Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Younghee Kwun"'
Autor:
Aram Yang, Yeon Hee Lee, Soon Young Nam, Yu Ju Jeong, Yechan Kyung, Rimm Huh, Jieun Lee, Younghee Kwun, Sung Yoon Cho, Dong-Kyu Jin
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 20, Iss 1, Pp 40-45 (2015)
PurposePrader-Willi syndrome (PWS) is a well-known genetic disorder, and microdeletion on chromosome 15 is the most common causal mechanism. Several previous studies have suggested that various environmental factors might be related to the pathogenes
Externí odkaz:
https://doaj.org/article/12797dedc87e49cfb2afb12db1e291cb
Autor:
Su Jin Kim, Jieun Lee, Duk-Kyung Kim, I-Seok Kang, MiSun Chang, Dong-Kyu Jin, Sung Yoon Cho, Younghee Kwun, Young Bae Sohn, DooSeok Choi, June Huh, Tsuyoshi Isojima, Sung Won Park
Publikováno v:
Journal of Korean Medical Science
Patients with Marfan syndrome (MFS) presents with primary skeletal manifestations such as tall stature, chest wall abnormality, and scoliosis. These primary skeletal manifestations affect the growth pattern in MFS. Therefore, it is not appropriate to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da95f4cc815dcbc3d5bf80701f26ecdd
http://europepmc.org/articles/PMC4479945
http://europepmc.org/articles/PMC4479945
Autor:
Karn, Wejaphikul, Sung Yoon, Cho, Rimm, Huh, Younghee, Kwun, Jieun, Lee, Chang-Seok, Ki, Dong-Kyu, Jin
Publikováno v:
Annals of clinical and laboratory science. 45(2)
Sotos syndrome is a common genetic overgrowth syndrome caused by a mutation of the NSD1 gene, which is located at chromosome 5q35 and normally encodes a histone methyltransferase protein. The general characteristics of this syndrome include a charact
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6e34661dde84815ed23d25ab0817e6ff
https://pubmed.ncbi.nlm.nih.gov/25887879
https://pubmed.ncbi.nlm.nih.gov/25887879
Autor:
Mi Sun, Chang, Jong Chul, Han, Jieun, Lee, Younghee, Kwun, Rimm, Huh, Chang-Seok, Ki, Changwon, Kee, Sung Yoon, Cho, Dong-Kyu, Jin
Publikováno v:
Annals of clinical and laboratory science. 45(1)
Aniridia is a rare congenital ocular disorder of complete or partial iris hypoplasia. Frequently associated ocular changes include corneal abnormalities, cataract, glaucoma, and foveal hypoplasia. In most cases, aniridia is caused by decreased dosage
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fe1a889496d55f4be4fe1ade9a1b8d6c
https://pubmed.ncbi.nlm.nih.gov/25696017
https://pubmed.ncbi.nlm.nih.gov/25696017
Autor:
Gen Nishimura, Thomas J. Carney, P.V. Asharani, Dong-Kyu Jin, Chang-Seok Ki, Jieun Lee, Noriko Miyake, Rimm Huh, Younghee Kwun, Young Bae Sohn, Geehay Hong, Aritoshi Iida, Naomichi Matsumoto, Ok Hwa Kim, Shiro Ikegawa, Su Jin Kim, Sung Yoon Cho, Sung Won Park
Publikováno v:
Human mutation. 36(2)
Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders that are characterized by susceptibility to bone fractures, and range in severity from a subtle increase in fracture frequency to death in the perinatal period. Most patients h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe7f938938af63a1506aa6e98a138116
https://pubmed.ncbi.nlm.nih.gov/25402547
https://pubmed.ncbi.nlm.nih.gov/25402547
Autor:
Dong-Kyu Jin, Young Bae Sohn, Yeon Joo Yook, Jieun Lee, Yo Kyung Chung, Jong Mun Sohn, Younghee Kwun, Chi Hwa Kim, Ah-Ra Ko, Mi Sun Chang, Jin Young Lee
Publikováno v:
Glycoconjugate journal. 31(4)
Mucopolysaccharidosis II (MPS II, Hunter syndrome; OMIM 309900) is an X-linked lysosomal storage disease caused by a deficiency in the enzyme iduronate-2-sulfatase (IDS), leading to accumulation of glycosaminoglycans (GAGs). For enzyme replacement th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d51b890c3fbb4dcca8cc3a10f8609189
https://pubmed.ncbi.nlm.nih.gov/24781369
https://pubmed.ncbi.nlm.nih.gov/24781369
Publikováno v:
International Journal of Pediatric Endocrinology
Results Korean MFS patients had similar height and weight compared with the general population at birth. However, linear growth curve of Korean MFS after two years of age showed that the 50th percentile of MFS is above the 97th percentile of normal i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f87fb4ec4fe184d41ea1de10e7aa8f8
http://europepmc.org/articles/PMC4429032
http://europepmc.org/articles/PMC4429032
Autor:
Yu Ju Jeong, Aram Yang, Soon Young Nam, Jieun Lee, Rimm Huh, Dong-Kyu Jin, Yechan Kyung, Sung Yoon Cho, Younghee Kwun, Yeonhee Lee
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 20, Iss 1, Pp 40-45 (2015)
Annals of Pediatric Endocrinology & Metabolism
Annals of Pediatric Endocrinology & Metabolism
PURPOSE Prader-Willi syndrome (PWS) is a well-known genetic disorder, and microdeletion on chromosome 15 is the most common causal mechanism. Several previous studies have suggested that various environmental factors might be related to the pathogene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e158a9f0b6ee2ac65b319a977c5f9356
https://doi.org/10.6065/apem.2015.20.1.40
https://doi.org/10.6065/apem.2015.20.1.40
Autor:
Jooyoun Jung, Young Bae Sohn, Mi Sun Chang, Younghee Kwun, Su Jin Kim, Rimm Huh, Sung Yoon Cho, Se Hyun Maeng, Dong-Kyu Jin, Jieun Lee, Sun Ju Han, Sung Won Park, Eun-Kyung Kwon
Publikováno v:
Journal of Korean Medical Science
Hunter syndrome (or mucopolysaccharidosis type II [MPS II]) arises because of a deficiency in the lysosomal enzyme iduronate-2-sulfatase. Short stature is a prominent and consistent feature in MPS II. Enzyme replacement therapy (ERT) with idursulfase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d7dcddd0052e7c1aa3c272087f9d27b
https://doi.org/10.3346/jkms.2014.29.2.254
https://doi.org/10.3346/jkms.2014.29.2.254