■ 学術雑誌
|
原著
|
|
1.
|
Iwama K,Mizuguchi T, Takanashi J, Shibayama H, Shichiji M, Ito S, Oguni H, Yamamoto T, Sekine A, Nagamine S, Ikeda Y, Nishida H, Kumada S, Yoshida T, Awaya T, Tanaka R, Chikuchi R, Niwa H, Oka Y, Miyatake S, Nakashima M, Takata A, Miyake N, Ito S, Saitsu H, Matsumoto N：
Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.
Clinical Genetics
92
(2)
：180-187
, 2017.3
DOI:10.1111/cge.12991
|
|
2.
|
Yamamoto T, Shimojima K, Ondo Y, Shimakawa S, Okamoto N.：
MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.
American Journal of Medical Genetics. Part A
173A
(5)
：1264-1269
, 2017.3
DOI:10.1002/ajmg.a.38168
|
|
3.
|
Alber M, Kalscheuer VM, Marco E, Sherr EH, Lesca G, Till M, Gradek G, Wiesener A, Korenke CG, Mecier S, Becker F, Yamamoto T, Scherer SW, Marshall C, Walker S, Dutta U, Dalal A, Suckow V, Jamali P, Kahrizi K, Najmabadi H, Minassian BA.：
The ARHGEF9 Disease: Phenotype Clarification and Genotype-Phenotype Correlation.
Neurology Genetics
3
：e148
, 2017.3
DOI:10.1212/NXG.0000000000000148
|
|
4.
|
Shimojima K, Narai S, Togawa M, Doumoto T, Sangu N, Vanakkere OM, De Paepee A, Edwards M, Whitehall J, Brescianini S, Petit F, Andrieux J, Yamamoto T.：
7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.
European Journal of Medical Genetics
59
(10)
：502-506
, 2016.10
DOI:10.1016/j.ejmg.2016.09.008
|
|
5.
|
Shimojima K, Maruyama K, Kikuchi M, Imai A, Inoue K, Yamamoto T.：
Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome.
Intractable Rare Disease Research
5
(3)
：214-217
, 2016.8
DOI:10.5582/irdr.2016.01051
|
|
6.
|
Sumida K, Inoue K, Takanashi J, Sasaki M, Watanabe K, Suzuki M, Kurahashi H, Omata T, Tanaka M, Yokochi K, Iio J, Iyoda K, Kurokawa T, Matsuo M, Sato T, Iwaki A, Osaka H, Kurosawa K, Yamamoto T, Matsumoto N, Maikusa N, Matsuda H, Sato N.：
The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients.
Brain & Development
38
：571-580
, 2016.6
DOI:10.1016/j.braindev.2015.12.007
|
|
7.
|
Yoshimoto Satomi, Harahap Nur Imma Fatimah, Hamamura Yuko, Ar Rochmah Mawaddah, Shima Ai, Morisada Naoya, Shinohara Masakazu, Saito Toshio, Saito Kayoko, Lai Poh San, Matsuo Masafumi, Awano Hiroyuki, Morioka Ichiro, Iijima Kazumoto, Nishio Hisahide：
Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2.
Human genome variation
3
：16040
, 2016
DOI:10.1038/hgv.2016.40
|
|
8.
|
saito kayoko：
Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.
J Hum Genet
(61)
：931-942
, 2016
|
|
9.
|
Arakawa R, Arakawa M, Kaneko K, Otsuki N, Aoki R, Saito K.：
Imaging flow cytometry analysis to identify differences of survival motor neuron protein expression in patients with spinal muscular atrophy.
Pediatric Neurology
61
：70-75
, 2016
DOI:10.1016/j.pediatrneurol.2016.05.009.
|
|
10.
|
Arakawa R, Arakawa M, Kaneko K, Otsuki N, Aoki R, Saito K：
Imaging flow cytometry analysis to identify differences of SMN protein expression in spinal muscular atrophy patients.
Pediatric neurology
(30149)
：7--
, 2016
|
|
5件表示
|
|
全件表示(10件)
|
|
総説及び解説
|
|
1.
|
斎藤 加代子†, 北村 裕梨, 近藤 恵里, 青木 亮子：
【小児疾患診療のための病態生理 3 改訂第5版】筋疾患 筋疾患と遺伝学的検査.
小児内科
48
(増刊)
：454-462
, 2016.11
|
|
症例報告
|
|
1.
|
Murakoshi M, Takasawa K, Nishioka M, Asakawa M, Kashimada K, Yoshimoto T, Yamamoto T, Takekoshi K, Ogawa Y, Shimohira M.：
Abdominal paraganglioma in a young woman with 1p36 deletion syndrome.
American Journal of Medical Genetics. Part A
173A
(2)
：495-500
, 2017.2
DOI:10.1002/ajmg.a.38020
|
|
2.
|
Matsuo M, Yamauchi A, Ito Y, Sakauchi M, Yamamoto T, Okamoto N, Tsurusaki Y, Miyake N, Matsumoto N, Saito K.：
Mandibulofacial dysostosis with microcephaly: A case presenting with seizures.
Brain & Development
39
(2)
：177-181
, 2017.2
DOI:10.1016/j.braindev.2016.08.008
|
|
3.
|
Okamoto N, Kimura S, Shimojima K, Yamamoto T：
Neurological manifestations of 2q31 microdeletion syndrome.
Congenital Anomalies
57
(6)
：197-200
, 2017.2
DOI:https://doi.org/10.1111/cga.12212
|
|
4.
|
Sangu N, Shimojima K, Takahashi Y, Ohashi T, Tohyama J, Yamamoto T.：
A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism.
Human Genome Variation
4
：17001
, 2017.2
DOI:10.1038/hgv.2017.1
|
|
5.
|
四家達彦, 高橋幸利, 木村暢佑, 今井克美, 山下行雄, 山本俊至, 高橋孝雄.：
治療戦略の変更によりADLを改善し得たCDKL5異常症による難治性てんかんの女児例.
脳と発達
49
(1)
：28-31
, 2017.1
|
|
6.
|
Shimojima K, Ondo Y, Matsufuji M, Sano N, Tsuru H, Oyoshi T, Higa N, Tokimura H, Arita K, Yamamoto T.：
Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis.
European Journal of Medical Genetics
59
(11)
：559-563
, 2016.10
DOI:10.1016/j.ejmg.2016.10.006
|
|
7.
|
Yamamoto T, Shimojima K, Matsufuji M, Mashima R, Sakai E, Okuyama T.：
Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan.
Brain & Development
39
(5)
：422-425
, 2016.5
DOI:10.1016/j.braindev.2016.12.004
|
|
5件表示
|
|
全件表示(7件)
|
|
ページの先頭へ
|
|
■ 学会発表
|
1.
|
◎SEKIGUCHI Haruki, SATO Kayoko, KANNO Hitoshi, YAMAMOTO Toshiyuki, HAGIWARA Nobuhisa：
Rapid Resolution of Tendon Xanthomas in Elder Heterozygous Familial Hyperchorestelemia Treated With Evolocumab.
ACC. 2017, 66th Annual Scientific Session & Expo,
WASHINGTON, D.C. USA,
2017/03
|
|
2.
|
Kaneko K, Arakawa R, Saito K：
Natural history of motor function changes in childhood-onset spinal muscular atrophy.
The 13th International Congress of Human Genetics,
Kyoto,
2016/04
|
|
3.
|
Kitamura Y, Kondo E, Urano M, Aoki R, Saito K：
Target resequencing of neuromuscular disease-relared genes using next-generation sequencing for atients with undiagnosed early-onset neuromuscular disorders.
The 13th International Congress of Human Genetics,
Kyoto,
2016/04
|
|
4.
|
◎岡田みどり, 中村裕子, 佐藤梓, 岡谷理恵子, 吉田珠子, 内田啓子, 齋藤加代子：
女子中高生の医療系進路選択を支援する取り組みにおける病院見学プログラム.
日本薬学会 第137年会,
仙台、日本,
2017/03
|
|
5.
|
◎岡田みどり, 大久保由美子, 木下順二, 齋藤加代子, 木村利美：
医学部学生と薬学部学生が共に学ぶ薬害教育の効果.
第 48回日本医学教育学会大会,
大阪,
2016/07
|
|
6.
|
◎上村真央, 宇賀美杉, 稲垣彩音, 矢野由香子, 柳田かおり, 中尾千恵, 岡田みどり, 矢口有乃, 齋藤加代子：
女子医大生の指導による医療的手技、救急蘇生法体験が女子中高生の理系進路、医療系職業選択に与える影響.
第48回医学教育学会大会,
大阪,
2016/07
|
|
7.
|
◎長谷川三希子, 鈴木隼人, 内尾優, 川田友子, 加島広太, 猪飼哲夫, 齋藤加代子, 荒川玲子：
小児期発症脊髄性筋萎縮症Ⅱ型の運動の特徴について-運動機能評価尺度CHOP INTENDとHFMSEを用いての検討-.
第51回日本理学療法学術大会,
北海道,
2016/05
|
|
8.
|
◎鈴木隼人, 長谷川三希子, 内尾優, 川田友子, 加島広太, 猪飼哲夫, 齋藤加代子, 荒川玲子：
小児期脊髄性筋萎縮症に対する運動機能評価尺度について～HFMSE,CHOP INTENDの検討～.
第51回日本理学療法学術大会,
北海道,
2016/05
|
|
5件表示
|
|
全件表示(8件)
|
|
ページの先頭へ
|
|
