Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Jacques, Zeller"'
Autor:
C, Bergqvist, L, Fertitta, K, Ezzedine, A, Jannic, O, Zehou, S, Ferkal, P, Combemale, S, Barbarot, J, Mazereeuw-Hautier, E, Sbidian, P, Wolkenstein, Jacques, Zeller
Publikováno v:
Journal of the European Academy of Dermatology and Venereology : JEADVReferences. 36(5)
Neurofibromatosis 1 (NF1) is one of the most common inherited disorders characterized by mutations in the tumour suppressor gene NF1. Its clinical manifestations are highly variable and unpredictable. A specific NF1 mutation does not predict the seve
Publikováno v:
EMC - Traité de médecine AKOS. 1:1-5
Publikováno v:
EMC - Pédiatrie - Maladies infectieuses. 1:1-10
Autor:
Bernard Guillot, Michèle Delaunay, Jacqueline Chevrant-Breton, Jacques Zeller, Pierre Wolkenstein, Christophe Bedane, Michel Baccard, Philippe Bernard, Olivier Dereure, Bruno Sassolas, Laurent Machet, Sophie Dalac
Publikováno v:
Melanoma Research. 14:159-163
Neurofibromatosis 1 (NF1) is a genetically transmitted disease occurring approximately once in 3000 live births and resulting from mutations of the NF1 gene that encodes a protein named neurofibromin, a negative regulator of the ras-dependent pathway
Publikováno v:
Dermatology. 198:346-350
Background: Acquired cutis laxa is a rare disease characterized by sagging skin, premature wrinkling and reduced skin elasticity. Observation: We report a 21-year-old woman, who presented with acquired cutis laxa on the face and the ear lobes. Urtica
Publikováno v:
Dermatology. 195:228-231
Schwannomatosis includes multiple cutaneous schwannomas, central nervous system tumors and various neurologic deficits.To specify the clinical presentation of schwannomatosis, excluding neurofibromatosis type 2 (NF2).Patients with at least 2 cutaneou
Autor:
Jacques Zeller, Marie-Catherine Voisin, Pierre Wolkenstein, Laurent Lantieri, Janine Wechsler, Nadine Martin-Garcia
Publikováno v:
Virchows Archiv : an international journal of pathology. 443(6)
Neurofibromas and schwannomas express S100 protein, while axon filaments are not commonly found in schwannomas. Histopathological distinction between neurofibromas and schwannomas is usually easy, except for some variants. To assess the reliability o
Publikováno v:
Archives of dermatology. 139(2)
Objective: To identify the main clinical features associated with mortality in patients with neurofibromatosis 1. Design: Cohort study. Setting: Referral center for neurofibromatosis. Patients: Three hundred seventy-eight patients with neurofibromato
Publikováno v:
Archives of Dermatology. 137
Background Neurofibromatosis type 1 affects quality of life (QoL) through association with severe complications, impact on cosmetic features, and uncertainty of the effects of the disorder. Objective To evaluate the impact of the severity and visibil
Autor:
Jean Revuz, Sylvie Bastuji-Garin, Pierre Wolkenstein, Jacques Zeller, Kiarash Khosrotehrani, S. Abecassis
Publikováno v:
Dermatology. 216:347-348
Neurofibromatosis 1 (NF1) is a common genetic disease with an incidence of about 1 in 2,500, an autosomal dominant mode of inheritance and a high rate of new mutations. Two striking aspects of NF1 are its progression with age and its extreme variabil