Wissenschaftliche Arbeiten, Forschungsprojekte

Nachfolgend finden Sie Wissenschaftliche Arbeiten sowie Forschungsprojekte zum Thema ed.

Ectodysplasin A in biological fluids of ectodermal dysplasia

J. Dent. Res. 96, 217-224

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. (2017)

Unconditionally? Daring to have ordinary children in an age of technical perfection.

Bedingungslos? Kinder als Wagnis im Zeitalter der technischen Perfektionierung

Imago Hom. 24, 11-13

Schneider, H. (2017)

Automatic recognition of the XLHED phenotype from facial images.

Am. J. Med. Genet. Part A 173, 2408-2414

Hadj-Rabia, S., Schneider, H., Navarro, E., Klein, O., Kirby, N., Huttner, K., Wolf, L., Orin, M., Wohlfart, S., Bodemer, C., Grange, D. (2017)

Hypohidrotic Ectodermal Dysplasia: Breastfeeding Complications Due to Impaired Breast Development.

Hypohidrotische ektodermale Dysplasie: Stillschwierigkeiten aufgrund gestörter Brustentwicklung.

Geburth. Frauenheilkunde 77, 377-382

Wahlbuhl-Becker M., Faschingbauer F., Beckmann M.W., Schneider H. (2017)

A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidroticectodermal dysplasia.

Am. J. Med. Genet. Part A 170, 249-253

Wohlfart, S. Söder, S., Smahi, A., Schneider, H. (2016)

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

Wohlfart, S., Hammersen, J., Schneider, H. (2016)

Non-invasive prenatal diagnosis of hypohidrotic ectodermal dysplasia by tooth germ sonography.

Ultraschall Med. 36, 381-385

Wünsche S., Jüngert J., Faschingbauer F., Mommsen H., Goecke T., Schwanitz K., Stepan H.,
Schneider H. (2015)

Diagnosis of X-linked hypohidrotic ectodermal dysplasia by meibography and infrared thermography of the eye.

Curr. Eye Res. 40, 884-890

Kaercher, T., Dietz, J., Jacobi, C., Berz, R., Schneider, H. (2015)

Second International Conference on a classification of ectodermal dysplasias: Development of a multiaxis model.

Am J. Med. Genet. Part A, 164, 2482-2489

Salinas, C.F., Irvine, A.D., Itin, P.H., Di Giovanna, J.J., Schneider, H., Clarke, A.J., Sternesky McGovern, L.,
Fete, M. (2014)

Generation and characterization of function blocking anti-ectodysplasin A (EDA) monoclonal antibodies that induce ectodermal dysplasia.

J. Biol. Chem. 289, 4273-4285

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. (2014)

Consider further differential diagnoses.

Commentary on the paper „The febrile child: diagnosis and treatment“

Dtsch Ärztebl Int. 111, 251

Schneider, H. (2014)

Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia.

Am J. Med. Genet. Part A, 164, 2424-2432

Burger, K., Schneider, A.T., Wohlfart, S., Kiesewetter, F., Huttner, K., Johnson, R., Schneider, H. (2014)

Prenatal therapy in developmental disorders: drug targeting via intra-amniotic injection to treat X-linked hypohidrotic ectodermal dysplasia.

J. Invest. Dermatol. 134, 2985-2987

Hermes, K., Schneider, P., Krieg, P., Dang, A., Huttner, K., Schneider, H. (2014)

Early respiratory and ocular involvement in X-linked hypohidrotic ectodermal dysplasia.

Eur. J. Pediatr. 172, 1023–1031

Dietz, J., Kaercher, T., Schneider, A.-T., Zimmermann, T., Huttner, K., Johnson, R., Schneider, H. (2013)

Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome.

PMID: 22759387 [PubMed – as supplied by publisher]

Knaudt B, Volz T, Krug M, Burgdorf W, Röcken M, Berneburg M.

Source: Department of Dermatology, Eberhard Karls University, Liebermeisterstrasse 25, D-72076 Tübingen, Germany.

Systematic evaluation of exertional hyperthermia in children and adolescents with hypohidrotic ectodermal dysplasia: an observational study

Pediatr. Res. 70, 297-301

Hammersen, J.E., Neukam, V., Nüsken, K.D., Schneider, H. (2011)

Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia

J. Med. Genet. 48, 426-432
doi: 10.1136/jmg.2010.084012

Schneider, H., Hammersen, J., Preisler-Adams, S., Huttner, K., Rascher, W., Bohring, A. (2011)

Ocular symptoms and signs in ectodermal dysplasia syndromes.

Graefes Arch Clin Exp Ophthalmol 2004, 242,495-500.

Kaercher, T.

Prevalence and prevention of severe complications of hypohidrotic ectodermal dysplasia in infancy

Early Hum. Dev. 86, 397-399

Blüschke, G., Nüsken, K.-D., Schneider, H. (2010):

WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.

Am J Hum Genet 85:97-105.

Studie der Uni Münster.

Bohring A, Stamm T, Spaich C, Haase C, Spree K, Hehr U, Hoffann M, Ledig S, Sel S, Wieacker P, Röpke A (2009).