Clinical Utility Gene Card for: campomelic dysplasia

Por Scherer, Gerd, Zabel, Bernhard, Nishimura, Gen
Publicado em 2013

Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1

Por Takagi, Masaki, Matsushita, Mitsuru, Nishimura, Gen, Hasegawa, Tomonobu
Publicado no Hum Genome Var (2014)

A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver–Russell syndrome

Por Goto, Masahide, Kagami, Masayo, Nishimura, Gen, Yamagata, Takanori
Publicado no Am J Med Genet A (2016)

Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations

Por Goyal, Manisha, Kapoor, Seema, Ikegawa, Shiro, Nishimura, Gen
Publicado no Case Rep Pediatr (2016)

Criteria of radiological diagnosis for neonates with hypochondroplasia

Por Nagasaki, Keisuke, Saito, Tomoko, Takagi, Masaki, Hasegawa, Tomonobu, Nishimura, Gen
Publicado no Int J Pediatr Endocrinol (2015)

A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversity

Por Nakashima, Yasuharu, Sakamoto, Yuma, Nishimura, Gen, Ikegawa, Shiro, Iwamoto, Yukihide
Publicado no Hum Genome Var (2016)

A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1

Por Higuchi, Shinji, Takagi, Masaki, Shimomura, Satoshi, Nishimura, Gen, Hasegawa, Yukihiro
Publicado no Clin Pediatr Endocrinol (2016)

Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype

Por Kagami, Masayo, Kato, Fumiko, Matsubara, Keiko, Sato, Tomoko, Nishimura, Gen, Ogata, Tsutomu
Publicado em 2012

A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3

Por Nagahara, Keiko, Harada, Yuki, Futami, Tohru, Takagi, Masaki, Nishimura, Gen, Hasegawa, Yukihiro
Publicado no Clin Pediatr Endocrinol (2016)

A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita

Por Kusano, Chieko, Takagi, Masaki, Hori, Naoaki, Murotsuki, Jun, Nishimura, Gen, Hasegawa, Tomonobu
Publicado no Hum Genome Var (2017)

A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2

Por Takagi, Masaki, Yagi, Hiroko, Nakamura, Yoshie, Shinohara, Hiroyuki, Takeda, Ryojun, Shimada, Aya, Nishimura, Gen, Hasegawa, Yukihiro
Publicado no Clin Pediatr Endocrinol (2015)

A Case Report of Dysosteosclerosis Observed from the Prenatal Period

Por Kobayashi, Kisho, Goto, Yusuke, Kise, Hiroaki, Kanai, Hiroaki, Kodera, Koji, Nishimura, Gen, Ohyama, Kenji, Sugita, Kanji, Komai, Takayuki
Publicado em 2010

Effect of anakinra on arthropathy in CINCA/NOMID syndrome

Por Miyamae, Takako, Inaba, Yutaka, Nishimura, Gen, Kikuchi, Masako, Kishi, Takayuki, Hara, Ryoki, Kaneko, Utako, Shinoki, Toshihiko, Imagawa, Tomoyuki, Yokokta, Shumpei
Publicado em 2010

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

Por Kuchinskaya, Ekaterina, Grigelioniene, Giedre, Hammarsjö, Anna, Lee, Hye-Ran, Högberg, Lotta, Grigelionis, Gintautas, Kim, Ok-Hwa, Nishimura, Gen, Cho, Tae-Joon
Publicado no Orphanet J Rare Dis (2016)

Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia

Por Lausch, Ekkehart, Keppler, Romy, Hilbert, Katja, Cormier-Daire, Valerie, Nikkel, Sarah, Nishimura, Gen, Unger, Sheila, Spranger, Jürgen, Superti-Furga, Andrea, Zabel, Bernhard
Publicado em 2009

Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia

Por Lausch, Ekkehart, Keppler, Romy, Hilbert, Katja, Cormier-Daire, Valerie, Nikkel, Sarah, Nishimura, Gen, Unger, Sheila, Spranger, Jürgen, Superti-Furga, Andrea, Zabel, Bernhard
Publicado em 2009

Genetic Mapping of the Camurati-Engelmann Disease Locus to Chromosome 19q13.1-q13.3

Por Ghadami, Mohsen, Makita, Yoshio, Yoshida, Kunihiro, Nishimura, Gen, Fukushima, Yoshimitsu, Wakui, Keiko, Ikegawa, Shiro, Yamada, Koki, Kondo, Shinji, Niikawa, Norio, Tomita, Hiro-aki
Publicado em 2000

A Novel Mutation in LEPRE1 That Eliminates Only the KDEL ER- Retrieval Sequence Causes Non-Lethal Osteogenesis Imperfecta

Por Takagi, Masaki, Ishii, Tomohiro, Barnes, Aileen M., Weis, MaryAnn, Amano, Naoko, Tanaka, Mamoru, Fukuzawa, Ryuji, Nishimura, Gen, Eyre, David R., Marini, Joan C., Hasegawa, Tomonobu
Publicado em 2012

The Shwachman–Bodian–Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type

Por Nishimura, Gen, Nakashima, Eiji, Hirose, Yuichiro, Cole, Trevor, Cox, Phillip, Cohn, Daniel H, Rimoin, David L, Lachman, Ralph S, Miyamoto, Yoshinari, Kerr, Bronwyn, Unger, Sheila, Ohashi, Hirofumi, Superti‐Furga, Andrea, Ikegawa, Shiro
Publicado em 2007

Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis

Por Hermanns, Pia, Unger, Sheila, Rossi, Antonio, Perez-Aytes, Antonio, Cortina, Hector, Bonafé, Luisa, Boccone, Loredana, Setzu, Valeria, Dutoit, Michel, Sangiorgi, Luca, Pecora, Fabio, Reicherter, Kerstin, Nishimura, Gen, Spranger, Jürgen, Zabel, Bernhard, Superti-Furga, Andrea
Publicado em 2008