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1

THM-coupled finite element analysis of frozen soil: formulation and application

Gens, A., Nishimura, S., Jardine, R. J., Olivella, S.

Journal:

Year:

2009

Language:

english

File:

PDF, 425 KB

english, 2009

2

Craniotubular dysplasia with severe postnatal growth retardation, mental retardation, ectodermal dysplasia, and loose skin: Lenz-Majewski-Like syndrome

Nishimura, Gen, Harigaya, Akira, Kuwashima, Makoto, Kuwashima, Shigeko

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 876 KB

english, 1997

3

Skeletal ciliopathies: a pattern recognition approach

Handa, Atsuhiko, Voss, Ulrika, Hammarsjö, Anna, Grigelioniene, Giedre, Nishimura, Gen

Journal:

Japanese Journal of Radiology

Year:

2020

File:

PDF, 2.25 MB

2020

4

Intractable Apneic Spells Due to Hypoplasia of the Atlas in a Patient With Unclassifiable Short-Rib Dysplasia

Inomata, Naoko, Hoshino, Rikuo, Nishimura, Gen

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 169 KB

english, 1998

5

Nosology and classification of genetic skeletal disorders: 2010 revision

Matthew L. Warman, Valerie Cormier-Daire, Christine Hall, Deborah Krakow, Ralph Lachman, Martine LeMerrer, Geert Mortier, Stefan Mundlos, Gen Nishimura, David L. Rimoin, Stephen Robertson, Ravi Savari

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 180 KB

english, 2011

6

Heterozygous C-propeptide mutations in COL1A1: Osteogenesis imperfecta type IIC and dense bone variant

Masaki Takagi, Naoaki Hori, Yasutsugu Chinen, Kenji Kurosawa, Yukichi Tanaka, Kikuko Oku, Hitomi Sakata, Ryuji Fukuzawa, Gen Nishimura, Jürgen Spranger, Tomonobu Hasegawa

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 692 KB

english, 2011

7

Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)

Lisenka E.L.M. Vissers, Virginia Fano, Diego Martinelli, Belinda Campos-Xavier, Domenico Barbuti, Tae-Joon Cho, Ahmet Dursun, Ok Hwa Kim, Sun Hee Lee, Giuseppina Timpani, Gen Nishimura, Sheila Unger,

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 518 KB

english, 2011

8

The phenotypic spectrum of COL2A1 mutations

Gen Nishimura, Nobuhiko Haga, Hiroshi Kitoh, Yoko Tanaka, Toru Sonoda, Miho Kitamura, Shuya Shirahama, Taichi Itoh, Eiji Nakashima, Hirofumi Ohashi, Shiro Ikegawa

Journal:

Year:

2005

Language:

english

File:

PDF, 145 KB

english, 2005

9

Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia

Akihiko Mabuchi, Nobuhiko Haga, Koichi Maeda, Eiji Nakashima, Noriyo Manabe, Hisatada Hiraoka, Hiroshi Kitoh, Rika Kosaki, Gen Nishimura, Hirofumi Ohashi, Shiro Ikegawa

Journal:

Year:

2004

Language:

english

File:

PDF, 304 KB

english, 2004

10

Psychological and weight-related characteristics of patients with anorexia nervosa-restricting type who later develop bulimia nervosa

Hiroki Nishimura, Gen Komaki, Tetsuya Ando, Toshihiro Nakahara, Takakazu Oka, Keisuke Kawai, Toshihiko Nagata, Aya Nishizono, Yuri Okamoto, Kenjiro Okabe, Masanori Koide, Chikara Yamaguchi, Satoshi Sa

Journal:

BioPsychoSocial Medicine

Year:

2008

Language:

english

File:

PDF, 253 KB

english, 2008

11

The reliability and validity of the Japanese version of the Levels of Emotional Awareness Scale (LEAS-J)

Tetsuya Igarashi, Gen Komaki, Richard D Lane, Yoshiya Moriguchi, Hiroki Nishimura, Hiromi Arakawa, Motoharu Gondo, Yuri Terasawa, Corbet V Sullivan, Motonari Maeda

Journal:

BioPsychoSocial Medicine

Year:

2011

Language:

english

File:

PDF, 287 KB

english, 2011

12

Study on neutron irradiation effect of superconductors and installation of 15.5 T magnet in hot laboratory at IMR in Tohoku University

Arata Nishimura, Takao Takeuchi, Shigehiro Nishijima, Kentaro Ochiai, Gen Nishijima, Kazuo Watanabe, Minoru Narui, Hiroaki Kurishita, Tatsuo Shikama

Journal:

Journal of Nuclear Materials

Year:

2011

Language:

english

File:

PDF, 291 KB

english, 2011

13

Vertebral osteomyelitis presenting with bilateral pleural effusions in a leprous patient

Tatsuya Shimada, Yoko Nishimura, Gen Kimura, Shiro Eto, Kimio Tomita

Journal:

Diagnostic Microbiology and Infectious Disease

Year:

1996

Language:

english

File:

PDF, 383 KB

english, 1996

14

A neonate with an anomalous bone attached to the cervical spine

Nakano, Yuya, Aizawa, Madoka, Kako, Yuko, Mizuno, Katsumi, Itabashi, Kazuo, Nishimura, Gen

Journal:

The Spine Journal

Year:

2013

Language:

english

File:

PDF, 363 KB

english, 2013

15

Skeletal Features and Growth Patterns in 14 Patients with Haploinsufficiency of SHOX: Implications for the Development of Turner Syndrome

Kosho, Tomoki, Muroya, Koji, Nagai, Toshiro, Fujimoto, Masatoshi, Yokoya, Susumu, Sakamoto, Hiromi, Hirano, Takeki, Terasaki, Hiroshi, Ohashi, Hirofumi, Nishimura, Gen, Sato, Seiji, Matsuo, Nobutake,

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1999

Language:

english

File:

PDF, 2.54 MB

english, 1999

16

Let bone and muscle talk together: a study of real and virtual dissection and its implications for femoral musculoskeletal structure of chimpanzees

Morimoto, Naoki, Suwa, Gen, Nishimura, Takeshi, Ponce de León, Marcia S., Zollikofer, Christoph P. E., Lovejoy, C. Owen, Nakatsukasa, Masato

Journal:

Journal of Anatomy

Year:

2015

Language:

english

File:

PDF, 2.09 MB

english, 2015

17

Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis

Kuchinskaya, Ekaterina, Grigelioniene, Giedre, Hammarsjö, Anna, Lee, Hye-Ran, Högberg, Lotta, Grigelionis, Gintautas, Kim, Ok-Hwa, Nishimura, Gen, Cho, Tae-Joon

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 2.30 MB

english, 2016

18

Nosology and classification of genetic skeletal disorders: 2015 revision

Bonafe, Luisa, Cormier-Daire, Valerie, Hall, Christine, Lachman, Ralph, Mortier, Geert, Mundlos, Stefan, Nishimura, Gen, Sangiorgi, Luca, Savarirayan, Ravi, Sillence, David, Spranger, Jürgen, Superti-

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 134 KB

english, 2015

19

Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome

Imagawa, Eri, Higashimoto, Ken, Sakai, Yasunari, Numakura, Chikahiko, Okamoto, Nobuhiko, Matsunaga, Satoko, Ryo, Akihide, Sato, Yoshinori, Sanefuji, Masafumi, Ihara, Kenji, Takada, Yui, Nishimura, Gen

Journal:

Year:

2017

Language:

english

File:

PDF, 1.50 MB

english, 2017

20

Rigid Occipitocervical Instrumented Fusion for Atlantoaxial Instability in an 18-month-old Toddler with Brachytelephalangic Chondrodysplasia Punctata

Oba, Hiroki, Takahashi, Jun, Takano, Kyoko, Inaba, Yuji, Motobayashi, Mitsuo, Nishimura, Gen, Kuraishi, Shugo, Shimizu, Masayuki, Ikegami, Shota, Futatsugi, Toshimasa, Uehara, Masashi, Kosho, Tomoki,

Journal:

Year:

2017

Language:

english

File:

PDF, 781 KB

english, 2017

21

SPONASTRIME dysplasia: Report on a female patient with severe skeletal changes

Masuno, Mitsuo, Nishimura, Gen, Adachi, Masanori, Hotsubo, Tomoyuki, Tachibana, Katsuhiko, Makita, Yoshio, Imaizumi, Kiyoshi, Kuroki, Yoshikazu

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 427 KB

english, 1996

22

New form of platyspondylic lethal chondrodysplasia

Akaba, Kazuhiro, Nishimura, Gen, Hashimoto, Motoya, Wakabayashi, Takashi, Kanasugi, Hiroshi, Hayasaka, Kiyoshi

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 396 KB

english, 1996

23

Another observation of atypical radiologic findings in achondroplasia not due to a common mutation of the FGFR-3 gene: Reply to Dr. Gorlin

Nishimura, Gen, Takada, Fumio

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 433 KB

english, 1997

24

Multiple, juxtasutural, cranial hyperostoses and cardiac tumor: A new hamartomatous syndrome?

Nishimura, Gen, Nishimura, and Jiro

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 895 KB

english, 1997

25

Atypical skeletal changes in otopalatodigital syndrome type II: Phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome

Nishimurae, Gen, Horiuchi, Takashi, Kim, Ok H., Sasamoto, Yuka

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 463 KB

english, 1997

26

Previously undescribed spondyloepiphyseal dysplasia associated with craniosynostosis, cataracts, cleft palate, and mental retardation: Report of four sibs

Nishimura, Gen, Fukushima, Yoshimitsu, Aihara, Toshinori, Ohashi, Hirofumi, Nishimoto, Hiroshi, Nishimura, Jiro

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 358 KB

english, 1998

27

Hypoplasia of the transverse sinus in oto-palato-digital syndrome type I

Suzumura, Hiroshi, Kano, Ken-ichi, Nishimura, Gen

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 178 KB

english, 1998

28

Another observation of Langer-type sponastrime dysplasia variant

Nishimura, Gen, Mikawa, Makoto, Fukushima, Yoshimitsu

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 180 KB

english, 1998

29

Metaphyseal anadysplasia: Evidence of genetic heterogeneity

Nishimura, Gen, Ikegawa, Shiro, Saga, Takeshi, Nagai, Toshiro, Aya, Misaki, Kawano, Toshio

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 510 KB

english, 1999

30

Young-Simpson syndrome: Further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation

Masuno, Mitsuo, Imaizumi, Kiyoshi, Okada, Toshihisa, Adachi, Masanori, Nishimura, Gen, Ishii, Takuma, Tachibana, Katsuhiko, Kuroki, Yoshikazu

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 123 KB

english, 1999

31

New brittle bone disorder: Report of a family with six affected individuals

Nishimura, Gen, Haga, Nobuhiko, Aoki, Katsuhiko, Hamazaki, Minoru, Taniguchi, Kazuhiko, Iwaya, Tsutomu

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 785 KB

english, 1999

32

Intrafamilial phenotypic variability in Engelmann disease (ED): Are ED and Ribbing disease the same entity?

Makita, Yoshio, Nishimura, Gen, Ikegawa, Shiro, Ishii, Takuma, Ito, Yoshiya, Okuno, Akimasa

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 225 KB

english, 2000

33

Trypsinogen expression and early detection for peritoneal dissemination in gastric cancer

Fujimura, Takashi, Ohta, Tetsuo, Kitagawa, Hirohisa, Fushida, Sachio, Nishimura, Gen-Ichi, Yonemura, Yutaka, Elnemr, Ayman, Miwa, Koichi, Nakanuma, Yasuni

Journal:

Journal of Surgical Oncology

Year:

1998

Language:

english

File:

PDF, 220 KB

english, 1998

34

Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata

Shiro Ikegawa, Hirofumi Ohashi, Tsutomu Ogata, Akira Honda, Masato Tsukahara, Toshihide Kubo, Mamori Kimizuka, Masanori Shimode, Tomonobu Hasegawa, Gen Nishimura, Yusuke Nakamura

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 698 KB

english, 2000

35

Confirmation of genetic homogeneity of syndactyly type 1 in an Iranian family

Mohsen Ghadami, Keyvan Majidzadeh-A, Batool-Sadat Haerian, Elia Damavandi, Koki Yamada, Parvin Pasallar, Mohammad-Taghi Najafi, Gen Nishimura, Hiro-Aki Tomita, Koh-Ichiro Yoshiura, Norio Niikawa

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 202 KB

english, 2001

36

Camurati-Engelmann disease type II: Progressive diaphyseal dysplasia with striations of the bones

Gen Nishimura, Hitoshi Nishimura, Yoko Tanaka, Yoshio Makita, Shiro Ikegawa, Mohsen Ghadami, Akira Kinoshita, Norio Niikawa

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 305 KB

english, 2002

37

Intrafamilial phenotypic variations in cranioectodermal dysplasia: Propositus with typical manifestations and her brother with perinatal death

Shinya Tamai, Masahiro Tojo, Tsutomu Kamimaki, Yuko Sato, Gen Nishimura

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 107 KB

english, 2002

38

Paternal UPD14 is responsible for a distinctive malformation complex

Kenji Kurosawa, Hiroyuki Sasaki, Yoshiaki Sato, Michiko Yamanaka, Mitsumasa Shimizu, Yuji Ito, Torayuki Okuyama, Mari Matsuo, Kiyoshi Imaizumi, Yoshikazu Kuroki, Gen Nishimura

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 206 KB

english, 2002

39

Autopsy case of microcephalic osteodysplastic primordial “dwarfism” type II

Ryuji Fukuzawa, Seiji Sato, Michael J. Sullivan, Gen Nishimura, Tomonobu Hasegawa, Nobutake Matsuo

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 177 KB

english, 2002

40

Oto-palato-digital syndrome, type II: Evidence for defective intramembranous ossification

Tsutomu Ogata, Nobutake Matsuo, Gen Nishimura, Hiroshi Hajikano

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 771 KB

english, 1990

41

Essential osteolysis associated with nephropathy, corneal opacity, and pulmonary stenosis

Osamu Shinohara, Chidori Kubota, Mikio Kimura, Gen Nishimura, Shori Takahashi

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 591 KB

english, 1991

42

Another family with tricho-rhino-phalangeal syndrome type III (Sugio-Kajii syndrome)

Toshiro Nagai, Gen Nishimura, Hideaki Kasai, Tomonobu Hasegawa, Rumiko Kato, Hirofumi Ohashi, Yoshimitu Fukushima

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 313 KB

english, 1994

43

Broad proximal phalanx, facial anomalies, hallux valgus, and bronchomalacia: Additional case

Dr. Yoko Tanaka, Nobutake Matsuo, Gen Nishimura, Toshiro Nagai

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 168 KB

english, 1994

44

Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome

Toshiro Nagai, Gen Nishimura, Rumiko Kato, Tomonobu Hasegawa, Hirofumi Ohashi, Yoshimitu Fukushima

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 283 KB

english, 1995

45

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

46

Propositus with Weaver syndrome and his mildly-affected mother: Implication of nontraditional inheritance?

Gen Nishimura, Tomonobu Hasegawa, Toshiro Nagai

Journal:

American Journal of Medical Genetics Part A

Year:

1996

Language:

english

File:

PDF, 281 KB

english, 1996

47

Microcephalic osteodysplastic primordial short stature type II with cafe-au-lait spots and moyamoya disease

Gen Nishimura, Tomonobu Hasegawa, Motoko Fujino, Naoaki Hori, Yukiharu Tomita

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 79 KB

english, 2003

48

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

49

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

50

Spondyloepiphyseal dysplasia Maroteaux type: Report of three patients from two families and exclusion of type II collagen defects

Gen Nishimura, Rika Kizu, Yoshimaro Kijima, Kiyoshi Sakai, Yoshiharu Kawaguchi, Tomoatsu Kimura, Isao Matsushita, Shuya Shirahama, Toshiyuki Ikeda, Shiro Ikegawa, Tomonobu Hasegawa

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 178 KB

english, 2003