Ok-Hwa Kim

Ok-Hwa Kim

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Ok-Hwa Kim

Ok-Hwa Kim

Publications by authors named "Ok-Hwa Kim"

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Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

J Hum Genet 2019 Sep 17. Epub 2019 Sep 17.

Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0667-4DOI Listing
September 2019

A Case of Familial Spondyloenchondrodysplasia with Immune Dysregulation Masquerading as Moyamoya Syndrome.

J Clin Neurol 2019 Jul;15(3):407-409

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3988/jcn.2019.15.3.407DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6620444PMC
July 2019

Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases.

BMC Med Genet 2019 05 3;20(1):70. Epub 2019 May 3.

Division of Pediatric Orthopaedics, Seoul National University Children's Hospital, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea.

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http://dx.doi.org/10.1186/s12881-019-0802-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6500034PMC
May 2019

Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy.

Brain Dev 2017 Oct 28;39(9):799-803. Epub 2017 Jun 28.

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2017.04.020DOI Listing
October 2017

Autosomal dominant brachyolmia: transient metaphyseal striations.

Skeletal Radiol 2017 Sep 10;46(9):1297-1300. Epub 2017 Jun 10.

Department of Orthopaedic Surgery, Yonsei University College of Medicine, Severance Children's Hospital, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, 03722, South Korea.

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http://dx.doi.org/10.1007/s00256-017-2684-8DOI Listing
September 2017

Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.

Am J Med Genet A 2017 Mar 27;173(3):588-595. Epub 2017 Jan 27.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1002/ajmg.a.38064DOI Listing
March 2017

Orthopedic Manifestations of Type I Camurati-Engelmann Disease.

Clin Orthop Surg 2017 Mar 13;9(1):109-115. Epub 2017 Feb 13.

Division of Pediatric Orthopedics, Seoul National University Children's Hospital, Seoul, Korea.

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http://dx.doi.org/10.4055/cios.2017.9.1.109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5334020PMC
March 2017

Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment.

Ann Lab Med 2017 Jan;37(1):92-94

Department of Pediatrics, Myongji Hospital, Seonam University College of Medicine, Goyang, Korea.

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http://dx.doi.org/10.3343/alm.2017.37.1.92DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5107629PMC
January 2017

Ultrasonographic findings of the various diseases presenting as calf pain.

Clin Imaging 2016 Jan-Feb;40(1):1-12. Epub 2015 Sep 24.

Department of Radiology, University of Michigan Medical Center, MI, US.

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http://dx.doi.org/10.1016/j.clinimag.2015.09.015DOI Listing
August 2016

SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation.

J Hum Genet 2016 Jun 21;61(6):561-4. Epub 2016 Jan 21.

Department of Orthopaedic Surgery, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1038/jhg.2015.174DOI Listing
June 2016

Identification of the Mutations in the Prostaglandin Transporter Gene, SLCO2A1 and Clinical Characterization in Korean Patients with Pachydermoperiostosis.

J Korean Med Sci 2016 May 22;31(5):735-42. Epub 2016 Mar 22.

Department of Internal Medicine, Endocrine Research Institute, Yonsei University College of Medicine, Seoul, Korea .

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http://dx.doi.org/10.3346/jkms.2016.31.5.735DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4835599PMC
May 2016

First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review.

Ann Clin Lab Sci 2016 May;46(3):302-7

Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

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May 2016

Subcutaneous intravascular papillary endothelial hyperplasia: ultrasound features and pathological correlation.

Skeletal Radiol 2016 Feb 12;45(2):227-33. Epub 2015 Nov 12.

Department of Radiology, Daegu Catholic University Medical Center, Daegu, Republic of Korea.

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http://dx.doi.org/10.1007/s00256-015-2281-7DOI Listing
February 2016

Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports.

Am J Med Genet A 2016 Feb 14;170A(2):426-434. Epub 2015 Nov 14.

Division of Pediatric Orthopaedics, Seoul National University Children's Hospital, Seoul, Republic of Korea.

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http://dx.doi.org/10.1002/ajmg.a.37463DOI Listing
February 2016

Enhancing patterns of breast cancer on preoperative dynamic contrast-enhanced magnetic resonance imaging and resection margin in breast conserving therapy.

Breast Dis 2016 Feb;36(1):27-35

Department of Surgery, Haeundae Paik Hospital, College of Medicine, Inje University, Busan, Korea.

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http://dx.doi.org/10.3233/BD-150195DOI Listing
February 2016

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

Orphanet J Rare Dis 2016 Jan 4;11. Epub 2016 Jan 4.

Department of Paediatrics and Department of Clinical and Experimental Medicine, Linköping University, Norrköping, Sweden.

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http://dx.doi.org/10.1186/s13023-015-0380-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4700746PMC
January 2016

Low-dose CT for patients with clinically suspected acute appendicitis: optimal strength of sinogram affirmed iterative reconstruction for image quality and diagnostic performance.

Acta Radiol 2015 Aug 12;56(8):899-907. Epub 2014 Aug 12.

Department of Radiology, Inje University College of Medicine, Haeundae Paik Hospital, Busan, Republic of Korea.

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http://dx.doi.org/10.1177/0284185114542297DOI Listing
August 2015

Detection of an accidentally implanted wooden foreign body using CT: case report and literature review.

Clin Imaging 2015 Jan-Feb;39(1):158-60. Epub 2014 Aug 12.

Department of Surgery, Inje University Haeundae Paik Hospital, College of Medicine, 875, Haeundae-ro, Haeundae-gu, Busan, 612-896, Republic of Korea.

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http://dx.doi.org/10.1016/j.clinimag.2014.08.001DOI Listing
June 2015

Fibromatosis associated with silicone breast implant: ultrasonography and MR imaging findings.

Breast J 2014 Nov-Dec;20(6):645-9. Epub 2014 Sep 23.

Department of Radiology, Inje University College of Medicine, Haeundae Paik Hospital, Busan, Korea.

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http://dx.doi.org/10.1111/tbj.12340DOI Listing
June 2015

Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1.

Ann Lab Med 2015 May 1;35(3):387-9. Epub 2015 Apr 1.

Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3343/alm.2015.35.3.387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390715PMC
May 2015

A novel CANT1 mutation in three Indian patients with Desbuquois dysplasia Kim type.

Eur J Med Genet 2015 Feb 5;58(2):105-10. Epub 2014 Dec 5.

Division of Genetics, MAMC Associated Lok Nayak Hospital, New Delhi, India. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.11.006DOI Listing
February 2015

Delaminated tears of the rotator cuff: prevalence, characteristics, and diagnostic accuracy using indirect MR arthrography.

AJR Am J Roentgenol 2015 Feb;204(2):360-6

1 Department of Radiology, College of Medicine, Inje University Busan Paik Hospital, Gaegeum-dong Jin-gu, Busan, Korea 614-735.

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http://www.ajronline.org/doi/10.2214/AJR.14.12555
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http://dx.doi.org/10.2214/AJR.14.12555DOI Listing
February 2015

The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.

J Korean Med Sci 2015 Feb 21;30(2):214-7. Epub 2015 Jan 21.

Department of Radiology, Woorisoa Children's Hospital, Seoul, Korea.

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http://dx.doi.org/10.3346/jkms.2015.30.2.214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4310950PMC
February 2015

Variable phenotypes of multiple synostosis syndrome in patients with novel NOG mutations.

Joint Bone Spine 2014 Dec 17;81(6):533-6. Epub 2014 Sep 17.

Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.jbspin.2014.07.006DOI Listing
December 2014

Sonographic appearances of juvenile fibroadenoma of the breast.

J Ultrasound Med 2014 Nov;33(11):1879-84

Department of Radiology, Haeundae Paik Hospital, Inje University College of Medicine, Busan, Korea (S.J.K., K.H.L., O.H.K., J.H.R., G.B.C.); and Departments of Radiology (Y.M.P., S.J.L., H.J.C., H.W.J.) and Pathology (S.J.J.), Busan Paik Hospital, Inje University College of Medicine, Busan, Korea.

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http://www.jultrasoundmed.org/content/33/11/1879.full.pdf
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http://www.jultrasoundmed.org//cgi/doi/10.7863/ultra.33.11.1
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http://dx.doi.org/10.7863/ultra.33.11.1879DOI Listing
November 2014

Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report.

BMC Musculoskelet Disord 2014 Nov 8;15:371. Epub 2014 Nov 8.

Catholic Genetic Laboratory Center, Seoul St, Mary' Hospital, The Catholic University of Korea, Seoul, Korea.

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http://dx.doi.org/10.1186/1471-2474-15-371DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236474PMC
November 2014

Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2.

Am J Med Genet A 2014 Oct 10;164A(10):2529-34. Epub 2014 Jul 10.

Department of Pediatrics, School of Medicine, Keio University, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36669DOI Listing
October 2014

Desmoplastic fibroma of bone in a toe: radiographic and MRI findings.

Korean J Radiol 2013 Nov-Dec;14(6):963-7. Epub 2013 Nov 5.

Department of Radiology, Inje University, Haeundae Paik Hospital, Busan 612-896, Korea.

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http://dx.doi.org/10.3348/kjr.2013.14.6.963DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3835646PMC
July 2014

Spinal meningeal melanocytoma with benign histology showing leptomeningeal spread: case report.

Korean J Radiol 2013 May-Jun;14(3):470-6. Epub 2013 May 2.

Department of Radiology, Inje University Haeundae Paik Hospital, Busan 612-030, Korea.

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http://dx.doi.org/10.3348/kjr.2013.14.3.470DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3655303PMC
April 2014

Calcifying aponeurotic fibroma: case report with radiographic and MR features.

Korean J Radiol 2014 Jan-Feb;15(1):134-9. Epub 2014 Jan 8.

Department of Pathology, Inje University College of Medicine, Haeundae Paik Hospital, Busan 612-896, Korea.

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http://dx.doi.org/10.3348/kjr.2014.15.1.134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3909846PMC
April 2014

Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.

Am J Med Genet A 2014 Jan 20;164A(1):156-63. Epub 2013 Nov 20.

Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36218DOI Listing
January 2014

An interstitial, apparently-balanced chromosomal insertion in the etiology of Langer-Giedion syndrome in an Asian family.

Eur J Med Genet 2013 Oct 5;56(10):561-5. Epub 2013 Jul 5.

Department of Biomedical Sciences, Seoul National University Graduate School, Seoul 110-799, Republic of Korea.

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http://dx.doi.org/10.1016/j.ejmg.2013.06.011DOI Listing
October 2013

Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients.

Am J Med Genet A 2013 Aug 26;161A(8):1972-9. Epub 2013 Jun 26.

Department of Radiology, Ajou University Medical School, Suwon, Republic of Korea.

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http://dx.doi.org/10.1002/ajmg.a.36024DOI Listing
August 2013

Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement.

Ann Lab Med 2013 Mar 21;33(2):150-2. Epub 2013 Feb 21.

Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.

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http://dx.doi.org/10.3343/alm.2013.33.2.150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3589643PMC
March 2013

Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients.

Skeletal Radiol 2012 Nov 26;41(11):1479-87. Epub 2012 May 26.

Department of Radiology, Inje University Pusan Paik Hospital, Pusan, Korea.

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http://dx.doi.org/10.1007/s00256-012-1442-1DOI Listing
November 2012

PAPSS2 mutations cause autosomal recessive brachyolmia.

J Med Genet 2012 Aug 11;49(8):533-8. Epub 2012 Jul 11.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1136/jmedgenet-2012-101039DOI Listing
August 2012

The effectiveness of continuing group psychotherapy for outpatients with alcohol dependence: 77-month outcomes.

Alcohol Clin Exp Res 2012 Apr 26;36(4):686-92. Epub 2011 Sep 26.

Department of Neuropsychiatry, Hangang Sacred Heart Hospital, Hallym University, Seoul, Korea.

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http://dx.doi.org/10.1111/j.1530-0277.2011.01643.xDOI Listing
April 2012

Effect of zoledronic acid on acro-osteolysis and osteoporosis in a patient with Hajdu-Cheney syndrome.

Yonsei Med J 2011 May;52(3):543-6

Department of Internal Medicine, Yonsei University College of Medicine, Seodaemun-gu, Seoul 102-752, Korea.

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http://dx.doi.org/10.3349/ymj.2011.52.3.543DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3101052PMC
May 2011

Comparison of clinico-radiological features between congenital cystic neuroblastoma and neonatal adrenal hemorrhagic pseudocyst.

Korean J Radiol 2011 Jan-Feb;12(1):52-8. Epub 2011 Jan 3.

Department of Radiology and Center for Imaging Science, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea.

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http://dx.doi.org/10.3348/kjr.2011.12.1.52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3017884PMC
April 2011

Pulmonary manifestations in Proteus syndrome: pulmonary varicosities and bullous lung disease.

Am J Med Genet A 2011 Apr 15;155A(4):865-9. Epub 2011 Mar 15.

Department of Radiology, St. Mary's Hospital, Catholic University, Seoul, South Korea.

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http://dx.doi.org/10.1002/ajmg.a.33926DOI Listing
April 2011

A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.

J Hum Genet 2010 Nov 19;55(11):764-6. Epub 2010 Aug 19.

Department of Medical Genetics, School of Medicine, Ajou University, Suwon, Korea.

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http://dx.doi.org/10.1038/jhg.2010.102DOI Listing
November 2010

TRPV4-pathy, a novel channelopathy affecting diverse systems.

J Hum Genet 2010 Jul 27;55(7):400-2. Epub 2010 May 27.

Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Tokyo, Japan.

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http://dx.doi.org/10.1038/jhg.2010.37DOI Listing
July 2010

Carcinoma mixed within milk of calcium in a breast: a case report.

Korean J Radiol 2008 Jul;9 Suppl:S7-9

Department of Radiology, Inje University College of Medicine, Busan, Korea.

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http://dx.doi.org/10.3348/kjr.2008.9.s.s7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2627184PMC
July 2008

Imaging features of gastrointestinal tract duplications in infants and children: from oesophagus to rectum.

Pediatr Radiol 2007 Jul 31;37(7):691-9. Epub 2007 May 31.

Department of Diagnostic Radiology and Research Institute of Radiological Science, Yonsei University College of Medicine, Seoul 135-270, South Korea.

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http://dx.doi.org/10.1007/s00247-007-0476-3DOI Listing
July 2007

Achondroplasia and enchondromatosis: report of three boys.

Skeletal Radiol 2007 Jun 9;36 Suppl 1:S29-33. Epub 2006 Jun 9.

Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.

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http://dx.doi.org/10.1007/s00256-006-0161-xDOI Listing
June 2007

Ischiospinal dysostosis with cystic kidney disease: report of two cases.

Clin Dysmorphol 2003 Apr;12(2):101-4

Japanese Skeletal Dysplasia Consortium, Tokyo, Japan.

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http://dx.doi.org/10.1097/01.mcd.0000058254.06646.16DOI Listing
April 2003