Search

Your search keyword '"Schindera F"' showing total 9 results
Start Over Author "Schindera F" Search Limiters Full Text
9 results on '"Schindera F"'

1. Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

Author

Schueler, Markus, Halbritter, Jan, Phelps, Ian G, Braun, Daniela A, Otto, Edgar A, Porath, Jonathan D, Gee, Heon Yung, Shendure, Jay, OʼRoak, Brian J, Lawson, Jennifer A, Nabhan, Marwa M, Soliman, Neveen A, Doherty, Dan, Hildebrandt, Friedhelm, Yalcinkaya, F, Bakkaloglu, S, Ozaltin, F, Comak, E, Krull, F, Schmitz-Hübner, Rupprecht, H, Muller, D, Dahlem, P, Hoppe, B, Wolfe, M, Weber, M, Vester, U, Bonzel, K, Nikolay, J, Hansmann, I, Wiefel, M, Orth, U, Pfleiderer, H, Pape, L, Morlot, Ehrich, J, Tonshoff, B, Schindera, F, Hoefele, J, Griebel, M, Broeking, E, Konrad, M, Radke, M, Brandis, M, Kirchhoff, A, Feygina, V, Springate, J, Ahmadzdeh, S, Gipson, D, Becker, A, Dharnidharka, V, Mark, P, Srivaths, P, Wilson, A, Kamil, E, Why, S, Pan, C, Kashtan, C, D’Alessandri, C, Trachtman, H, Kaplan, B, Joseph, M, Weiss, R, Thomas, S, Newberry, L, Koyun, M, Fathy, H, RybiSzuminska, A, Szczepanska, M, Dolezel, Z, Malina, M, Seeman, T, Honzik, T, Ferreira, P, Ferguson, M, Harvey, E, Chong, K, Sandford, R, Josifova, D, Bockenhauer, D, Sayer, J, Johnson, C, Senguttuvan, P, Pela, I, Knops, N, Levart, T, Neuhaus, T, Ayuso, C, Kindi, A, Knoers, N, Antignac, C, Radauer, W, Genzani, C, Berg, U, Klingenberg, C, Jones, C, Savarirayan, R, and Kausman, J

Published
2016
Full Text
View/download PDF

8. Therapy for systemic juvenile rheumatoid arthritis with gamma-interferon: a pilot study of nine patients.

Author

Pernice W, Schuchmann L, Dippell J, Suschke J, Vogel P, Truckenbrodt H, Schindera F, Humburg C, and Brzoska J

Subjects
Arthritis, Juvenile pathology, Child, Child, Preschool, Humans, Pilot Projects, Recombinant Proteins, Arthritis, Juvenile therapy, Interferon-gamma therapeutic use
Abstract

Nine severely ill patients with a confirmed diagnosis of systemic juvenile rheumatoid arthritis were treated with recombinant gamma-interferon (gamma-IFN) in addition to the therapy they were previously receiving for their disease. Improvements in clinical symptoms were noted in 7 of the patients, and median laboratory values also showed a marked improvement after gamma-IFN treatment. A relapse occurred in 1 patient. The results of this study should stimulate further research on the use of gamma-IFN in systemic juvenile rheumatoid arthritis, particularly in determining the appropriate effective dosage.

Published
1989
Full Text
View/download PDF

9. Leukodystrophy, skin hyperpigmentation, and adrenal atrophy: Siemerling-Creutzfeldt disease. Transmission through several generations in two families.

Author

Ropers HH, Burmeister P, Petrykowski Wv, and Schindera F

Subjects
Adrenal Cortex Hormones blood, Adrenocorticotropic Hormone blood, Atrophy, Chromosome Aberrations, Chromosome Disorders, Female, Genes, Dominant, Genes, Recessive, Genetic Linkage, Heterozygote, Homozygote, Humans, Male, Pedigree, Sex Chromosomes, Syndrome, Adrenal Insufficiency genetics, Leukodystrophy, Metachromatic genetics, Pigmentation Disorders genetics
Abstract

Two apparently unrelated families with a history of leukodystrophy associated with adrenal insufficiency are presented. Only about 20 cases of this syndrome have been reported until now. It was first described by Siemerling and Creutzfeldt; therefore we propose the designation Siemerling-Creutzfeldt disease. Our pedigrees include 15 additional cases and prove that this disease is inherited as an X-linked or as an autosomal dominant trait with male sex limitation. Within these families, the interindividual variability of clinical signs is remarkable. Patients can survive into the fifth decade, and one has reproduced. Attempts to identify heterozygotes on the basis of endocrinologic investigations were unsuccessful.

Published
1975

Catalog

Books, media, physical & digital resources
See catalog results