Publications by authors named "Ok Hwa Kim"

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Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3.
Tae-Joon Cho, Hyeran Lee, Jung Min Ko, Mihyun Song, Chang-Ho Shin, Ok-Hwa Kim

Eur J Med Genet· December 2024

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Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome.
Sangmoon Lee, Chang Hoon Shin, Jawon Lee, Seong Dong Jeong, Che Ry Hong, Jun-Dae Kim, Ah-Ra Kim, Ok-Hwa Kim, Hyeon Ho Kim

Blood· November 2021

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Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome.
Jong Seop Kim, Hyoungseok Jeon, Hyeran Lee, Jung Min Ko, Yonghwan Kim, Ok-Hwa Kim

Hum Genome Var· May 2021

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Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.
Alice Costantini, Jessica J Alm, Francesca Tonelli, Helena Valta, Céline Huber, Ok-Hwa Kim

J Bone Miner Res· February 2021

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Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.
Katta M Girisha, Gandham S Bhavani, Hitesh Shah, Amita Moirangthem, Anju Shukla, Ok-Hwa Kim

Am J Med Genet A· February 2020

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Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, Keng Wee Teik, Seiji Mizuno, Kimihiko Oishi, Ok Hwa Kim

J Hum Genet· December 2019

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A Case of Familial Spondyloenchondrodysplasia with Immune Dysregulation Masquerading as Moyamoya Syndrome.
Jin Sook Lee, Byung Chan Lim, Ki Joong Kim, Seung Ki Kim, Ok Hwa Kim, Joong Gon Kim

J Clin Neurol· July 2019

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Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases.
Joon Yeon Won, Dayeon Kim, Seon Young Park, Hye Ran Lee, Jong-Seok Lim, Ok-Hwa Kim, Yonghwan Kim

BMC Med Genet· May 2019

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Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.
Hae Ryung Chang, Sung Yoon Cho, Jae Hoon Lee, Eunkyung Lee, Jieun Seo, Hongtae Kim, Dongsup Kim, Ok-Hwa Kim, Yonghwan Kim

Am J Hum Genet· March 2019

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Regarding Camurati-Engelmann Disease: In Reply.
Alisher J Yuldashev, Chang Ho Shin, Yong Sung Kim, Woo Young Jang, Moon Seok Park, Ok Hwa Kim

Clin Orthop Surg· March 2018

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Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy.
Jin Sook Lee, Jieun Seo, Anna Cho, Byung Chan Lim, Murim Choi, Jung-Wook Kim, Ok-Hwa Kim

Brain Dev· October 2017

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Autosomal dominant brachyolmia: transient metaphyseal striations.
Yun-Jung Lim, Hye-Ran Lee, Ok-Hwa Kim, Tae-Joon Cho, Kun-Bo Park

Skeletal Radiol· September 2017

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Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.
Shahida Moosa, Annette Haagerup, Pernille Axel Gregersen, Karin Kastberg Petersen, Janine Altmüller, Ok-Hwa Kim

Am J Med Genet A· April 2017

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Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.
Smrithi Salian, Tae-Joon Cho, Shubha R Phadke, Kalpana Gowrishankar, Gandham SriLakshmi Bhavani, Ok-Hwa Kim

Am J Med Genet A· March 2017

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Orthopedic Manifestations of Type I Camurati-Engelmann Disease.
Alisher J Yuldashev, Chang Ho Shin, Yong Sung Kim, Woo Young Jang, Moon Seok Park, Ok Hwa Kim

Clin Orthop Surg· March 2017

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Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment.
Hyung Suk Jin, Ho Young Song, Sung Yoon Cho, Chang Seok Ki, Song Hyun Yang, Ok Hwa Kim, Su Jin Kim

Ann Lab Med· January 2017

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Role of Real-Time Elastography in the Evaluation of Cervical Lymph Nodes in Patients with Kikuchi Disease.
Jiyeon Baik, Kwang Hwi Lee, JiHwa Ryu, OkHwa Kim, Jung-Hee Yoon, Seung Ho Kim

Ultrasound Med Biol· September 2016

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Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.
Zheng Wang, Aritoshi Iida, Noriko Miyake, Koji M Nishiguchi, Kosuke Fujita, Ok-Hwa Kim

PLoS One· August 2016

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SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation.
Jung Min Ko, Soyoon Jung, Jieun Seo, Choong Ho Shin, Hae Il Cheong, Ok-Hwa Kim

J Hum Genet· June 2016

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BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.
Sung Yoon Cho, Jun-Seok Bae, Nayoung K D Kim, Francesca Forzano, Katta Mohan Girisha, Dongsup Kim, Ok-Hwa Kim

Am J Hum Genet· June 2016

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Identification of the Mutations in the Prostaglandin Transporter Gene, SLCO2A1 and Clinical Characterization in Korean Patients with Pachydermoperiostosis.
Sihoon Lee, So Young Park, Hyun Jin Kwon, Chul-Ho Lee, Ok-Hwa Kim

J Korean Med Sci· May 2016

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First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review.
Eu Gene Park, Sung Yoon Cho, Jeehun Lee, Jihyun Kim, Heeyeon Cho, Jinsup Kim, Ok-Hwa Kim

Ann Clin Lab Sci· May 2016

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Enhancing patterns of breast cancer on preoperative dynamic contrast-enhanced magnetic resonance imaging and resection margin in breast conserving therapy.
Ok Hwa Kim, Suk Jung Kim, Jung Sun Lee

Breast Dis· February 2016

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Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis.
Ekaterina Kuchinskaya, Giedre Grigelioniene, Anna Hammarsjö, Hye-Ran Lee, Lotta Högberg, Ok-Hwa Kim

Orphanet J Rare Dis· January 2016

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Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.
Beryl Royer-Bertrand, Silvia Castillo-Taucher, Rodrigo Moreno-Salinas, Tae-Joon Cho, Jong-Hee Chae, Ok-Hwa Kim

Sci Rep· November 2015

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