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研究成果の刊行に関する一覧表レイアウト
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書籍名 出版社名 出版地 出版年 ページ
雑誌
発表者氏名 論文タイトル名 発表誌名 巻号 ページ 出 版
年
Fukami M*,
Shozu M, Ogata
T
Molecular bases andphenotypic determinants ofaromatase excess syndrome.
Int J Endocrinol. m press. 2011
Kagarni M, Kato
F, Ogata T, et a1.
Paternal uniparental disomy
14 syndrome: relativefrequency of underlying
genetic factors.
Eur J Hum Genet. m press. 2011
Fuke-Sato T，Yamazawa K ，
Ogata T,et al.
Mosaic upd(7)mat in apatient with Silver-Russell
syndrome: correlationbetween phenotype and
mosaic ratio in the body andthe placenta.
Am J Med GenetA.
accepted. 2011
Soneda S，
Yazawa T,OgataT,et al.
Proximal promoter of the
cytochrome P450oxidoreductase gene:
identification ofmicrodeletions involving theuntranslated exon l and
critical function of the SPlbinding site.
J Clin Endocrinol
Metab.96(11) El 881―
18872011
Matsubara K，
Murakami N,Ogata T,et al.
Maternal age effect on the
development of Prader-Willisyndrome resulting from
upd(15)mat through meiosisl errors.
J Hum Genet. 56 (8) 566-71 2011
Nakamura M ，
Fukami M,Ogata T,et a1.
Mamldl knockdown reduces
testosterone production andCyplﾌal expression inmouse Leydig tumor cells.
PLoS ONE. 6(4) el 9123 2011
Fukami M, Aromatase excess syndrome: J Clin Endocrinol 96 (6) E1035- 2011
15
Shozu M,OgataT,et al
identification of cryptic
duplications and deletionsleading to gain-of-function of
CYP19A1 and assessment ofphenotypic determinants.
Metab. 1043
Miyazaki O*,
Nishimura G，Ogata T,et a1.
Radiological evaluation ofdysmorphic thorax in
paternal uniparental disomy
for chromosome 14.
Ped Radiol 41 (8) 1013一1019 2011
Dateki S，
Fukami M,Ogata T,et al.
Identification of chromosome15q terminal deletion with
telomere sequences and itsbearing on
genotype-phenotype analysis.
Endocr J 58(3) 155-159 2011
Fukami M,
Muroya K，Ogata T,et al.
GATA3 abnormalities in six
patients with HDR syndrome.
Endocr J 58(2) 117-121 2011
Yamazawa K ，
Nakabayashi K，Ogata T,et al.
Androgenetic/biparentalmosaicism in a girl with
Beckwith-Wiedemannsyndrome-like and
upd(14)pat-like phenotypes.
J Hum Genet 56(I) ９卜93 2011
Suzumori N*,
Ogata T, OgataT,et a1.
Prenatal diagnosis of paternaluniparental disomy 14:
delineation of further patient.
Am J Med Genet A 152A (12) 3189-3192 2010
Matsubara K，
Iwamoto H ，Ogata T,et al.
Semen analysis andsuccessful paternity by
intracytoplasmic sperminjection in a man with
steroid 5 alpha-reductase-2
deficiency･
Fertil Steril 94 (7) 2770.e7-
2770.elO,2010
Yamazawa K ，Nakabayashi K，
Ogata T,et al.
Parthenogeneticchimaerism/mosaicism with aSilver-Russell Syndrome-like
Phenotype.
J Med Genet 47(11) 782-785 2010
Kagami M,O'Sullivan MJ,
Ogata T,et al.
The IG-DMR and the
MEG3-DMR at hum鉦chromosome 14q32.2:hierarchical interaction and
distinct functional propertiesas imprinting control centers.
PLoS Genet 6(6) el000992 2010
Dateki S，Fukami M,Ogata T,et al.
Mutation飢d gene copynumber analyses of six
pituitary transcription factor
genes in 71 patients withcombined pituitary hormone
deficiency: identification of asingle patient with LHX4deletion.
J Clin Endocrinol
Metab
95 (8) 4043-4047 2010
Fukami M*,Nagai T, OgataT,et al.
Anorectal and urinaryanomalies and aberrant
retinoic acid metabolism incytochrome P450
oxidoreductase deficiency.
M01 Genet Metab 100(3) 269-273 2010
Muroya K，
Mochizuki T，
Diabetes mellitus in aJapanese girl with HDR
Endocr J 157(2) 171-174 2010
16
Ogata T,et al. syndrome and GATA3mutation.
Fukami M,
Maruyama T ，Ogata T,et al.
Hypothalamic dysfunction in
a female with isolatedhypogonadotropic
hypogonadism andcompound heterozygous
TACR3 mutations andclinical manifestation in her
heterozygous mother.
Horm Res Peadiatr 73 (6) 477-481 2010
Dateki S，Kosaka K，
Ogata T,et al.
'･ Heterozygous OTχ2mutations are associated with
variable pituitary phenotype.
J Clin Endocrinol
Metab
95(2) 756-764 2010
Dateki S，Hizukuri K,
Ogata T,et a1.
An immunologicallyanomalous but considerably
bioactive growth hormone
produced by a novel GHlmutation (p.Dl 16E).
Eur J Endocrinol 161 (2) 30卜306 2009
Wada Y*,
Nishimura G，Ogata T,et al.
Mutation analysis of S0X9
and single copy numbervariant analysis of the
upstream region in eightpatients with campomelicdysplasia or acampomelic
campomelic dysplasia.
Am J Med Genet
A149A (12) 2882-2885 2009
Fukami M*,
Nishimura G，Ogata T,et a1.
Cytochrome P450
oxidoreductase deficiency:identification and
characterization of biallelicmutations and
genotype-phenotypecorrelations in 35 Japanesepatients.
J Clin Endocrinol
Metab94 (5) ]723-1731 2009
Sugawa F, Wada
Y, Ogata T,et al.
Premature ovarian failure and
androgen receptor gene CAGrepeat lengths weighted by χ
chromosome inactivationpatterns.
Fertil Steril 91 (2) 649-652 2009
Oue T，
Fukuzawa M ，Okita H, et al.
Outcome of pediatric rena】
tumor treated using the JapanWilms Tumor Study-1
(JWiTS-1) protocol: a reportfrom the JWiTS Group･
Pediatr Surg Int. 25 923-929 2009
Ohshima J，
Haruta M, Arai
Y ,et a1
Two candidate tumor
suppressor genes, MEOx2
and SOSTDC1, identified inaﾌp2 1 homozygous deletionregion m a Wilms tumor.
Genes
ChromosomesCancer.
48(12) 1037-1050 2009
Kaneko T, Okita
H, Nak耐ima H,et a1.
Neuroblastoma cells can be
classified according todistinctive glycosphingolipidexpression profiles identified
by liquidchromatography-tandem
mass spectrometry.･
Int J Oncol. 37(5) 1279-88 2010
福嶋義光 遺伝子診療と倫理 糖尿病学の進歩 45 86-89 2009
－17 －
2009
福嶋義光 遺伝子診療と倫理（特集：
遺伝性消化管疾患の特徴と
長期経過）
胃と腸 45 2101-2103 2010
福嶋義光 遺伝子診療学とは．遺伝子
診療学（第２版）遺伝子診
断の進歩とゲノム治療の展
望
日本臨床 68 1-3 2010
福嶋義光 遺伝医療の基盤整備・均て
ん化．（遺伝医療と社会
Vol.4)
医学のあゆみ 237 (7) 803-805 20n
會則言子、浦野
真理、斎藤加代
子、他
模擬患者を導入した遺伝カ
ウンセリング演習の試み
日本遺伝カウン
セリング学会誌
29 39-48 2009
近藤恵里、川道
弥生、斎藤加代
子、他
Duchenf!e型筋ジストロフ
ィーに対する副腎皮質ステ
ロイドとgentamicinの併用
投与効果の基礎的検討
脳と発達 41 132-134 2009
苛原香、浦野真
理、斎藤加代
子、他
遺伝性溶血性貧血の遺伝カ
ウンセリング
日本遺伝カウン
セリング学会誌
30 1-8 2009
Sasaki R,SaitoK,Watanabe Y,
et al.
Nevoid basal cell carcinomasyndrome with cleft lip andpalate associated with the
novel PTCH gene mutations
Journal of Human
Genetics54 398-402 2009
Shimojima K，
Saito K，
Yamamoto T
A de novo 1.9-Mb interstitial
deletion of 3q 13.2ql3.31 in agirl with dysmorphic
featぽes, muscle hypotonia,and developmental delay･
American journal
of medicalgenetics
149 A 1818-1822 2009
斎藤加代子 日常診療に必要な臨床遺伝
学と遺伝カウンセリング
日本医師会雑誌 139 573-576 2010
Kawamichi Y，Cui CH,Saito K，
et al.
Cells of extraembryonicmesodermal oriがn confer
human dystrophin in the mdxmodel of Duchenne musculardystrophy
Journal 0f cellular
physiology
223 695-702 2010
Shim司ima K，
Inoue T,Saito K，et al.
Comprehensive genetic
analyses ofPLPl in patientswith Pelizaeus-Merzbacher
disease applied byarray‘CGH and fiber-FISH
analyses identified newmutations and variable sizesof duplications
Brain &Development
32 171-179 2010
Shimojima K，Sugiura C,Saito
K,et al.
Genomic copy numbervariations at 17p13.3 and
epileptogenesis
Epilepsy Research 89 303-309 2010
Sasaki R，MiyashitaT,Saito K, et al.
Multiple keratocysticodontogenic tumorsassociated with nevoid basal
cell carcinoma syndromehaving distinct PTCH1
Oral Surg Oral
Med Oral PatholOral Radiol Endod
110 e41-46 2010
18
mutations: a case reportKondo H ， Saito
K, Urano M， etal.
A case of Fukuyama
Congenital Muscular
Dystrophy Associated withNegative Electroretinograms
Japanese Journal
of Ophthalmology54 622-624 2010
福島武眷、斎藤
加代子、菅野
仁、他
遺伝子検査結果の電子化 日本遺伝カウン
セリング学会誌
３１ 13口35 2010
Nagao K, FujiiK, Saito K, et al.
Entire PTCH1 deletion is acommon event in point
mutation-negative cases withnevoid basal cell carcinoma
syndrome in Japan
Clinical Genetics 79 196-198 2011
宮下俊之、桐生
麻衣子、斎藤加
代子、他
見逃してはいけない家族性
腫瘍：本邦における母斑基
底細胞癌症候群の遺伝子変
異と臨床的特徴
家族性腫瘍 Ｈ I伺 ８ 2011
Takahashi
Y.HosokiK,Saito K, et al.
A Loss-of-･Function Mutationin the SLC9A6 Gene Causes
X-Linked Mental RetardationResembling Angelman
Syndrome
American journalof medicalgenetics
Part B 156 799-807 2011
Miyatake S，
Miyake N，Matsubara Y,et
al.
Homozygous c.14576G>Avariant of RNF213 predictsearly-onset and severe form
of Moyamoya disease.
Neurology in press
Auerbach AD,
BurnJ,Matsubara Y,etal.
Mutation (variation)
databases and registries: arationale for coordination of
efforts.
Nature Rev Genet 12(12) 881 2011
Wakabayashi yYamazaki
K,MatsubaraY,et al.
Implantable cardioverterdefibrillator for progressive
hypertrophic cardiomyopathyin a patient with LEOPARDsyndrome and a novel
PTPN H mutationGln510His.
Am J Med Genet
A
155A( 10) 2529-33 20凵
Adachi M, Abe
Y,MatsubaraY,et al.
Epilepsy in RAS/MAPK
syndrome: Two cases ofcardio-facio-cutaneous
syndrome with epilepticencephalopathy and a
literature review.
Seizure. Epub ahead of print 2011
Niihori T, AokiY,Matsubara
Y,et al.
HRAS mutants identified inCostello syndrome patients
can induce cellularsenescence: possible
implications for thepathogenesis of Costellosyndrome.
Ｊ Hum Genet. 56(10) 707-15 2011
Tamaki Y, AraiT, ,MatsubaraY,et al.
Association between Cancer
Risk and Drug-metabolizingEnzyme Gene (CYP2A6,
CYP2A13, CYP4B1,SULT1A1, GSTM1, and
Drug Metab
Pharmacokinet26(5) 516-22 2011
19
GSTT1) Polymorphisms inCases ofLung Cancer in
Japan.
Honda M ， Muroi
Y,MatsubaraY,et al.
Functional characterization ofCYP2B6 allelic variants in
demethylation of antimalarial
artemether.
Drug Metab
Dispos
39(10) 1860-5 2011
Tamaki Y,
HondaM,MatsubaraY,et al.
Novel Single NucleotidePolymorphism of theCYP2A13 Gene in Japanese
Individuals.
Drug MetabPharmacokinet.
26(5) 544-7 2011
Ohashi H,SuzumoriK,Matsubara
Y,et a1.
Implications of prenatal
diagnosis of the fetus with
both interstitial deletion and a
small marker ring originating
from Chromosome 5.
Am J Med GenetA
155A 192-6, 2011
Kamada F, Aoki
Y,Matsubara
Y,et al.
A genome-wide association
study identifies RNF2 1 3 asthe first Moyamoya disease
gene.
Ｊ Hum Genet 56 34-40 2011
Aizaki K, SugaiK,Matsubara
Y,et a1.
Cardio-facio-cutaneoussyndrome with infantile
spasms and delayedmyelination.
Brain Dev 33 166-9 2011
Watanabe Y，Yano
S,Matsubara Y,eta1.
A familial case of LEOPARD
syndrome associated with ahigh‘functioning autism
spectrum disorder.
Brain Dev 33(7) 576-9, 20H
Komatsuzaki S，Aoki
Y,MatsubaraY,et al.
Mutation analysis of the
SHOC2 gene in Noonan-likesyndrome and in hematologic
malignancies.
J Hum Genet. 55 801-809 2010
Ohtake A, Aoki
Y,MatsubaraY,et a1.
Non-Hodgkin Lymphoma in
a Patient WithCardiofaciocutaneousSyndrome.
J Pediatr Hematol
Oncol
E pub ahead
of print
2010
Kobayashi T，
AokiY,Matsubara
Y,et al.
Molecular and clinical
analysis of RAF1 in Noonan
syndrome and relateddisorders: dephosphorylation
of serine 259 as the essentialmechanism for mutantactivation.
Human Mutat ３１ 284-94 2010
20
