Zobrazeno 1 - 10
of 192
pro vyhledávání: '"Ok-Hwa Kim"'
Autor:
Jong Seop Kim, Hyoungseok Jeon, Hyeran Lee, Jung Min Ko, Yonghwan Kim, Murim Choi, Gen Nishimura, Ok-Hwa Kim, Tae-Joon Cho
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-4 (2021)
Abstract An 11-year-old Korean boy presented with short stature, hip dysplasia, radial head dislocation, carpal coalition, genu valgum, and fixed patellar dislocation and was clinically diagnosed with Steel syndrome. Scrutinizing the trio whole-exome
Externí odkaz:
https://doaj.org/article/0a4edcb96a304841b3a2b8dbf70456da
Autor:
Joon Yeon Won, Dayeon Kim, Seon Young Park, Hye Ran Lee, Jong-Seok Lim, Jong Hoon Park, Mi Hyun Song, Hae Ryong Song, Ok-Hwa Kim, Yonghwan Kim, Tae-Joon Cho
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-5 (2019)
Abstract Background X-linked spondyloepiphyseal dysplasia tarda (SEDT-XL) is a skeletal disorder characterized by defective structures of vertebral bodies and/or of epiphyses of the long bones, resulting in moderately short stature and early joint de
Externí odkaz:
https://doaj.org/article/508c09031aa64e9294c0023683fd766a
Autor:
Alice Costantini, Jessica J. Alm, Francesca Tonelli, Helena Valta, Céline Huber, Anh N. Tran, Valentina Daponte, Nadi Kirova, Yong-Uk Kwon, Jung Yun Bae, Woo Yeong Chung, Shengjiang Tan, Yves Sznajer, Gen Nishimura, Tuomas Näreoja, Alan J. Warren, Valérie Cormier-Daire, Ok-Hwa Kim, Antonella Forlino, Tae-Joon Cho, Outi Mäkitie
Publikováno v:
Bone Reports, Vol 13, Iss , Pp 100647- (2020)
Externí odkaz:
https://doaj.org/article/82391d474b4843248d0f88dd26afa5d1
Autor:
Zheng Wang, Aritoshi Iida, Noriko Miyake, Koji M Nishiguchi, Kosuke Fujita, Toru Nakazawa, Abdulrahman Alswaid, Mohammed A Albalwi, Ok-Hwa Kim, Tae-Joon Cho, Gye-Yeon Lim, Bertrand Isidor, Albert David, Cecilie F Rustad, Else Merckoll, Jostein Westvik, Eva-Lena Stattin, Giedre Grigelioniene, Ikuyo Kou, Masahiro Nakajima, Hirohumi Ohashi, Sarah Smithson, Naomichi Matsumoto, Gen Nishimura, Shiro Ikegawa
Publikováno v:
PLoS ONE, Vol 11, Iss 3, p e0150555 (2016)
Axial spondylometaphyseal dysplasia (axial SMD) is an autosomal recessive disease characterized by dysplasia of axial skeleton and retinal dystrophy. We conducted whole exome sequencing and identified C21orf2 (chromosome 21 open reading frame 2) as a
Externí odkaz:
https://doaj.org/article/b6da7a20f1984f7b853b2aabf45cb344
Autor:
Ok Hwa Kim, Gen Nishimura, Hye Ran Lee, Jong Seop Kim, Murim Choi, Jung Min Ko, Tae Joon Cho, Yonghwan Kim, Hyoungseok Jeon
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-4 (2021)
Human Genome Variation
Human Genome Variation
An 11-year-old Korean boy presented with short stature, hip dysplasia, radial head dislocation, carpal coalition, genu valgum, and fixed patellar dislocation and was clinically diagnosed with Steel syndrome. Scrutinizing the trio whole-exome sequenci
Autor:
Outi Mäkitie, Gen Nishimura, Yves Sznajer, Valérie Cormier-Daire, Francesca Tonelli, Tuomas Näreoja, Yong Uk Kwon, Anh Nhi Tran, Valentina Daponte, Ok Hwa Kim, Helena Valta, Tae Joon Cho, Alan J. Warren, Jung Yun Bae, Antonella Forlino, Alice Costantini, Nadi Kirova, Jessica J. Alm, Woo Yeong Chung, Shengjiang Tan, Céline Huber
Publikováno v:
Journal of Bone and Mineral Research
Journal of bone and mineral research, Vol. 36, no. 2, p. 283-297 (2021)
Journal of bone and mineral research, Vol. 36, no. 2, p. 283-297 (2021)
Spondyloepimetaphyseal dysplasias (SEMDs) are a heterogeneous group of disorders with variable growth failure and skeletal impairments affecting the spine and long bone epiphyses and metaphyses. Here we report on four unrelated families with SEMD in
Autor:
Jong-Seok Lim, Joon Yeon Won, Tae Joon Cho, Yonghwan Kim, Seon Young Park, Ok Hwa Kim, Hye Ran Lee, Jong Hoon Park, Mi Hyun Song, Da-Yeon Kim, Hae Ryong Song
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-5 (2019)
BMC Medical Genetics
BMC Medical Genetics
Background X-linked spondyloepiphyseal dysplasia tarda (SEDT-XL) is a skeletal disorder characterized by defective structures of vertebral bodies and/or of epiphyses of the long bones, resulting in moderately short stature and early joint degeneratio
Autor:
Jae Sung Ko, Seong Dong Jeong, Young Bae Sohn, Che Ry Hong, Taekyeong Yoo, Hyeon Ho Kim, Murim Choi, Tae Joon Cho, Nathan T. Wright, Soo Jin Son, Ah-Ra Kim, Boryeong Park, Suk-Won Jin, Ok Hwa Kim, Jun-Dae Kim, Hyoung Jin Kang, Sangmoon Lee, Jung Min Ko, Jawon Lee, Oleksandr Kokhan, Je Kyung Seong, Chang Hoon Shin
Publikováno v:
Blood. 138(21)
Shwachman-Diamond syndrome (SDS; OMIM #260400) is caused by variants in SBDS (Shwachman-Bodian-Diamond syndrome gene), which encodes a protein that plays an important role in ribosome assembly. Recent reports suggest that recessive variants in EFL1 a
Autor:
Tae Joon Cho, Byung Chan Lim, Jin Sook Lee, Ok Hwa Kim, Ki Joong Kim, Seung-Ki Kim, Jong Hee Chae, Joong Gon Kim, Sung-Gyoo Park
Publikováno v:
Journal of Clinical Neurology (Seoul, Korea)
Autor:
Moon Seok Park, In Ho Choi, Alisher J. Yuldashev, Tae Joon Cho, Ok Hwa Kim, Won Joon Yoo, Chang Ho Shin, Yong Sung Kim, Jong Hee Chae, Woo Young Jang
Publikováno v:
Clinics in Orthopedic Surgery
CLINICS IN ORTHOPEDIC SURGERY(9): 1
CLINICS IN ORTHOPEDIC SURGERY(9): 1
Background: Camurati-Engelmann disease (CED) is a rare genetic skeletal disorder characterized by limb pain, muscle emaciation and weakness, and cortical thickening of the diaphysis of long bones. It is caused by mutations in the transforming growth