammersen, J., Schneider, H.: Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in four independent cases of rare genomic rearrangements. J. Hum. Genet. 61, 891-897 (2016)

Wohlfart, S. Söder, S., Smahi, A., Schneider, H.: A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia. Am. J. Med. Genet. Part A 170, 249-253 (2016)

Wünsche, S., Jüngert, J., Faschingbauer, F., Mommsen, H., Goecke, T., Schwanitz, K., Stepan, H., Schneider, H.: Non-invasive prenatal diagnosis of hypohidrotic ectodermal dysplasia by tooth germ sonography. Ultraschall Med. 36, 381-385 (2015)

Kaercher, T., Dietz, J., Jacobi, C., Berz, R., Schneider, H.: Diagnosis of X-linked hypohidrotic ectodermal dysplasia by meibography and infrared thermography of the eye. Curr. Eye Res. 40, 884-890 (2015)

Hermes, K., Schneider, P., Krieg, P., Dang, A., Huttner, K., Schneider, H.: Prenatal therapy in developmental disorders: drug targeting via intra-amniotic injection to treat X-linked hypohidrotic ectodermal dysplasia. J. Invest. Dermatol. 134, 2985-2987 (2014)

Kowalczyk-Quintas, C., Willen, L., Dang, A., Sarrasin, H., Tardivel, A., Hermes, K., Schneider, H., Gaide, O., Donzé, O., Kirby, N., Headon, D.J., Schneider, P.: Generation and characterization of function blocking anti-ectodysplasin A (EDA) monoclonal antibodies that induce ectodermal dysplasia. J. Biol. Chem. 289, 4273-4285 (2014)

Burger, K., Schneider, A.T., Wohlfart, S., Kiese-wetter, F., Huttner, K., Johnson, R., Schneider, H.: Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia. Am J. Med. Genet. Part A, 164, 2424-2432 (2014)

Salinas, C.F., Irvine, A.D., Itin, P.H., Di Giovanna, J., Schneider, H., Clarke, A.J., Sternesky McGovern, L., Fete, M.: Second International Conference on a classification of ectodermal dysplasias: Development of a multiaxis model. Am J. Med. Genet. Part A, 164, 2482-2489 (2014)

Dietz, J., Kaercher, T., Schneider, A.T., Zimmermann, T., Huttner, K., Johnson, R., Schneider, H.: Early respiratory and ocular involvement in X-linked hypohidrotic ectodermal dysplasia. Eur. J. Pediatr. 172, 1023-1031 (2013)

Hammersen, J., Neukam, V., Nüsken, K.-D., Schneider, H.: Systematic evaluation of exertional hyperthermia in children with hypohidrotic ectodermal dysplasia: an observational study. Pediatr. Res. 70, 297-301 (2011)

Schneider, H., Hammersen, J., Preisler-Adams, S., Huttner, K., Rascher, W., Bohring, A.: Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia. J. Med. Genet. 48, 426-432 (2011)

 
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