Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Michihito NIIMURA"'
Autor:
Keiji Moriyama, Chiharu Torii, Koichiro Higasa, Hideyuki Saya, Atsushi Shimizu, Katsumi Tanito, Ryo Maruoka, Kumiko Misu, Yuichi Yoshida, Kenjiro Kosaki, Fujio Otsuka, Fumihiko Matsuda, Toshiki Takenouchi, Michihito Niimura, Akira Kuramochi, Arihito Ota, Yoshimi Arima
Publikováno v:
Genetic Testing and Molecular Biomarkers. 18:722-735
Aims: We assessed the validity of a next-generation sequencing protocol using in-solution hybridization-based enrichment to identify NF1 mutations for the diagnosis of 86 patients with a prototypic genetic syndrome, neurofibromatosis type 1. In addit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f489e1ea380db2982243867c91365883
https://doi.org/10.1089/gtmb.2014.0109
https://doi.org/10.1089/gtmb.2014.0109
Autor:
Caisa M. Hansson, Hajnalka Kiss, D. Gareth Evans, Jan P. Dumanski, Gintautas Grigelionis, Patrick G. Buckley, Guy A. Rouleau, Kiran Kumar Mantripragada, Markku Sainio, Andrew J Wallace, Teresita Díaz de Ståhl, Magnus Nordenskjöld, Ingemar Ernberg, Uwe Menzel, Michihito Niimura, Arkadiusz Piotrowski, Lars Bolund, David Vetrie
Publikováno v:
Buckley, P G, Mantripragada, K K, Díaz de Ståhl, T, Piotrowski, A, Hansson, C M, Kiss, H, Vetrie, D, Ernberg, I T, Nordenskjöld, M, Bolund, L, Sainio, M, Rouleau, G A, Niimura, M, Wallace, A J, Evans, D G R, Grigelionis, G, Menzel, U & Dumanski, J P 2005, ' Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2 ' Human Mutation, vol. 26, no. 6, pp. 540-9 . https://doi.org/10.1002/humu.20255
Schwannomatosis is characterized by multiple peripheral and cranial nerve schwannomas that occur in the absence of bilateral 8th cranial nerve schwannomas. The latter is the main diagnostic criterion of neurofibromatosis type 2 (NF2), which is a rela
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85493468f869a7b63b1b6108ebfe9edd
https://doi.org/10.1002/humu.20255
https://doi.org/10.1002/humu.20255
Publikováno v:
Cancer Letters. 213:49-55
Vaccination of fusion cells (FCs) made from dendritic and tumor cells elicits anti-tumor effects. We investigated whether major histocompatibility complex (MHC) class I and II play an important role in the induction of anti-tumor immunity by FCs. Imm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::529bc74fab55c0a5d66feba0276c5fb4
https://doi.org/10.1016/j.canlet.2004.04.010
https://doi.org/10.1016/j.canlet.2004.04.010
Publikováno v:
British Journal of Dermatology. 149:405-409
Summary Galactosialidosis is a lysosomal storage disease associated with a combined deficiency of β-galactosidase and neuraminidase, caused by a defect of another lysosomal protein, the protective protein. Three subtypes are recognized: the early in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::844ead27ac7983f6d0b19aef457f2e5b
https://doi.org/10.1046/j.1365-2133.2003.05488.x
https://doi.org/10.1046/j.1365-2133.2003.05488.x
Publikováno v:
The Journal of Dermatology. 30:389-394
We report a patient who developed Bowen's disease of the finger and bowenoid papulosis of the perianal area after cardiac transplantation. Human papillomavirus (HPV) type 16 only, not any skin-related or epidermodysplasia verruciformis-related types,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7a46a1ffd142f126b3d46a9c8d8b066
https://doi.org/10.1111/j.1346-8138.2003.tb00404.x
https://doi.org/10.1111/j.1346-8138.2003.tb00404.x
Autor:
Yoshimasa Nobeyama, H. Yonemoto, Ryoichi Kamide, H. Tanaka, Koichi Yanaba, Michihito Niimura, M. Ito, Takaoki Ishiji, M. Inoue, H. Sasaki
Publikováno v:
British Journal of Dermatology. 147:1249-1253
We report a case of febrile ulceronecrotic Mucha-Habermann disease (FUMHD) in a 21-year-old man. This disease is a severe form of pityriasis lichenoides et varioliformis acuta (PLEVA) and is characterized by the sudden onset of diffuse ulcerations as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2180f5f575bb4e527b7d55fe6e1f13ca
https://doi.org/10.1046/j.1365-2133.2002.05039.x
https://doi.org/10.1046/j.1365-2133.2002.05039.x
Autor:
Jonathan A. Fletcher, Minh Thu N Hang, Cheryl M. Coffin, Michael A. Liew, Michihito Niimura, David Viskochil, Katsumi Tanito
Publikováno v:
Pediatric and Developmental Pathology. 5:165-169
Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder that is caused by a mutation in the NF1 gene. Hallmark characteristics include dermal neurofibromas, café-au-lait spots, and learning disabilities. In approximately 25% o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dddd1fefacba762406d13d4691727786
https://doi.org/10.1007/s10024001-0126-y
https://doi.org/10.1007/s10024001-0126-y
Publikováno v:
British Journal of Dermatology. 144:305-309
Background The amount of nocturnal scratching can be an indirect correlate of itch in pruritic dermatoses. We have previously used an infrared video camera to measure nocturnal scratching in atopic dermatitis (AD). Although this is a reliable method
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d2facf64dd7ab74f0153c5bdbea2390
https://doi.org/10.1046/j.1365-2133.2001.04019.x
https://doi.org/10.1046/j.1365-2133.2001.04019.x
Publikováno v:
International Journal of Dermatology. 40:37-40
Background The epidemiology of cutaneous lymphomas revealed that the incidence of lymphomas differed depending on various factors including area, race, and sex, among others. Objective This study was undertaken to analyse the incidence of cutaneous l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::139041b7a79d1c3962313da1a791a359
https://doi.org/10.1046/j.1365-4362.2001.00160.x
https://doi.org/10.1046/j.1365-4362.2001.00160.x
Autor:
Tetsutaro Sata, Takaoki Ishiji, Mariko Honda, Toshihiko Matsukura, Michihito Niimura, E. Yoshimura, Masaaki Kawase
Publikováno v:
British Journal of Dermatology. 143:1005-1010
Background Epidermodysplasia verruciformis (EV) is a rare skin disease characterized by disseminated pityriasis versicolor-like or flat wart-like lesions and by the development of skin carcinomas. It is well established that specific cutaneous human
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31dcfbfa3f7c99d93fff522c5566384a
https://doi.org/10.1046/j.1365-2133.2000.03834.x
https://doi.org/10.1046/j.1365-2133.2000.03834.x