Zobrazeno 1 - 10
of 15
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c02d6469bb7ddef096138c2421b0dae6
https://pubmed.ncbi.nlm.nih.gov/35098592
https://pubmed.ncbi.nlm.nih.gov/35098592
Publikováno v:
EMC - Traité de médecine AKOS. 1:1-5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::25ff7c6b1d90c648d45c4737bc9df0f2
https://doi.org/10.1016/s1634-6939(06)75425-4
https://doi.org/10.1016/s1634-6939(06)75425-4
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b8ef5dc2f21c76fa1d0aeeea8d8dee3
https://doi.org/10.1097/00008390-200404000-00014
https://doi.org/10.1097/00008390-200404000-00014
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5cc95f49a225785a5b8e27a3150d4d2
https://doi.org/10.1159/000018146
https://doi.org/10.1159/000018146
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8d07dc5d9e283db4a16be8baf226560
https://doi.org/10.1159/000245948
https://doi.org/10.1159/000245948
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2c4705e278f14d8c8b03c83aa97c82d
https://pubmed.ncbi.nlm.nih.gov/14508685
https://pubmed.ncbi.nlm.nih.gov/14508685
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6150a244d749f149af35f6887e847525
https://pubmed.ncbi.nlm.nih.gov/12588224
https://pubmed.ncbi.nlm.nih.gov/12588224
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f76aec54ffe0d2cec9630ae213dc2b1
https://doi.org/10.1001/archderm.137.11.1421
https://doi.org/10.1001/archderm.137.11.1421
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8218e5730a93ead081f946c66bce76fa
https://doi.org/10.1159/000116622
https://doi.org/10.1159/000116622
Publikováno v:
Archives of Dermatology. 131:1465b-1466
Periungual fibroma is a diagnostic criterion of tuberous sclerosis (TS), with generally no consideration given to the number of fibromas or their location. 1-3 Recently, Roach et al 4 and Kwiakowski and Short 5 stated that periungual fibromas are a s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a2be1998b17ae1803d5fea5ba2a569f
https://doi.org/10.1001/archderm.131.12.1465b
https://doi.org/10.1001/archderm.131.12.1465b