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51

Japanese kindred with FG syndrome

Rumiko Kato, Norio Niikawa, Toshiro Nagai, Yoshimitsu Fukushima

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 160 KB

english, 1994

52

De novo apparently balanced reciprocal translocation between 5q1l.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly

Yoshimitsu Fukushima, Hirofumi Ohashi, Keiko Wakui, Hiroshi Nishimoto, Masato Sato, Toshinori Aihara

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 290 KB

english, 1995

53

Asian hereditary neuropathy patients with peripheral myelin protein-22 gene aneuploidy

Akio Ohnishi, Lan-Ying Li, Yoshimitsu Fukushima, Toshio Mori, Masataka Mori, Chiyoko Endo, Takeo Yoshimura, Masanobu Sonobe, Robert Flandermeyer, Roger V. Lebo

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 1.02 MB

english, 1995

54

Atypical radiological findings in achondroplasia with uncommon mutation of the fibroblast growth factor receptor-3 (fgfr-3) gene (gly to cys transition at codon 375)

Gen Nishimura, Yoshimitsu Fukushima, Hirofumi Ohashi, Shiro Ikegawa

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 265 KB

english, 1995

55

Woman with UV hypersensitivity and a de novo unbalanced chromosome translocation

Keiko Akahoshi, Shin-Ichi Moriwaki, Satoshi Kimiya, Isamu Takahashi, Yoshimitsu Fukushima

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 225 KB

english, 2001

56

Generalized skeletal dysplasia in mother and daughter with 22q11 deletion syndrome

Masanori Adachi, Katsuhiko Tachibana, Yumi Asakura, Gen Nishimura, Yoshimitsu Fukushima, Satoru Sakazume

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 149 KB

english, 2003

57

Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: Clinical course and phenotypic variations in four patients

Gen Nishimura, Tomomi Honma, Takashi Shiihara, Noriyo Manabe, Eiji Nakajima, Masanori Adachi, Makoto Mikawa, Yoshimitsu Fukushima, Shiro Ikegawa

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 244 KB

english, 2003

58

EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma

Keiko Akahoshi, Satoru Sakazume, Kenjiro Kosaki, Hirofumi Ohashi, Yoshimitsu Fukushima

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 180 KB

english, 2003

59

A woman with 46,XX,dup(16)(p13.11 p13.3) and the ATR-X phenotype

Keiko Akahoshi, Hirohumi Ohashi, Yukio Hattori, Shinji Saitoh, Yoshimitsu Fukushima, Takahito Wada

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 200 KB

english, 2005

60

Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked α-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X

Takahito Wada, Hideo Sugie, Yoshimitsu Fukushima, Shinji Saitoh

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 60 KB

english, 2005

61

Ehlers–Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls

Tomoki Kosho, Jun Takahashi, Hirofumi Ohashi, Gen Nishimura, Hiroyuki Kato, Yoshimitsu Fukushima

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 311 KB

english, 2005

62

BAC array CGH reveals genomic aberrations in idiopathic mental retardation

Noriko Miyake, Osamu Shimokawa, Naoki Harada, Nadia Sosonkina, Aiko Okubo, Hiroki Kawara, Nobuhiko Okamoto, Kenji Kurosawa, Hiroshi Kawame, Mie Iwakoshi, Tomoki Kosho, Yoshimitsu Fukushima, Yoshio Mak

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 315 KB

english, 2006

63

Neonatal management of trisomy 18: Clinical details of 24 patients receiving intensive treatment

Tomoki Kosho, Tomohiko Nakamura, Hiroshi Kawame, Atsushi Baba, Masanori Tamura, Yoshimitsu Fukushima

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 100 KB

english, 2006

64

A new detection method for ATRX gene mutations using a mismatch-specific endonuclease

Takahito Wada, Yoshimitsu Fukushima, Shinji Saitoh

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 176 KB

english, 2006

65

No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome

Hideo Kuniba, Daisuke Sato, Koh-ichiro Yoshiura, Hirofumi Ohashi, Kenji Kurosawa, Noriko Miyake, Tasturo Kondoh, Tadashi Matsumoto, Toshiro Nagai, Nobuhiko Okamoto, Yoshimitsu Fukushima, Kenji Naritom

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 58 KB

english, 2008

66

Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5–11.1 Mb terminal deletion of 1p36

Shoji Saito, Rie Kawamura, Tomoki Kosho, Takashi Shimizu, Koki Aoyama, Kenichi Koike, Takahito Wada, Naomichi Matsumoto, Mitsuhiro Kato, Keiko Wakui, Yoshimitsu Fukushima

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 206 KB

english, 2008

67

Genital abnormalities in Pallister–Hall syndrome: Report of two patients and review of the literature

Yoko Narumi, Tomoki Kosho, Goro Tsuruta, Masaaki Shiohara, Ei Shimazaki, Tetsuo Mori, Ayako Shimizu, Yasuhiko Igawa, Shuji Nishizawa, Kimiyo Takagi, Rie Kawamura, Keiko Wakui, Yoshimitsu Fukushima

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 127 KB

english, 2010

68

Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers–Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients

Kenji Shimizu, Nobuhiko Okamoto, Noriko Miyake, Katsuaki Taira, Yumiko Sato, Keiko Matsuda, Noriko Akimaru, Hirofumi Ohashi, Keiko Wakui, Yoshimitsu Fukushima, Naomichi Matsumoto, Tomoki Kosho

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 2.97 MB

english, 2011

69

Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His

Yasushi Wakabayashi, Kyohei Yamazaki, Yoko Narumi, Satoshi Fuseya, Miki Horigome, Keiko Wakui, Yoshimitsu Fukushima, Yoichi Matsubara, Yoko Aoki, Tomoki Kosho

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 168 KB

english, 2011

70

Myelodysplastic syndrome in a child with 15q24 deletion syndrome

Yoko Narumi, Masaaki Shiohara, Keiko Wakui, Asahito Hama, Seiji Kojima, Kentaro Yoshikawa, Yoshiro Amano, Tomoki Kosho, Yoshimitsu Fukushima

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 242 KB

english, 2012

71

Peroxisome proliferator-activated receptor α protects against alcohol-induced liver damage

Tamie Nakajima, Yuji Kamijo, Naoki Tanaka, Eiko Sugiyama, Eiji Tanaka, Kendo Kiyosawa, Yoshimitsu Fukushima, Jeffrey M. Peters, Frank J. Gonzalez, Toshifumi Aoyama

Journal:

Year:

2004

Language:

english

File:

PDF, 1.06 MB

english, 2004

72

A response to: Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, “dermatan sulfate-deficient Adducted Thumb–Clubfoot Syndrome”. Which name is appropriate, “Adducted Thumb–Clubfoot Syndrome” or “Ehlers–Danlos syndrome”?

Tomoki Kosho, Noriko Miyake, Shuji Mizumoto, Atsushi Hatamochi, Yoshimitsu Fukushima, Shuhei Yamada, Kazuyuki Sugahara, Naomichi Matsumoto

Journal:

Year:

2011

Language:

english

File:

PDF, 115 KB

english, 2011

73

DHPLC is superior to SSCP in screening p53 mutations in esophageal cancer tissues

Osamu Yamanoshita, Takeo Kubota, Jun Hou, Yu-Min Ping, Xiu-Lan Zhang, Xiang-Ping Li, Shao-Sen Li, Xiao-Xian Li, De-Chen Zhu, Yoshimitsu Fukushima, Tamie Nakajima

Journal:

International Journal of Cancer

Year:

2005

Language:

english

File:

PDF, 109 KB

english, 2005

74

Response to Breton et al. specificity of TP53 mutation screening methods in cancerous tissues

Osamu Yamanoshita, Takeo Kubota, Jun Hou, Yu-Min Ping, Xiu-Lan Zhang, Xiang-Ping Li, Shao-Sen Li, Xiao-Xian Li, De-Chen Zhu, Yoshimitsu Fukushima, Tamic Nakajima

Journal:

International Journal of Cancer

Year:

2006

Language:

english

File:

PDF, 41 KB

english, 2006

75

Low-level laser irradiation enhances BMP-induced osteoblast differentiation by stimulating the BMP/Smad signaling pathway

Shizu Hirata, Chiaki Kitamura, Hidefumi Fukushima, Ikuo Nakamichi, Yoshimitsu Abiko, Masamichi Terashita, Eijiro Jimi

Journal:

Journal of Cellular Biochemistry

Year:

2010

Language:

english

File:

PDF, 596 KB

english, 2010

76

Transformation of Oral Streptococci with Single-Stranded DNA Plasmids and Their Compatibility

Teruaki Shiroza, Noriko Shinozaki, Kazuo Fukushima, Yoshimitsu Abiko

Journal:

Analytical Biochemistry

Year:

1997

Language:

english

File:

PDF, 283 KB

english, 1997

77

Applying empirical methods in site classification, using response spectral ratio (H/V): A case study on Iranian strong motion network (ISMN)

Hadi Ghasemi, Mehdi Zare, Yoshimitsu Fukushima, Fereidoon Sinaeian

Journal:

Soil Dynamics and Earthquake Engineering

Year:

2009

Language:

english

File:

PDF, 1.71 MB

english, 2009

78

Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus–Merzbacher disease

Ken Inoue, Makoto Kanai, Yuzo Tanabe, Takeo Kubota, Catherine D. Kashork, Keiko Wakui, Yoshimitsu Fukushima, James R. Lupski, Lisa G. Shaffer

Journal:

Prenatal Diagnosis

Year:

2001

Language:

english

File:

PDF, 107 KB

english, 2001

79

Possible mapping of the gene for transient myeloproliferative syndrome at 21q11.2

Norio Niikawa, Han-Xiang Deng, Kyohko Abe, Naoki Harada, Toshihisa Okada, Hiroyuki Tsuchiya, Izumi Akaboshi, Ichiro Matsuda, Yoshimitsu Fukushima, Yasuhiko Kaneko, Akira Kuwano, Tadashi Kajii

Journal:

Year:

1991

Language:

english

File:

PDF, 632 KB

english, 1991

80

Recurrence of osteogenesis imperfecta because of paternal mosaicism: Gly862→Ser substitution in a type I collagen gene (COL1A1)

Chisato Namikawa, Kaoru Sozumori, Yoshimitsu Fukushima, Makoto Sasaki, Akira Hata

Journal:

Year:

1995

Language:

english

File:

PDF, 740 KB

english, 1995

81

Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients

Shiro Ikegawa, Yoshimitsu Fukushima, Minoru Isomura, Fumio Takada, Yusuke Nakamura

Journal:

Year:

1995

Language:

english

File:

PDF, 388 KB

english, 1995

82

DNA analyses of XX and XX-hypospadiac males

Hironao Numabe, Shigeo Nagafuchi, Yutaka Nakahori, Takashi Tamura, Hiromichi Kiuchi, Mikio Namiki, Naoya Kohda, Yoshimitsu Fukushima, Hideki Fuse, Motoyasu Kusano, Takayuki Arai, Yutaka Matsuzaki, Kei

Journal:

Year:

1992

Language:

english

File:

PDF, 523 KB

english, 1992

83

Refinement of the locus for X-linked recessive chondrodysplasia punctata

Koji Muroya, Tsutomu Ogata, Gudrun Rappold, Albrecht Klink, Yutaka Nakahori, Yoshimitsu Fukushima, Katsuya Aizu, Nobutake Matsuo

Journal:

Year:

1995

Language:

english

File:

PDF, 317 KB

english, 1995

84

Familial retinoblastoma (mother and son) with 13q14 deletion

Yoshimitsu Fukushima, Yoshikazu Kuroki, Taizo Ito, Ikuko Kondo, Itsuro Nishigaki

Journal:

Year:

1987

Language:

english

File:

PDF, 707 KB

english, 1987

85

Microcephaly and early-onset nephrotic syndrome —confusion in Galloway-Mowat syndrome

Hitomi Sano, Akihiko Miyanoshita, Naoki Watanabe, Yasutsugu Koga, Yoshio Miyazawa, Yutuka Yamaguchi, Yoshimitsu Fukushima, Noritomo Itami

Journal:

Pediatric Nephrology

Year:

1995

Language:

english

File:

PDF, 1.43 MB

english, 1995

86

Predisposition to autoimmune thyroiditis in ring chromosome 18 syndrome

Yoshimitsu Fukushima, Tetsuo Fukuda, Yoshikazu Kuroki, Norio Niikawa, Nobuo Matsuura, Yutaka Yamada, Atsushi Ieshima

Journal:

Journal of Human Genetics

Year:

1984

Language:

english

File:

PDF, 765 KB

english, 1984

87

Partial distal 12q trisomy with arachnoid cyst

Mitsuo Masuno, Yoshimitsu Fukushima, Yoshitsugu Sugio, Yoshikazu Kuroki

Journal:

Journal of Human Genetics

Year:

1987

Language:

english

File:

PDF, 703 KB

english, 1987

88

De novointerstitial deletion of 4q[46,XX,del(4)(q27q28.2)] with intact blood group-MN locus, confining its locus to 4q28.2–4q31.1

Keiko Wakui, Toshiro Nishida, Jun-ichiro Masuda, Takeshi Itoh, Daisuke Katsumata, Tsutomu Ohno, Yoshimitsu Fukushima

Journal:

Journal of Human Genetics

Year:

1991

Language:

english

File:

PDF, 494 KB

english, 1991

89

The Prader-Willi syndrome and interstitial deletion of chromosome 15: High-resolution chromosome analyses of 14 patients with the Prader-Willi syndrome and of 5 suspected infants

Yoshimitsu Fukushima, Norio Niikawa, Yoshikazu Kuroki

Journal:

Journal of Human Genetics

Year:

1984

Language:

english

File:

PDF, 392 KB

english, 1984

90

A case of an interstitial deletion of the long arm of chromosome 5: 46,XX,del(5)(q15q22)

Tetsuo Fukuda, Yoshimitsu Fukushima, Yoshikazu Kuroki

Journal:

Journal of Human Genetics

Year:

1984

Language:

english

File:

PDF, 527 KB

english, 1984

91

Two unrelated cases of single maxillary central incisor with 7q terminal deletion

Mitsuo Masuno, Yoshimitsu Fukushima, Yoshitsugu Sugio, Masakazu Ikeda, Yoshikazu Kuroki

Journal:

Journal of Human Genetics

Year:

1990

Language:

english

File:

PDF, 783 KB

english, 1990

92

Activity and antigen of coagulation factors VII and X in five patients with abnormal chromosome 13

Yoshimitsu Fukushima, Yoshikazu Kuroki, Atsushi Iizuka

Journal:

Journal of Human Genetics

Year:

1987

Language:

english

File:

PDF, 731 KB

english, 1987

93

A rapid method for starting a culture for the establishment of Epstein-Barr virus-transformed human lymphoblastoid cell lines

Yoshimitsu Fukushima, Hirofumi Ohashi, Keiko Wakui, Toshiro Nishida, Tsutomu Oh-Ishi

Journal:

Journal of Human Genetics

Year:

1992

Language:

english

File:

PDF, 131 KB

english, 1992

94

The Costello syndrome: Are nasal papillomata essential?

Reiko Yoshida, Yoshimitsu Fukushima, Hirofumi Ohashi, Masako Asoh, Yukio Fukuyama

Journal:

Journal of Human Genetics

Year:

1993

Language:

english

File:

PDF, 1.05 MB

english, 1993

95

Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: A prospective study

Kazuhiro Takahashi, Sachiko Kido, Kenji Hoshino, Kiyoshi Ogawa, Hirofumi Ohashi, Yoshimitsu Fukushima

Journal:

European Journal of Pediatrics

Year:

1995

Language:

english

File:

PDF, 1.03 MB

english, 1995

96

Assessment of myocardial washout of Tc-99m-sestamibi in patients with chronic heart failure: Comparison with normal control

Shin-ichiro Kumita, Yoshihiko Seino, Keiichi Cho, Hidenobu Nakaio, Masahiro Toba, Yoshimitsu Fukushima, Noriake Okamoto, Teruo Takano, Tatsuo Kumazaki

Journal:

Annals of Nuclear Medicine

Year:

2002

Language:

english

File:

PDF, 549 KB

english, 2002

97

Assessment of left ventricular function using solid-state gamma camera equipped with a highly-sensitive collimator

Shin-ichiro Kumita, Keiji Tanaka, Keiichi Cho, Naoki Sato, Hidenobu Nakajo, Masahiro Toba, Yoshimitsu Fukushima, Sunao Mizumura, Teruo Takano, Tatsuo Kumazaki

Journal:

Annals of Nuclear Medicine

Year:

2003

Language:

english

File:

PDF, 342 KB

english, 2003

98

Assessment of contractile response to dobutamine stress by means of ECG-gated myocardial SPECT: Comparison with myocardial perfusion and fatty acid metabolism

Shin-ichiro Kumita, Keiichi Cho, Hidenobu Nakajo, Masahiro Toba, Yoshimitsu Fukushima, Sunao Mizumura, Junko Sano, Teruo Takano, Tatsuo Kumazaki

Journal:

Annals of Nuclear Medicine

Year:

2005

Language:

english

File:

PDF, 1.07 MB

english, 2005

99

A Characteristic Rupture Model for the 2001 Geiyo, Japan, Earthquake

Shin’ichi Matsuzaki, Arben Pitarka, Nancy Collins, Robert Graves, Yoshimitsu Fukushima

Journal:

Pure and Applied Geophysics

Year:

2011

Language:

english

File:

PDF, 2.38 MB

english, 2011

100

NovelArtemisgene mutations of radiosensitive severe combined immunodeficiency in Japanese families

Norimoto Kobayashi, Kazunaga Agematsu, Kanji Sugita, Masahiro Sako, Shigeaki Nonoyama, Akihiro Yachie, Satoru Kumaki, Shigeru Tsuchiya, Hans D. Ochs, Katsuo Sugita, Yoshimitsu Fukushima, Atsushi Komiy

Journal:

Year:

2003

Language:

english

File:

PDF, 222 KB

english, 2003