1 - 49 of about 49
Effects of Muse Cell on a Mouse Model With Acute Encephalopathy , Kawaguchi T, Mori T, Adachi K, Fujii J, Maegaki Y, Obata F , Brain Behav , vol.15 (1) (p.e70242 - ) , 2025.01 , There is Review , The Multiple Authorship , English
Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing , Hijikata A, Suyama M, Kikugawa S, Matoba R, Naruto T, Enomoto Y, Kurosawa K, Harada N, Yanagi K, Kaname T, Miyako K, Takazawa M, Sasai H, Hosokawa J, Itoga S, Yamaguchi T, Kosho T, Matsubara K, Kuroki Y, Fukami M, Adachi K, Nanba E, Tsuchida N, Uchiyama Y, Matsumoto N, Nishimura K, Ohara O , Nucleic Acids Res , vol.52 (1) (p.114 - 124) , 2024.01 , There is Review , The Multiple Authorship , English
Mastocytosis in a Case of Noonan Syndrome Caused by a De Novo Pathogenic CBL Variant , Kawaguchi T, Okanishi T, Okazaki T, Aoki C, Kasagi N, Adachi K, Yoshida Y, Miyake N, Matsumoto N, Maegaki Y , Yonago Acta Med , vol.66 (4) (p.463 - 466) , 2023.10 , There is Review , The Multiple Authorship , English
Association of IL-4 with pachychoroid neovasculopathy , Baba T, Koyama A, Uotani R, Miyake H, Inata K, Sasaki SI, Shimizu Y, Inoue Y, Adachi K, Nanba E, Miyazaki D , Sci Rep , vol.13 (1) (p.1152 - ) , 2023.01 , There is Review , The Multiple Authorship , English
Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion , Okazaki T, Kawaguchi T, Saiki Y, Aoki C, Kasagi N, Adachi K, Saida K, Matsumoto N, Nanba E, Maegaki Y , Hum Genome Var , vol.9 (1) (p.14) , 2022.05 , There is Review , The Multiple Authorship , English
Online questionnaire on genetic testing for intractable diseases in Japan: response to and issues associated with the revised medical care act , Adachi K, Satou K, Nanba E , J Hum Genet , vol.66 (11) (p.1043 - 1051) , 2021.11 , There is Review , The Multiple Authorship , English
Reply to the letter: "A case of infantile Tay-Sachs disease with late onset spasms" , Yamamoto N, Kuki I, Nagase S, Inoue T, Nukui M, Okazaki S, Furuichi Y, Adachi K, Nanba E, Sakai N, Kawawaki H , Brain Dev , vol.43 (9) (p.977 - 978) , 2021.10 , There is Review , The Multiple Authorship , English
Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant , Okazaki T, Yamada H, Matsuura K, Kasagi N, Miyake N, Matsumoto N, Adachi K, Nanba E, Maegaki Y , Hum Genome Var , vol.8 (1) (p.26) , 2021.07 , There is Review , The Multiple Authorship , English
A case of infantile Tay-Sachs disease with late onset spasms , Yamamoto N, Kuki I, Nagase S, Inoue T, Nukui M, Okazaki S, Furuichi Y, Adachi K, Nanba E, Sakai N, Kawawaki H , Brain Dev , vol.43 (5) (p.661 - 665) , 2021.05 , There is Review , The Multiple Authorship , English
Isolated cortical tuber in an infant with genetically confirmed tuberous sclerosis complex 1 presenting with symptomatic West syndrome , Miyata H, Fushimi S, Ota Y, Vinters HV, Adachi K, Nanba E, Akiyama T , Neuropathology , vol.41 (1) (p.58 - 64) , 2021.02 , There is Review , The Multiple Authorship , English
Cord Blood from SGA Preterm Infants Exhibits Increased GLUT4 mRNA Expression , Narai S, Kawashima-Sonoyama Y, Fujimoto M, Miura M, Adachi K, Nanba E, Namba N , Yonago Acta Med , vol.64 (1) (p.57 - 66) , 2021.01 , There is Review , The Multiple Authorship , English
Establishment of FXS-A9 panel with a single human X chromosome from fragile X syndrome-associated individual , Nakayama Y, Adachi K, Shioda N, Maeta S, Nanba E, Kugoh H , Exp Cell Res , vol.398 (2) (p.112419 - ) , 2021.01 , There is Review , The Multiple Authorship , English
CGG repeat RNA G-quadruplexes interact with FMRpolyG to cause neuronal dysfunction in fragile X-related tremor/ataxia syndrome , Asamitsu S, Yabuki Y, Ikenoshita S, Kawakubo K, Kawasaki M, Usuki S, Nakayama Y, Adachi K, Kugoh H, Ishii K, Matsuura T, Nanba E, Sugiyama H, Fukunaga K, Shioda N , Sci Adv , vol.7 (3) (p.eabd9440 - ) , 2021.01 , There is Review , The Multiple Authorship , English
Clinical Characteristics of Fragile X Syndrome Patients in Japan , Okazaki T, Adachi K, Matsuura K, Oyama Y, Nose M, Shirahata E, Abe T, Hasegawa T, Maihara T, Maegaki Y, Nanba E , Yonago Acta Med , vol.64 (1) (p.30 - 33) , 2021.01 , There is Review , The Multiple Authorship , English
Gallbladder cancer with ascites in a child with metachromatic leukodystrophy , Koshu K, Ikeda T, Tamura D, Muramatsu K, Osaka H, Ono S, Adachi K, Nanba E, Nakajima T, Yamagata T , Brain Dev , vol.43 (1) (p.140 - 143) , 2021.01 , There is Review , The Multiple Authorship , English
An autopsy case of GM1 gangliosidosis type II in a patient who survived a long duration with artificial respiratory support , Uchino A, Nagai M, Kanazawa N, Ichinoe M, Yanagisawa N, Adachi K, Nanba E, Ishiura H, Mitsui J, Tsuji S, Suzuki K, Murayama S, Nishiyama K , Neuropathology , vol.40 (4) (p.379 - 388) , 2020.08 , There is Review , The Multiple Authorship , English
Duchenne muscular dystrophy-like phenotype in an LGMD2I patient with novel FKRP gene variants , Okazaki T, Matsuura K, Kasagi N, Adachi K, Kai M, Okubo M, Nishino I, Nanba E, Maegaki Y , Hum Genome Var , vol.7 (p.12 - ) , 2020.04 , There is Review , The Multiple Authorship , English
Comparison of Causative Variant Prioritization Tools Using Next-generation Sequencing Data in Japanese Patients with Mendelian Disorders , Ebiki M, Okazaki T, Kai M, Adachi K, Nanba E , Yonago Acta Med , vol.62 (3) (p.244 - 252) , 2019.09 , There is Review , The Multiple Authorship , English
A new heterozygous compound mutation in the CTSA gene in galactosialidosis , Nakajima H, Ueno M, Adachi K, Nanba E, Narita A, Tsukimoto J, Itoh K, Kawakami A , Hum Genome Var , vol.6 (p.22) , 2019.04 , There is Review , The Multiple Authorship , English
Recurrent Erythema Nodosum in a Child with a SHOC2 Gene Mutation , Okazaki T, Saito Y, Sugita K, Nosaka K, Ohno K, Hiraoka Y, Kasagi N, Ebiki M, Narai S, Kawashima Y, Takano S, Kai M, Adachi K, Yamamoto O, Nanba E, Maegaki Y , Yonago Acta Med , vol.62 (1) (p.159 - 162) , 2019.03 , There is Review , The Multiple Authorship , English
Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations , Okazaki T, Saito Y, Hayashida T, Akaboshi S, Miyake N, Matsumoto N, Kasagi N, Adachi K, Shinohara Y, Nanba E, Maegaki Y , Clin Genet , vol.94 (3-4) (p.391 - 392) , 2018.10 , There is Review , The Multiple Authorship , English
Acute localized exanthematous pustulosis caused by a herbal medicine, dai-kenchu-to , Tsutsumi R, Yoshida Y, Adachi K, Nanba E, Yamamoto O , Contact Dermatitis , vol.79 (4) (p.257 - 259) , 2018.10 , There is Review , The Multiple Authorship , English
Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report , Kawazoe T, Yamamoto T, Narita A, Ohno K, Adachi K, Nanba E, Noguchi A, Takahashi T, Maekawa M, Eto Y, Ogawa M, Murata M, Takahashi Y , BMC Neurol , vol.18 (1) (p.117) , 2018.08 , There is Review , The Multiple Authorship , English
A novel mutation causing type 1 Gaucher disease found in a Japanese patient with gastric cancer: A case report , Hosoba S, Kito K, Teramoto Y, Adachi K, Nakanishi R, Asai A, Iwasa M, Nishimura R, Moritani S, Kawahara M, Minamiguchi H, Nanba E, Kushima R, Andoh A , Medicine (Baltimore) , vol.97 (27) (p.e11361 - ) , 2018.07 , There is Review , The Multiple Authorship , English
Neurodevelopmental disorders in children with macrocephaly: A prevalence study and PTEN gene analysis , Kurata H, Shirai K, Saito Y, Okazaki T, Ohno K, Oguri M, Adachi K, Nanba E, Maegaki Y , Brain Dev , vol.40 (1) (p.36 - 41) , 2018.01 , There is Review , The Multiple Authorship , English
Miglustat therapy in a case of early-infantile Niemann-Pick type C , Usui M, Miyauchi A, Nakano Y, Nakamura S, Jimbo E, Itamura S, Adachi K, Nanba E, Narita A, Yamagata T, Osaka H , Brain Dev , vol.39 (10) (p.886 - 890) , 2017.11 , There is Review , The Multiple Authorship , English
Increased IRS2 mRNA Expression in SGA Neonates: PCR Analysis of Insulin/IGF Signaling in Cord Blood , Fujimoto M, Sonoyama YK, Fukushima K, Imamoto A, Miyahara F, Miyahara N, Nishimura R, Yamada Y, Miura M, Adachi K, Nanba E, Hanaki K, Kanzaki S , J Endocr Soc , vol.1 (12) (p.1408 - 1416) , 2017.10 , There is Review , The Multiple Authorship , English
Pharmacoresistant epileptic eyelid twitching in a child with a mutation in SYNGAP1 , Okazaki T, Saito Y, Hiraiwa R, Saitoh S, Kai M, Adachi K, Nishimura Y, Nanba E, Maegaki Y , Epileptic Disord , vol.19 (3) (p.339 - 344) , 2017.09 , There is Review , The Multiple Authorship , English
Nagashima-type palmoplantar keratosis with melanoma: absence of epidermal Langerhans cells in hyperkeratotic skin , Tsutsumi R, Yoshida Y, Yamada N, Adachi K, Nanba E, Yamamoto O , Eur J Dermatol , vol.27 (2) (p.210 - 212) , 2017.04 , There is Review , The Multiple Authorship , English
A novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis , Izumi H, Kurai J, Kodani M, Watanabe M, Yamamoto A, Nanba E, Adachi K, Igishi T, Shimizu E , Hum Genome Var , 2017.01 , There is Review , The Multiple Authorship , English
Epileptic phenotype of FGFR3-related bilateral medial temporal lobe dysgenesis , Okazaki T, Saito Y, Ueda R, Awashima T, Nishimura Y, Yuasa I, Shinohara Y, Adachi K, Sasaki M, Nanba E, Maegaki Y , Brain Dev , 2017.01 , There is Review , The Multiple Authorship , English
Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/beta , Shibazaki T, Hirabayashi K, Saito S, Shigemura T, Nakazawa Y, Sakashita K, Takagi M, Shiohara M, Adachi K, Nanba E, Sakai N, Koike K , Am J Med Genet A , vol.170 (5) (p.1278 - 1282) , 2016.05 , There is Review , The Multiple Authorship , English
A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1 , Yoshida Y, Doi R, Adachi K, Nanba E, Kodani I, Ryoke K , Hum Genome Var , vol.3 (p.16005) , 2016.03 , There is Review , The Multiple Authorship , English
Clinical Diagnosis of Mendelian Disorders Using a Comprehensive Gene-Targeted Panel Test for Next-Generation Sequencing , Okazaki T, Murata M, Kai M, Adachi K, Nakagawa N, Kasagi N, Matsumura W, Maegaki Y, Nanba E , Yonago Acta Med , 2016.01 , There is Review , The Multiple Authorship , English
Oxytocin for Male Subjects with Autism Spectrum Disorder and Comorbid Intellectual Disabilities: A Randomized Pilot Study , Munesue T, Nakamura H, Kikuchi M, Miura Y, Takeuchi N, Anme T, Nanba E, Adachi K, Tsubouchi K, Sai Y, Miyamoto K, Horike S, Yokoyama S, Nakatani H, Niida Y, Kosaka H, Minabe Y, Higashida H , Front Psychiatry , vol.7 (p.2) , 2016.01 , There is Review , The Multiple Authorship , English
Heterozygous nonsense mutations near the C-terminal region of IGF1R in two patients with small-for-gestational-age-related short stature , Fujimoto M, Kawashima Sonoyama Y, Hamajima N, Hamajima T, Kumura Y, Miyahara N, Nishimura R, Adachi K, Nanba E, Hanaki K, Kanzaki S , Clin Endocrinol (Oxf) , vol.83 (6) (p.834 - 841) , 2015 , There is Review , The Multiple Authorship , English
Expansion of genetic testing in the division of functional genomics, research center for bioscience and technology, tottori university from 2000 to 2013 , Adachi K , Yonago Acta Med , vol.57 (1) (p.37 - 43) , 2014.03 , There is Review , The Simple Work , English
Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: an autopsy case , Chiba Y, Komori H, Takei S, Hasegawa-Ishii S, Kawamura N, Adachi K, Nanba E, Hosokawa M, Enokido Y, Kouchi Z, Yoshida F, Shimada A , Neuropathology , vol.34 (1) (p.49 - 57) , 2014.02 , There is Review , The Multiple Authorship , English
Clinical and serial MRI findings of a sialidosis type I patient with a novel missense mutation in the NEU1 gene , Sekijima Y, Nakamura K, Kishida D, Narita A, Adachi K, Ohno K, Nanba E, Ikeda S , Internal medicine , vol.52 (1) (p.119 - 124) , 2013 , There is Review , The Multiple Authorship , English
A novel mutation of the GAA gene in a patient with adult-onset Pompe disease lacking a disease-specific pathology , Fujimoto S, Manabe Y, Fujii D, Kozai Y, Matsuzono K, Takahashi Y, Narai H, Omori N, Adachi K, Nanba E, Nishino I, Abe K , Internal medicine , vol.52 (21) (p.2461 - 2164) , 2013 , There is Review , The Multiple Authorship , English
Association of Merkel cell polyomavirus infection with clinicopathological differences in Merkel cell carcinoma , Higaki-Mori H, Kuwamoto S, Iwasaki T, Kato M, Murakami I, Nagata K, Sano H, Horie Y, Yoshida Y, Yamamoto O, Adachi K, Nanba E, Hayashi K. , Human Pathology , vol.43 (12) (p.2282 - 2291) , 2012.12 , There is Review , The Multiple Authorship , English
Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C , Xiong H, Higaki K, Wei CJ, Bao XH, Zhang YH, Fu N, Qin J, Adachi K, Kumura Y, Ninomiya H, Nanba E, Wu XR , Gene , vol.498 (2) (p.332 - 335) , 2012.05 , There is Review , The Multiple Authorship , English
Lack of AKT activation in lung cancer cells with EGFR mutation is a novel marker of cetuximab sensitivity , Takata M, Chikumi H, Miyake N, Adachi K, Kanamori Y, Yamasaki A, Igishi T, Burioka N, Nanba E, Shimizu E , Cancer biology & therapy , vol.13 (6) (p.369 - 378) , 2012.04 , There is Review , The Multiple Authorship , English
Impairment of ubiquitin-proteasome system by E334K cMyBPC modifies channel proteins, leading to electrophysiological dysfunction , Bahrudin U, Morikawa K, Takeuchi A, Kurata Y, Miake J, Mizuta E, Adachi K, Higaki K, Yamamoto Y, Shirayoshi Y, Yoshida A, Kato M, Yamamoto K, Nanba E, Morisaki H, Morisaki T, Matsuoka S, Ninomiya H, Hisatome I , Journal of molecular biology , vol.413 (4) (p.857 - 878) , 2011.11 , There is Review , The Multiple Authorship , English
Gastric adenocarcinoma with rhabdoid morphology , Shomori K, Sugamura K, Adachi K, Shiomi T, Nanba E, Ito H , Gastric cancer , vol.14 (3) (p.290 - 294) , 2011.08 , There is Review , The Multiple Authorship , English
Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency , Higaki K, Li L, Bahrudin U, Okuzawa S, Takamuram A, Yamamoto K, Adachi K, Paraguison RC, Takai T, Ikehata H, Tominaga L, Hisatome I, Iida M, Ogawa S, Matsuda J, Ninomiya H, Sakakibara Y, Ohno K, Suzuki Y, Nanba E , Human mutation , vol.32 (7) (p.843 - 852) , 2011.07 , There is Review , The Multiple Authorship , English
Novel mutations in the gene encoding acid α-1,4-glucosidase in a patient with late-onset glycogen storage disease type II (Pompe disease) with impaired intelligence , Muraoka T, Murao K, Imachi H, Kikuchi F, Yoshimoto T, Iwama H, Hosokawa H, Nishino I, Fukuda T, Sugie H, Adachi K, Nanba E, Ishida T , Internal medicine , vol.50 (24) (p.2987 - 2991) , 2011 , There is Review , The Multiple Authorship , English
Multiple subcutaneous hard nodules , Watanabe T, Yoshida Y, Adachi K, Nanba E, Yamamoto O , Clinical and experimental dermatology , vol.35 (6) (p.681 - 682) , 2010.08 , There is Review , The Multiple Authorship , English
A Japanese case of Fragile-X-associated tremor/ataxia syndrome (FXTAS) , Ishii K, Hosaka A, Adachi K, Nanba E, Tamaoka A , Internal medicine , vol.49 (12) (p.1205 - 1208) , 2010 , There is Review , The Multiple Authorship , English
Page: [<<PREV] [1] [NEXT>>]