Wakamatsu, Nobuaki: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

1

Molecular Analysis of Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) Deficiencies: Novel Mutations and the Spectrum of Japanese Mutations

Yamada, Yasukazu, Nomura, Noriko, Yamada, Kenichro, Wakamatsu, Nobuaki, Kaneko, Kiyoko, Fujimori, Shin

Journal:

Nucleosides Nucleotides & Nucleic Acids

Year:

2008

Language:

english

File:

PDF, 67 KB

english, 2008

2

Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2

Fukushi, Daisuke, Yamada, Kenichiro, Nomura, Noriko, Naiki, Misako, Kimura, Reiko, Yamada, Yasukazu, Kumagai, Toshiyuki, Yamaguchi, Kumiko, Miyake, Yoshishige, Wakamatsu, Nobuaki

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 2.08 MB

english, 2014

3

Two cases of partial trisomy 21 (pter-q22.1) without the major features of Down syndrome

Yoko Kondo, Seiji Mizuno, Kei Ohara, Takeshi Nakamura, Kenichiro Yamada, Shunji Yamamori, Chiemi Hayakawa, Takashi Ishii, Yasukazu Yamada, Nobuaki Wakamatsu

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 229 KB

english, 2006

4

The functional significance of human notochord in the development of vertebral column. An electron microscopic study.

MURAKAMI, TAKASHI, WAKAMATSU, EIKICHI, TAMAHASHI, NOBUAKI, TAKAHASHI, TOHRU

Journal:

The Tohoku Journal of Experimental Medicine

Year:

1985

Language:

english

File:

PDF, 17.06 MB

english, 1985

5

Clinical variability in a Japanese hereditary lymphedema type I family with an FLT4 mutation

Seiji Mizuno, Yasukazu Yamada, Kenichiro Yamada, Noriko Nomura, Nobuaki Wakamatsu

Journal:

Congenital Anomalies

Year:

2005

Language:

english

File:

PDF, 115 KB

english, 2005

6

Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1-qter)

Seiji Mizuno, Daisuke Fukushi, Reiko Kimura, Kenichiro Yamada, Yasukazu Yamada, Toshiyuki Kumagai, Nobuaki Wakamatsu

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 3.75 MB

english, 2011

7

10.1038/86860

Wakamatsu, Nobuaki, Yamada, Yasukazu, Yamada, Kenichiro, Ono, Takao, Nomura, Noriko, Taniguchi, Hiroko, Kitoh, Hiroshi, Mutoh, Norihiro, Yamanaka, Tsutomu, Mushiake, Kyosuke, Kato, Kanefusa, Sonta, Sh

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 288 KB

english, 2001

8

Novel mutation in HPRT1 causing a splicing error with multiple variations

Baba, Shimpei, Saito, Takashi, Yamada, Yasukazu, Takeshita, Eri, Nomura, Noriko, Yamada, Kenichiro, Wakamatsu, Nobuaki, Sasaki, Masayuki

Journal:

Nucleosides Nucleotides & Nucleic Acids

Year:

2016

Language:

english

File:

PDF, 747 KB

english, 2016

9

Hearing impairment in a female infant with interstitial deletion of 2q24.1q24.3

Ono, Hiroaki, Kurosawa, Kenji, Wakamatsu, Nobuaki, Masuda, Shin

Journal:

Congenital Anomalies

Year:

2017

Language:

english

File:

PDF, 395 KB

english, 2017

10

A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease

Zhang, Zhi-Xin, Wakamatsu, Nobuaki, Akerman, Beverly R., Mules, Emily H., Thomas, George H., Gravel, Roy A.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 3.55 MB

english, 1995

11

Erratum to “The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations”

Wakamatsu, Nobuaki

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 97 KB

english, 2015

12

Different Tissue Distributions of Two Types of Thiol Proteinase Inhibitors from Rat Liver and Epidermis1

KOMINAMI, Eiki, BANDO, Yoshiaki, WAKAMATSU, Nobuaki, KATUNUMA, Nobuhiko

Journal:

Journal of Biochemistry

Year:

1984

File:

PDF, 2.88 MB

1984

13

Molecular Analysis of X-Linked Inborn Errors of Purine Metabolism: HPRT1 and PRPS1 Mutations

Yamada, Yasukazu, Yamada, Kenichiro, Nomura, Noriko, Yamano, Arisa, Kimura, Reiko, Naiki, Misako, Fukushi, Daisuke, Wakamatsu, Nobuaki, Taniguchi, Atsuo, Yamaoka, Noriko, Kaneko, Kiyoko, Fujimori, Shi

Journal:

Nucleosides Nucleotides & Nucleic Acids

Year:

2011

Language:

english

File:

PDF, 116 KB

english, 2011

14

Characterization of the human MANB gene encoding lysosomal α-d-mannosidase

Nobuaki Wakamatsu, Yasuo Gotoda, Shiro Saito, Hisaomi Kawai

Journal:

Year:

1997

Language:

english

File:

PDF, 808 KB

english, 1997

15

Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) Deficiencies: HPRT1 Mutations in New Japanese Families and PRPP Concentration

Yamada, Yasukazu, Nomura, Noriko, Yamada, Kenichiro, Kimura, Reiko, Fukushi, Daisuke, Wakamatsu, Nobuaki, Matsuda, Yasufumi, Yamauchi, Takahiro, Ueda, Takanori, Hasegawa, Hiroshi, Nakamura, Makiko, Ic

Journal:

Nucleosides Nucleotides & Nucleic Acids

Year:

2014

Language:

english

File:

PDF, 86 KB

english, 2014

16

Glomerular basement membrane injuries in IgA nephropathy evaluated by double immunostaining for α5(IV) and α2(IV) chains of type IV collagen and low-vacuum scanning electron microscopy

Masuda, Yukinari, Yamanaka, Nobuaki, Ishikawa, Arimi, Kataoka, Mitue, Arai, Takashi, Wakamatsu, Kyoko, Kuwahara, Naomi, Nagahama, Kiyotaka, Ichikawa, Kaori, Shimizu, Akira

Journal:

Clinical and Experimental Nephrology

Year:

2015

Language:

english

File:

PDF, 3.26 MB

english, 2015

17

MBTPS2 mutation causes BRESEK/BRESHECK syndrome

Misako Naiki, Seiji Mizuno, Kenichiro Yamada, Yasukazu Yamada, Reiko Kimura, Makoto Oshiro, Nobuhiko Okamoto, Yoshio Makita, Mariko Seishima, Nobuaki Wakamatsu

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 327 KB

english, 2012

18

Treatment of Neurological Complications in Isolated ACTH Deficiency by Glucocorticoid Replacement.

SATO, Masahisa, YANAGISAWA, Katsuhiko, KONDO, Hiroshi, WAKAMATSU, Nobuaki, TANI, Nagayuki, MIYATAKE, Tadashi

Journal:

Japanese Journal of Medicine

Year:

1991

Language:

english

File:

PDF, 685 KB

english, 1991

19

A case of relapsing polychondritis with islet cell antibodies (ICA) positive NIDDM : With special reference to a therapeutic trial with colchicine.

WAKAMATSU, Nobuaki, TAKAZAWA, Tetsuya, WAKUI, Ichiro, YAWATA, Kazuaki, TSUDA, Akiko, MOMOTSU, Takeshi, NASHIMOTO, Izumi, ITO, Seiki, SHIBATA, Akira, SUZUKI, Toshimitsu

Journal:

Nihon Naika Gakkai Zasshi

Year:

1986

File:

PDF, 2.61 MB

1986

20

Identification and characterization of splicing variants of PLEKHA5 (Plekha5) during brain development

Kenichiro Yamada, Noriko Nomura, Arisa Yamano, Yasukazu Yamada, Nobuaki Wakamatsu

Journal:

Year:

2012

Language:

english

File:

PDF, 665 KB

english, 2012

21

Variations in aganglionic segment length of the enteric neural plexus in Mowat-Wilson syndrome

Naoko Ishihara, Atsuyoshi Shimada, Junji Kato, Norihiro Niimi, Shuichi Tanaka, Kiyokuni Miura, Tatsuya Suzuki, Nobuaki Wakamatsu, Masahiro Nagaya

Journal:

Journal of Pediatric Surgery

Year:

2005

Language:

english

File:

PDF, 466 KB

english, 2005

22

Endogenous thiol protease inhibitor from rat liver

Eiki Kominami, Nobuaki Wakamatsu, Nobuhiko Katunuma

Journal:

Biochemical and Biophysical Research Communications

Year:

1981

Language:

english

File:

PDF, 539 KB

english, 1981

23

Stromal fibroblasts are associated with collagen IV in scar tissues of alkali-burned and lacerated corneas

Ishizaki, Masamichi, Shimoda, Mariko, Wakamatsu, Kyoko, Ogro, Tatsuo, Yamanaka, Nobuaki, Kao, Candace W.-C., Kao, Winston W.-Y.

Journal:

Current Eye Research

Year:

1997

Language:

english

File:

PDF, 1.03 MB

english, 1997

24

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy

Yasushi Ishida, Asako Ishimaru, Hisamichi Tauchi, Akiko Yamaguchi, Masayoshi Yokoyama, Kazuhiro Hiroi, Nobuaki Wakamatsu, Yasukazu Yamada

Journal:

European Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 108 KB

english, 2008

25

Missense and Nonsense Mutations in the Lysosomal α-Mannosidase Gene (MANB) in Severe and Mild Forms of α-Mannosidosis

Yasuo Gotoda, Nobuaki Wakamatsu, Hisaomi Kawai, Yoshihiko Nishida, Toshio Matsumoto

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 521 KB

english, 1998

26

De novo inbred heterozygous Zeb2/Sip1 mutant mice uniquely generated by germ-line conditional knockout exhibit craniofacial, callosal and behavioral defects associated with Mowat–Wilson syndrome

Takagi, Tsuyoshi, Nishizaki, Yuriko, Matsui, Fumiko, Wakamatsu, Nobuaki, Higashi, Yujiro

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.02 MB

english, 2015

27

Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardation

Kenichiro Yamada, Daisuke Fukushi, Takao Ono, Yoko Kondo, Reiko Kimura, Noriko Nomura, Ken-jiro Kosaki, Yasukazu Yamada, Seiji Mizuno, Nobuaki Wakamatsu

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 358 KB

english, 2010

28

Mutations of zinc finger E-box binding homeobox 2 (ZEB2) leading to develop connecting tissue disorder similar to Ehlers–Danlos syndrome

Teraishi, Mika, Takaishi, Mikiro, Nakajima, Kimiko, Mizuno, Seiji, Hiraki, Yoko, Fukada, Toshiyuki, Shimoda, Shinji, Asada, Yoshinobu, Wakamatsu, Nobuaki, Furukawa, Takahisa, Sano, Shigetoshi

Journal:

Journal of Dermatological Science

Year:

2016

Language:

english

File:

PDF, 48 KB

english, 2016

29

Isolation of a cDNA Encoding Human Holocarboxylase Synthetase by Functional Complementation of a Biotin Auxotroph of Escherichia coli

Alfonso León-Del-Rio , Daniel Leclerc, Beverly Akerman, Nobuaki Wakamatsu and Roy A. Gravel

Journal:

Proceedings of the National Academy of Sciences

Year:

1995

Language:

english

File:

PDF, 390 KB

english, 1995

30

Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter

Fukushi, Daisuke, Kurosawa, Kenji, Suzuki, Yasuyo, Suzuki, Kaoru, Yamada, Kenichiro, Watanabe, Seiji, Yokochi, Kenji, Wakamatsu, Nobuaki

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 2.42 MB

english, 2017

31

Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene

Margherita Silengo, Giovanni Battista Ferrero, Nobuaki Wakamatsu

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 26 KB

english, 2004

32

Clinical features of a form of Hirschsprung's disease caused by a novel genetic abnormality

Masahiro Nagaya, Junji Kato, Norihiro Niimi, Shuiti Tanaka, Nobuaki Wakamatsu

Journal:

Journal of Pediatric Surgery

Year:

2002

Language:

english

File:

PDF, 143 KB

english, 2002

33

Disruption of the Hypoxanthine-Guanine Phosphoribosyl-Transferase Gene Caused by a Translocation in a Patient with Lesch—Nyhan Syndrome

Makiko Mizunuma, Yasukazu Yamada, Kenichiro Yamada, Shin-Ichi Sonta, Nobuaki Wakamatsu, Kiyoko Kaneko, Nobuaki Ogasawara, Shin Fujimori

Journal:

Year:

2005

File:

PDF, 9 KB

2005

34

Amino acid sequence of rat liver thiol proteinase inhibitor

Koji Takio, Eiki Kominami, Nobuaki Wakamatsu, Nobuhiko Katunuma, Koiti Titani

Journal:

Biochemical and Biophysical Research Communications

Year:

1983

Language:

english

File:

PDF, 335 KB

english, 1983

35

Structural Organization, Sequence, and Expression of the Mouse HEXA Gene Encoding the α Subunit of Hexosaminidase A

Nobuaki Wakamatsu, Guylaine Benoit, Anne-Marie Lamhonwah, Zhi-Xin Zhang, Jacquetta M. Trasler, Barbara L. Triggs-Raine, Roy A. Gravel

Journal:

Year:

1994

File:

PDF, 756 KB

1994

36

Disruption of the Hypoxanthine‐Guanine Phosphoribosyl‐Transferase Gene Caused by a Translocation in a Patient with Lesch‐Nyhan Syndrome

Mizunuma, Makiko, Yamada, Yasukazu, Yamada, Kenichiro, Sonta, Shin‐Ichi, Wakamatsu, Nobuaki, Kaneko, Kiyoko, Ogasawara, Nobuaki, Fujimori, Shin

Journal:

Nucleosides Nucleotides & Nucleic Acids

Year:

2004

Language:

english

File:

PDF, 132 KB

english, 2004

37

Molecular analysis of HPRT deficiencies: An update of the spectrum of Asian mutations with novel mutations

Yasukazu Yamada, Noriko Nomura, Kenichiro Yamada, Nobuaki Wakamatsu

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 665 KB

english, 2007

38

The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS)

Suzuki, Yasuyo, Enokido, Yasushi, Yamada, Kenichiro, Inaba, Mie, Kuwata, Kumiko, Hanada, Naoki, Morishita, Tsuyoshi, Mizuno, Seiji, Wakamatsu, Nobuaki

Journal:

Year:

2017

File:

PDF, 3.46 MB

2017

39

A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3

Yasukazu Yamada, Haruko Goto, Nobuaki Wakamatsu, Nobuaki Ogasawara

Journal:

Year:

2001

Language:

english

File:

PDF, 39 KB

english, 2001

40

The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS)

Suzuki, Yasuyo, Enokido, Yasushi, Yamada, Kenichiro, Inaba, Mie, Kuwata, Kumiko, Hanada, Naoki, Morishita, Tsuyoshi, Mizuno, Seiji, Wakamatsu, Nobuaki

Journal:

Year:

2017

Language:

english

File:

PDF, 3.46 MB

english, 2017

41

Clinical and molecular genetic characterization of two female patients harboring Xq27.3q28 deletion with different ratios of X chromosome inactivation

Katoh, Kimiko, Aiba, Kaori, Fukushi, Daisuke, Yoshimura, Jun, Suzuki, Yasuyo, Mitsui, Jun, Morishita, Shinichi, Tuji, Shoji, Yamada, Kenichiro, Wakamatsu, Nobuaki

Journal:

Year:

2020

File:

PDF, 671 KB

2020

42

A wide spectrum of clinical and brain MRI findings in patients withSLC19A3mutations

Kenichiro Yamada, Kiyokuni Miura, Kenju Hara, Motomasa Suzuki, Keiko Nakanishi, Toshiyuki Kumagai, Naoko Ishihara, Yasukazu Yamada, Ryozo Kuwano, Shoji Tsuji, Nobuaki Wakamatsu

Journal:

BMC Medical Genetics

Year:

2010

Language:

english

File:

PDF, 1.05 MB

english, 2010

43

Two mutations remote from an exon/intron junction in the β-hexosaminidase β-subunit gene affect 3’-splice site selection and cause Sandhoff disease

Mutsuko Fujimaru, A. Tanaka, Kyuchul Choeh, Nobuaki Wakamatsu, Hitoshi Sakuraba, Gen Isshiki

Journal:

Year:

1998

Language:

english

File:

PDF, 203 KB

english, 1998

44

Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation

Fukushi, Daisuke, Yamada, Kenichiro, Suzuki, Kaoru, Inaba, Mie, Nomura, Noriko, Suzuki, Yasuyo, Katoh, Kimiko, Mizuno, Seiji, Wakamatsu, Nobuaki

Journal:

Year:

2018

Language:

english

File:

PDF, 731 KB

english, 2018

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски