Zobrazeno 1 - 10
of 389
pro vyhledávání: '"I. Anton-Lamprecht"'
Autor:
N. Gordjani, Martin Pohl, H. Ludwig, Ingrid Hausser, L. B. Zimmerhackl, I. Anton-Lamprecht, A. H. Sutor, Friedhelm Hildebrandt, Matthias Brandis
Publikováno v:
European Journal of Pediatrics. 157:157-160
A 1-year old male infant suffering from Netherton syndrome with severe generalized erythroderma presented with acute renal failure due to bilateral renal vein thrombosis (RVT) after a short episode of enteritis. The imperceptible fluid loss through t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5362a3a5c5ba0234fb8f10215b4dc118
https://doi.org/10.1007/s004310050789
https://doi.org/10.1007/s004310050789
Autor:
M, Möhrenschlager, W B, Rizzo, C S, Kraus, J, Limbrock, M, Cohen, I, Anton-Lamprecht, D, Abeck, J, Ring
Publikováno v:
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete. 51(4)
This rare, ubiquitous neurocutaneous disorder is inherited in an autosomal recessive fashion. Its primary clinical manifestations are congenital ichthyosis, spastic diplegia or tetraplegia, and mental retardation. The causative biochemical defect has
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::749384e81f78ab1aa8801f0092d38c36
https://pubmed.ncbi.nlm.nih.gov/10810660
https://pubmed.ncbi.nlm.nih.gov/10810660
Autor:
C B, Sørensen, A S, Ladekjaer-Mikkelsen, B S, Andresen, F, Brandrup, N K, Veien, S K, Buus, I, Anton-Lamprecht, T, Kruse, P K, Jensen, H, Eiberg, L, Bolund, N, Gregersen
Publikováno v:
Ugeskrift for laeger. 162(13)
Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant inherited skin disorders caused by mutations in the keratin genes K5 or K14. We examined five Danish families with EBS-Weber-Cockayne (WC) or EBS-Koebner (K) and two sporadic cases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3ede3277ed985cfe0af815377b670952
https://pubmed.ncbi.nlm.nih.gov/10765693
https://pubmed.ncbi.nlm.nih.gov/10765693
Publikováno v:
American journal of human genetics. 58(4)
We have previously demonstrated genetic linkage between the type VII collagen gene (COL7A1) and the dominant (DDEB) and recessive (RDEB) forms of dystrophic epidermolysis bullosa (DEB) and have subsequently identified pathogenetic mutations in severa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::812cf55f5a9b1e1decfd879da54f5467
https://pubmed.ncbi.nlm.nih.gov/8644730
https://pubmed.ncbi.nlm.nih.gov/8644730
Publikováno v:
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete. 45(11)
Erythrokeratolysis hiemalis, keratolytic winter erythema or Oudtshoorn skin has been reported from the South African district of Oudtshoorn as a dominantly inherited dermatosis beginning in early childhood, in some cases with circinar scaling erythem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e17563b454d0d2bd50fc0d09e31eea51
https://pubmed.ncbi.nlm.nih.gov/7822203
https://pubmed.ncbi.nlm.nih.gov/7822203
Autor:
I, Anton-Lamprecht, R, Rauskolb
Publikováno v:
Der Gynakologe. 27(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1c8f5c74dca74b4fae88c7e6f3543bac
https://pubmed.ncbi.nlm.nih.gov/7821861
https://pubmed.ncbi.nlm.nih.gov/7821861
Publikováno v:
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete. 45(2)
We report on a 7-year-old boy suffering from two rare genetic diseases, namely hyalinosis cutis et mucosae and Ehlers-Danlos syndrome. The diagnosis was finally established after 7 years, by means of light and electron microscopy and immunohistology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f53c85f176e0ed4de94aba1374a726bc
https://pubmed.ncbi.nlm.nih.gov/7512082
https://pubmed.ncbi.nlm.nih.gov/7512082
Publikováno v:
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete. 44(6)
A 36-year-old North American patient has been suffering from Olmsted syndrome since early childhood. This rare inborn error of keratinization consists in pronounced, multilating keratoderma of palms and soles and associated periorificial keratoses. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ba777f4bb6b73e4972cbafe248b6c56d
https://pubmed.ncbi.nlm.nih.gov/8335464
https://pubmed.ncbi.nlm.nih.gov/8335464
Publikováno v:
Archives of dermatology. 129(6)
The homogeneous material found in the skin is commonly identified as amyloid. We describe a previously unknown disease that is caused by proteinaceous deposits and that does not fulfill the criteria of the earlier recognized amyloid diseases.The unus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::33daa054b1db0ecc6e3a8cfdbaea5b03
https://pubmed.ncbi.nlm.nih.gov/8304771
https://pubmed.ncbi.nlm.nih.gov/8304771
Publikováno v:
Laryngo- rhino- otologie. 71(6)
The clinical course of an ozaena in a patient with an autosomal dominant ichthyosis vulgaris was complicated by the skin disease related atopic disposition with allergic rhinitis. Electron microscopic studies of the pathologically keratinized mucosa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c79723cd4c843742fa3c5ca5f6be7262
https://pubmed.ncbi.nlm.nih.gov/1637450
https://pubmed.ncbi.nlm.nih.gov/1637450