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1

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome

Kuniba, Hideo, Yoshiura, Koh-ichiro, Kondoh, Tatsuro, Ohashi, Hirofumi, Kurosawa, Kenji, Tonoki, Hidefumi, Nagai, Toshiro, Okamoto, Nobuhiko, Kato, Mitsuhiro, Fukushima, Yoshimitsu, Kaname, Tadashi, N

Journal:

Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 218 KB

english, 2009

2

Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex

Nagata, Eiko, Kano, Hiroki, Kato, Fumiko, Yamaguchi, Rie, Nakashima, Shinichi, Takayama, Shinichiro, Kosaki, Rika, Tonoki, Hidefumi, Mizuno, Seiji, Watanabe, Satoshi, Yoshiura, Koh-ichiro, Kosho, Tomo

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 2.24 MB

english, 2014

3

A girl with Down syndrome and partial trisomy for 21pter-q22.13: A clue to narrow the Down syndrome critical region

Daisuke Sato, Hiroki Kawara, Osamu Shimokawa, Naoki Harada, Hidefumi Tonoki, Nobuhiro Takahashi, Yumi Imai, Hiromi Kimura, Naomichi Matsumoto, Tadashi Ariga, Norio Niikawa, Koh-ichiro Yoshiura

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 201 KB

english, 2008

4

Origin of the extra chromosome in trisomy 18

Tatsuro Kondoh, Hidefumi Tonoki, Tadashi Matsumoto, Masato Tsukahara, Norio Niikawa

Journal:

Year:

1988

Language:

english

File:

PDF, 213 KB

english, 1988

5

Isolation of Differentiated Squamous and Undifferentiated Spindle Carcinoma Cell Lines with Differing Metastatic Potential from a 4-Nitroquinoline N-Oxide-induced Tongue Carcinoma in a F344 Rat

Shinichi Takeuchi, Hayao Nakanishi, Kenji Yoshida, Shinji Yamamoto, Hidefumi Tonoki, Takahisa Tsukamoto, Shoji Fukushima, Tetsuya Moriuchi, Kenichi Kurita, Masae Tatematsu

Journal:

Year:

2000

Language:

english

File:

PDF, 8.66 MB

english, 2000

6

4q33-qter deletion and absorptive hypercalciuria: Report of two unrelated girls

Imamura, Keisaku, Tonoki, Hidefumi, Wakui, Keiko, Fukushima, Yoshimitsu, Sasaki, Satoshi, Yausda, Kazue, Takekoshi, Yasuo, Tochimaru, Hiroyuki

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 90 KB

english, 1998

7

Non-chromosome 15 marker chromosome in a Prader-Willi syndrome patient with uniparental disomy

MIZUHO ICHIKAWA, MAKI OKAJIMA, TAKAHITO WADA, YUMI GOKAN, HIROMI SHIMAKAGE, HIDEFUMI TONOKI, SHINJI SAITOH

Journal:

Pediatrics International

Year:

2006

Language:

english

File:

PDF, 63 KB

english, 2006

8

Mutchinick syndrome in a Japanese girl

Tonoki, Hidefumi, Hattori, Tetsuo, Kamoshida, Hisako, Ohta, Yachio, Niikawa, Norio

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 279 KB

english, 1999

9

Induction of Apoptosis in Melanoma Cell Lines by p53 and its Related Proteins

Yamashita, Toshiharu., Tokino, Takashi., Tonoki, Hidefumi., Moriuchi, Tetsuya., Jin, Hai-Ying., Omori, Fusayuki., Jimbow, Kowichi.

Journal:

The Journal of Investigative Dermatology

Year:

2001

Language:

english

File:

PDF, 247 KB

english, 2001

10

A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR

T. Kubota, Shigeaki Nonoyama, Hidefumi Tonoki, Mitsuo Masuno, Kiyoshi Imaizumi, Makiko Kojima, Keiko Wakui, Mitsunobu Shimadzu, Yoshimitsu Fukushima

Journal:

Year:

1999

Language:

english

File:

PDF, 162 KB

english, 1999

11

Distinct prognostic values of p53 mutations and loss of estrogen receptor and their cumulative effect in primary breast cancers

Masato Takahashi, Hidefumi Tonoki, Mitsuhiro Tada, Haruhiko Kashiwazaki, Keiji Furuuchi, Jun-ichi Hamada, Yasunori F ujioka, Yuji Sato, Hiromasa Takahashi, Satoru Todo, Noriaki Sakuragi, Tetsuya Moriu

Journal:

International Journal of Cancer

Year:

2000

Language:

english

File:

PDF, 117 KB

english, 2000

12

Identification of a marker chromosome as inv dup(15) by molecular analysis

Yoshitaka Shibuya, Hidefumi Tonoki, Naofumi Kajii, Norio Niikawa

Journal:

Clinical Genetics

Year:

1991

Language:

english

File:

PDF, 268 KB

english, 1991

13

Axenfeld–Rieger anomaly and Axenfeld–Rieger syndrome: Clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25

Hidefumi Tonoki, Naoki Harada, Osamu Shimokawa, Ayako Yosozumi, Kadomi Monzaki, Kohei Satoh, Rika Kosaki, Atsushi Sato, Naomichi Matsumoto, Susumu Iizuka

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 5.66 MB

english, 2011

14

New p57KIP2mutations in Beckwith-Wiedemann syndrome

I. Hatada, Akira Nabetani, Hiroko Morisaki, Zhenghan Xin, Sachiko Ohishi, Hidefumi Tonoki, Norio Niikawa, Masahiro Inoue, Yosuke Komoto, Akira Okada, Elisabeth Steichen, Hirofumi Ohashi, Yoshimitsu Fu

Journal:

Year:

1997

Language:

english

File:

PDF, 26 KB

english, 1997

15

Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 patients

Dr. Norio Niikawa, Yoshikazu Kuroki, Tadashi Kajii, Nobuo Matsuura, Satoshi Ishikiriyama, Hidefumi Tonoki, Nobuyoshi Ishikawa, Yutaka Yamada, Masafumi Fujita, Hidehiko Umemoto, Yoshihiko Iwama, Ikuko

Journal:

American Journal of Medical Genetics Part A

Year:

1988

File:

PDF, 1.18 MB

1988

16

Transcriptional slippage of p53 gene enhanced by cellular damage in rat liver: monitoring the slippage by a yeast functional assay

Yi Ba, Hidefumi Tonoki, Mitsuhiro Tada, Daichi Nakata, Jun-ichi Hamada, Tetsuya Moriuchi

Journal:

Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis

Year:

2000

Language:

english

File:

PDF, 267 KB

english, 2000

17

Prenatal identification of mos 45, X/46, X, +mar in a normal male baby by cytogenetic and molecular analysis

Nobuhiko Hoshi, Hidefumi Tonoki, Yasushi Handa, Takafumi Fujino, Kazuhiko Okuyama, Yasutsugu Koga, Yoshinori Matsumoto, Takahiro Yamada, Hideto Yamada, Tatsuro Kishida, Tadashi Sagawa, Kenji Fujieda,

Journal:

Prenatal Diagnosis

Year:

1998

Language:

english

File:

PDF, 194 KB

english, 1998

18

Predominance of the mutation at 1138 of the cDNA for the fibroblast growth factor receptor 3 in Japanese patients with achondroplasia

Hidefumi Tonoki, Jun Nakae, Toshihiro Tajima, Nozomi Shinohara, Junichi Monji, Shigenobu Satoh, Kenji Fujieda

Journal:

Journal of Human Genetics

Year:

1995

Language:

english

File:

PDF, 184 KB

english, 1995

19

High frequency of p53 mutations in human oral epithelial dysplasia and primary squamous cell carcinoma detected by yeast functional assay

Kashiwazaki, Haruhiko, Tonoki, Hidefumi, Tada, Mitsuhiro, Chiba, Itsuo, Shindoh, Masanobu, Totsuka, Yasunori, Iggo, Richard, Moriuchi, Tetsuya

Journal:

Year:

1997

Language:

english

File:

PDF, 328 KB

english, 1997

20

Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3)

Satoshi Ishikiriyama, Hidefumi Tonoki, Yoshitaka Shibuya, Shinki Chin, Naoki Harada, Kyohko Abe, Norio Niikawa

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 259 KB

english, 1989

21

Negative dystrophin staining in muscles of patients with complex glycerol kinase deficiency

Hidefumi Tonoki, Kenji Fujieda, Naofumi Kjii, Kunio Ozutsumi, Shogo Nagano, Norio Niikawa

Journal:

The Journal of Pediatrics

Year:

1990

Language:

english

File:

PDF, 936 KB

english, 1990

22

Adenovirus Type 5 E1A Immortalizes Primary Rat Cells Expressing Wild-Type p53

Yamashita, Toshiharu, Tonoki, Hidefumi, Nakata, Daichi, Yamano, Shigeru, Segawa, Kaoru, Moriuchi, Tetsuya

Journal:

Microbiology and Immunology

Year:

1999

Language:

english

File:

PDF, 6.28 MB

english, 1999

23

Cryptomicrotia and short, stubby fingers with excess fingertip arch patterns in a mother and son

Dr. Hidefumi Tonoki, Takehiko Ohura, Norio Niikawa, John M. Optiz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 399 KB

english, 1988

24

Phenotype–genotype correlation in two patients with 12q proximal deletion

Noriko Miyake, Hidefumi Tonoki, Marta Gallego, Naoki Harada, Osamu Shimokawa, Koh-ichiro Yoshiura, Tohru Ohta, Tatsuya Kishino, Norio Niikawa, Naomichi Matsumoto

Journal:

Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 207 KB

english, 2004

25

Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith–Wiedemann syndrome with epimutations

Maeda, Toshiyuki, Higashimoto, Ken, Jozaki, Kosuke, Yatsuki, Hitomi, Nakabayashi, Kazuhiko, Makita, Yoshio, Tonoki, Hidefumi, Okamoto, Nobuhiko, Takada, Fumio, Ohashi, Hirofumi, Migita, Makoto, Kosaki

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 1011 KB

english, 2014

26

A girl presenting with gradually elevated levels of serum creatinine: Questions

Hamada, Shiori, Kato, Chie, Takahashi, Toshiyuki, Hayashi, Asako, Ueda, Yasuhiro, Sato, Yasuyuki, Tonoki, Hidefumi, Okamoto, Takayuki

Journal:

Pediatric Nephrology

Year:

2020

File:

PDF, 143 KB

2020

27

A functional and quantitative mutational analysis of p53 mutations in yeast indicates strand biases and different roles of mutations in DMBA- and BBN-induced tumors in rats

Kazuhisa Yamamoto, Daichi Nakata, Mitsuhiro Tada, Hidefumi Tonoki, Takashi Nishida, Atsuko Hirai, Yi Ba, Tetsuya Aoyama, Jun-ichi Hamada, Keiji Furuuchi, Hiroshi Harada, Kei Hirai, Nobuhisa Shibahara,

Journal:

International Journal of Cancer

Year:

1999

Language:

english

File:

PDF, 116 KB

english, 1999

28

A boy with thanatophoric dysplasia surviving 212 days

Hidefumi Tonoki

Journal:

Clinical Genetics

Year:

1987

Language:

english

File:

PDF, 194 KB

english, 1987

29

Patient with del(12)(q12q13.12) manifesting abnormalities compatible with Noonan syndrome

Tonoki, Hidefumi, Saitoh, Shinji, Kobayashi, Kunihiko

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 70 KB

english, 1998

30

A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs

Hidefumi Tonoki, Tatsuya Kishino, Norio Niikawa

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 574 KB

english, 1990

31

Endotoxin Induces Glutathione Reductase Activity in Lungs of Mice

Hamburg, Donna C, Tonoki, Hidefumi, Welty, Stephen E, Geske, Robert S, Montgomery, Charles A, Hansen, Thomas N

Journal:

Pediatric Research

Year:

1994

Language:

english

File:

PDF, 607 KB

english, 1994

32

A girl presenting with gradually elevated levels of serum creatinine: Answers

Hamada, Shiori, Kato, Chie, Takahashi, Toshiyuki, Hayashi, Asako, Ueda, Yasuhiro, Sato, Yasuyuki, Tonoki, Hidefumi, Okamoto, Takayuki

Journal:

Pediatric Nephrology

Year:

2020

Language:

english

File:

PDF, 194 KB

english, 2020

33

Standard growth curves for Japanese patients with Prader-Willi syndrome

Toshiro Nagai, Nobutake Matsuo, Yasushi Kayanuma, Hidefumi Tonoki, Yoshimitsu Fukushima, Hirofumi Ohashi, Takayasu Murai, Tomoko Hasegawa, Yoshikazu Kuroki, Norio Niikawa

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 391 KB

english, 2000

34

Refractory Sacrococcygeal Germ Cell Tumor in Schinzel-Giedion Syndrome

Kishimoto, Kenji, Kobayashi, Ryoji, Yonemaru, Nozomi, Yamamoto, Hiroshi, Tsujioka, Takao, Sano, Hirozumi, Suzuki, Daisuke, Yasuda, Kazue, Suzuki, Masahiko, Ando, Akiko, Tonoki, Hidefumi, Iizuka, Susum

Journal:

Journal of Pediatric Hematology/Oncology

Year:

2015

Language:

english

File:

PDF, 415 KB

english, 2015

35

Selenium deficiency does not promote acute hepatitis in Long-Evans Cinnamon (LEC) rats

Jun-ichi Hamada, Narumi Kobayashi, Haruhiko Kashiwazaki, Hidefumi Tonoki, Tetsuya Moriuchi

Journal:

The Journal of Trace Elements in Experimental Medicine

Year:

1997

Language:

english

File:

PDF, 190 KB

english, 1997

36

Renal failure due to tubulointerstitial nephropathy in an infant with cranioectodermal dysplasia

Katsuyuki Obikane, Taiji Nakashima, Yoshihiko Watarai, Ken Morita, Kazutoshi Cho, Hidefumi Tonoki, Michio Nagata, Satoshi Sasaki

Journal:

Pediatric Nephrology

Year:

2006

Language:

english

File:

PDF, 180 KB

english, 2006

37

No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients

Shin Kobayashi, Hiraku Uemura, Takashi Kohda, Toshiro Nagai, Yasutsugu Chinen, Kenji Naritomi, Ei-ichi Kinoshita, Hirofumi Ohashi, Kiyoshi Imaizumi, Masato Tsukahara, Yoshitsugu Sugio, Hidefumi Tonoki

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 224 KB

english, 2001

38

Molecular study of the Prader-Willi syndrome: Deletion, RFLP, and phenotype analyses of 50 patients

Jun-Ichi Hamabe, Yoshimitsu Fukushima, Naoki Harada, Kyohko Abe, Nobutake Matsuo, Toshiro Nagai, Akira Yoshioka, Hidefumi Tonoki, Ryuichi Tsukino, Norio Niikawa

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 936 KB

english, 1991

39

Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)

Yamoto, Kaori, Saitsu, Hirotomo, Nishimura, Gen, Kosaki, Rika, Takayama, Shinichiro, Haga, Nobuhiko, Tonoki, Hidefumi, Okumura, Akihisa, Horii, Emiko, Okamoto, Nobuhiko, Suzumura, Hiroshi, Ikegawa, Sh

Journal:

European Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 3.30 MB

english, 2019

40

Identification of an autoimmune enteropathy–related 75-kilodalton antigen

Ichiro Kobayashi, Keisaku Imamura, Mitsuru Kubota, Susumu Ishikawa, Masafumi Yamada, Hidefumi Tonoki, Motohiko Okano, Wulf B. Storch, Tetsuya Moriuchi, Yukio Sakiyama, Kunihiko Kobayashi

Journal:

Gastroenterology

Year:

1999

Language:

english

File:

PDF, 436 KB

english, 1999

41

Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis

Indo, Yasuhiro, Tsuruta, Motoko, Hayashida, Yumi, Karim, Mohammad Azharul, Ohta, Kohji, Kawano, Tomoyasu, Mitsubuchi, Hiroshi, Tonoki, Hidefumi, Awaya, Yutaka, Matsuda, Ichiro

Journal:

Nature Genetics

Year:

1996

File:

PDF, 487 KB

1996

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