論文 - 秋山 真志
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Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan. 査読有り
Shibata A, Akiyama M
Pediatrics international : official journal of the Japan Pediatric Society 57 巻 ( 4 ) 頁： 516-22 2015年8月
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Porokeratotic eccrine ostial and dermal duct nevus with a somatic homozygous or monoallelic variant of connexin 26. 査読有り
Noda K, Sugiura K, Kono M, Akiyama M
Journal of dermatological science 2015年7月
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Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis. 査読有り
Takeichi T, Sugiura K, Hsu CK, Tanahashi K, Takama H, Simpson MA, McGrath JA, Akiyama M
Journal of dermatological science 2015年7月
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The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis 査読有り
Sugiura K, Arima M, Matsunaga K, Akiyama M
Br J Dermatol 173 巻 ( 1 ) 頁： 309-311 2015年7月
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Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis. 査読有り
Sugiura K, Akiyama M
Journal of dermatological science 79 巻 ( 1 ) 頁： 4-9 2015年7月
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Annular Elastolytic Giant Cell Granuloma Successfully Treated with Minocycline Hydrochloride. 査読有り
Nanbu A, Sugiura K, Kono M, Muro Y, Akiyama M
Acta dermato-venereologica 95 巻 ( 6 ) 頁： 756-7 2015年6月
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Cutaneous Manifestations in Dermatomyositis: Key Clinical and Serological Features-a Comprehensive Review. 査読有り
Muro Y, Sugiura K, Akiyama M
Clinical reviews in allergy & immunology 2015年6月
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Impetigo herpetiformis with IL36RN mutations in a Chinese patient: A founder haplotype of c.115+6T>C in East Asia. 査読有り
Sugiura K, Nakasuka A, Kono H, Kono M, Akiyama M
Journal of dermatological science 2015年6月
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Annular pustular psoriasis with a heterozygous IL36RN mutation. 査読有り
Miyake T, Umemura H, Doi H, Kousogabe J, Tsuji K, Hamada T, Sugiura K, Aoyama Y, Akiyama M, Iwatsuki K
European journal of dermatology : EJD 2015年6月
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Lymphatic flow is mostly preserved after sentinel lymph node biopsy in primary cutaneous malignant melanoma 査読有り
Yokota K, Sawada M, Matsumoto T, Hasegawa Y, Kono M, Akiyama M
J Dermatol Sci 78 巻 ( 2 ) 頁： 101-107 2015年5月
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TRPS1 Haploinsufficiency Results in Increased STAT3 and SOX9 mRNA Expression in Hair Follicles in Trichorhinophalangeal Syndrome. 査読有り
Shibata A, Tanahashi K, Sugiura K, Akiyama M
Acta dermato-venereologica 95 巻 ( 5 ) 頁： 620-1 2015年5月
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Elderly-Onset Generalized Pustular Psoriasis without a Previous History of Psoriasis Vulgaris. 査読有り
Aizu T, Matsui A, Takiyoshi N, Akasaka E, Kaneko T, Nakano H, Sugiura K, Akiyama M, Sawamura D
Case reports in dermatology 7 巻 ( 2 ) 頁： 187-93 2015年5月
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What are the "True" Pathogenic Anti-desmoglein Antibodies? 査読有り
Muro Y, Sugiura K, Akiyama M
Acta dermato-venereologica 2015年4月
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Familial Primary Localized Cutaneous Amyloidosis Results from Either Dominant or Recessive Mutations in OSMR. 査読有り
Wali A, Liu L, Takeichi T, Jelani M, Rahman OU, Heng YK, Thng S, Lee J, Akiyama M, McGrath JA, Betz RC
Acta dermato-venereologica 2015年3月
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Anti-PM/Scl antibodies are found in Japanese patients with various systemic autoimmune conditions besides myositis and scleroderma. 査読有り
Muro Y, Hosono Y, Sugiura K, Ogawa Y, Mimori T, Akiyama M
Arthritis research & therapy 17 巻 頁： 57 2015年3月
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DNA mismatch repair enzymes: genetic defects and autoimmunity. 査読有り
Muro Y, Sugiura K, Mimori T, Akiyama M
Clinica chimica acta; international journal of clinical chemistry 442 巻 頁： 102-9 2015年3月
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Acute generalized exanthematous pustulosis caused by dihydrocodeine phosphate in a patient with psoriasis vulgaris and a heterozygous IL36RN mutation. 査読有り
Nakai N, Sugiura K, Akiyama M, Katoh N
JAMA dermatology 151 巻 ( 3 ) 頁： 311-5 2015年3月
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Darier's disease: a novel ATP2A2 missense mutation at one of the calcium-binding residues. 査読有り
Kaibuchi-Noda K, Sugiura K, Takeichi T, Miura S, Kagami S, Takama H, Hino H, Akiyama M
Acta dermato-venereologica 95 巻 ( 3 ) 頁： 362-3 2015年3月
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Large epidermal cleft formation in verrucous-keratotic malignant melanoma of the heel. 査読有り
Matsumoto T, Yokota K, Sawada M, Hasegawa Y, Takeuchi A, Kono M, Akiyama M
Journal of the American Academy of Dermatology 72 巻 ( 1 ) 頁： e37-8 2015年1月
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Childhood-onset PsA in Down syndrome with psoriasis susceptibility variant CARD14 rs11652075. 査読有り
Sugiura K, Kitoh T, Watanabe D, Muto M, Akiyama M
Rheumatology (Oxford, England) 54 巻 ( 1 ) 頁： 197-9 2015年1月