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A 欧 文
A-a
- T.Kondoh, O.Shimokawa, N.Harada,
T.Doi, C.Yun, Y.Gohda, F.Kinoshita,
T.Matsumoto H.Moriuchi:Genotype-phenotype
correlation of 5p-syndrome: pitfall
of diagnosis. J Hum Genet , 50 (1),
26-29, 2005.＊
- T.Kondoh, N.Amamoto, T.Doi, H.Hamada,
Y.Ogawa, M.Nakashima, H.Sasaki, K.Aikawa,
T.Tanaka, M.Aoki, J.Harada, H.Moriuchi:
Dramatic Improvement in Down Syndrome-Associated
Cognitive Impairment with Donepezil.
Ann Pharmacother, 39(3), 563-6, 2005.
＊◎
- T.Kondoh, M.Nakashima, H.Sasaki,
H.Moriuchi: Pharmacokinetics of donepezil
in Down syndrome. Ann Pharmacother,
39(3):572-3, 2005.＊◎
- N.Miyake, R.Visser, A.Kinoshita,
KI.Yoshiura, N.Niikawa, T.Kondoh, N.Matsumoto,
N.Harada, N.Okamoto, T.Sonoda, K.Naritomi,
T.Kaname, Y.Chinen, H.Tonoki, K.Kurosawa:
Four novel NIPBL mutations in Japanese
patients with Cornelia de Lange syndrome.
Am J Med Genet A, 135(1), 103-5, 2005.
＊
- T.Niihori, Y.Aoki, H.Ohashi, K.Kurosawa,
T.Kondoh, S.Ishikiriyama, H.Kawame,
H.Kamasaki, T.Yamanaka, F.Takada, K.Nishio,
M.Sakurai, H.Tamai, T.Nagashima, Y.Suzuki,
S.Kure, K.Fujii, M.Imaizumi, Y.Matsubara.
Functional analysis of PTPN11/SHP-2
mutants identified in Noonan syndrome
and childhood leukemia. J Hum Genet,
50(4): 192-202, 2005. ＊
- N.Kurotaki, JJ.Shen, M.Touyama, T.Kondoh,
V.Remco, T.Ozaki, J.Nishimoto, T.Shiihara,
K.Uetake, Y.Makita, N.Harada, S.Raskin,
CW.Brown, P.Hoglund, N.Okamoto, JR.Lupski.
Phenotype consequences of genetic variation
at hemizygous alleles: Sotos syndrome
is a contiguous gene syndrome incorporating
coaglation factor twelve (FXII) deficiency.
Genetics Med, 7(7), 479-483, 2005.
＊
- Takahira S, Kondoh T, Sumi M, Tagawa
M, Obatake M, Kinoshita E, Shimokawa
O, Harada N, Miyake N, Matsumoto N,
Moriuchi H. Klippel-Feil anomaly in
a boy and Dubowitz syndrome with vertebral
fusion in his brother: A new variant
of Dubowitz syndrome? Am J Med Genet
,138(3), 297-299, 2005. ＊
- Sumi M, Kusumoto T, Tagawa M, Kondoh
T, Ohno Y, Masuzaki H, Ishimaru T,
Moriuchi H. Two infantile cases of
congenital myotonic dystrophy with
cholelithiasis/cholestasis. Pediatr
Int, 47(5), 586-588, 2005. ＊
- Miyake N, Shimokawa O, Harada N,
Sosonkina N, Okubo A, Kawara H, Okamoto
N, Ohashi H, Kurosawa K, Naritomi K,
Kaname T, Nagai T, Shotelersuk V, Hou
JW, Fukushima.Y, Kondoh T, Matsumoto
T, Shinoki T, Kato M, Tonoki H, Nomura
M, Yoshiura K, Kishino T, Ohta T, Niikawa
N, Matsumoto N. No detectable genomic
aberrations by BAC array CGH in Kabuki
make-up syndrome patients. Am J Med
Genet A. 2005 Nov 8; [Epub ahead of
print] ＊
- Naganuma M, Kondoh T, Tashiro K,
Gohda Y, Nakane H, Kinoshita E, Matsumoto
T, Moriuchi H: The Jewish-type Cohen
syndrome complicated with refractory
bronchial asthma and depression. Pediatr
Int, 47(6), 691-693, 2005. ＊
- Moriuchi M, Yoshimine H, Oishi K,
Moriuchi H. Norepinephrine inhibits
human immunodeficiency virus type-1
infection through the NF-kappaB inactivation.
Virology, 2005 Nov 8 [Epub ahead of
print]. ＊
- Honda R, Ohno Y, Iwasaki T, Okudaira
S, Okada M, Kamitamari A, Oshima K,
Moriuchi H, Kanematsu T. Langerhansﾕ
cell histiocytosis after living donor
liver transplantation: report of a
case. Liver Transpl, 11(11), 1435-8,
2005. ＊
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