SNU Open Repository and Archive: Browsing S-Space

Browse

S-Space

Browsing by Subject *Mutation

Jump to a point in the index

Or type in a year

Sort by
In order
Results/Page
Authors/record

Showing results 1 to 24 of 24

Issue Date	Title / Author(s) / Citation	File
2002	RET oligonucleotide microarray for the detection of RET mutations in multiple endocrine neoplasia type 2 syndromes Kim, Il-Jin; Kang, Hio Chung; Park, Jae-Hyun; Ku, Ja-Lok; Lee, Jong-Soo; Kwon, Hyuk-Joon; Yoon, Kyong-Ah; Heo, Seung Chul; Yang, Hee-Young; Cho, Bo Youn; Kim, Seong Yeon; Oh, Seung Keun; Youn, Yeo-Kyu; Park, Do-Jun; Lee, Myung-Shik; Lee, Kwang-Woo; Park, Jae-Gahb Clin. Cancer Res. 8: 457-463	link
2002	Mutation analysis of the PIG-A gene in Korean patients with paroxysmal nocturnal haemoglobinuria Yoon, J H; Cho, H I; Park, S S; Chang, Y H; Kim, B K J Clin Pathol 2002;55:410-3	link
2005	Somatic mutations of EGFR gene in squamous cell carcinoma of the head and neck Lee, Jong Woo; Soung, Young Hwa; Kim, Su Young; Nam, Hyo Kyung; Park, Won Sang; Nam, Suk Woo; Kim, Min Sik; Sun, Dong Il; Lee, Youn Soo; Jang, Ja June; Lee, Jung Young; Yoo, Nam Jin; Lee, Sug Hyung Clin Cancer Res 2005;11:2879-82.	link
2005	Prevalence of naturally occurring surface antigen variants of hepatitis B virus in Korean patients infected chronically Song, Byung-Cheol; Kim, Sun-Hyun; Kim, Hong; Ying, Yuan-Hai; Kim, Hyun-Ju; Kim, Yoon-Jun; Yoon, Jung-Hwan; Lee, Hyo-Suk; Cha, Chang-Yong; Kook, Yoon-Hoh; Kim, Bum-Joon J Med Virol. 2005 Jun;76(2):194-202.	link
2005	Mutational analysis of idiopathic renal hypouricemia in Korea Cheong, Hae Il; Kang, Ju Hyung; Lee, Joo Hoon; Ha, Il Soo; Kim, Suhnggwon; Komoda, Fusako; Sekine, Takashi; Igarashi, Takashi; Choi, Yong Pediatr Nephrol. 2005 Jul;20(7):886-90. Epub 2005 May 24.	link
2005	Familial hypomagnesemia with hypercalciuria and nephrocalcinosis associated with CLDN16 mutations Kang, Ju Hyung; Choi, Hyun Jin; Cho, Hee Yeon; Lee, Joo Hoon; Ha, Il Soo; Cheong, Hae Il; Choi, Yong Pediatr Nephrol. 2005 Oct;20(10):1490-3. Epub 2005 Jul 27.	link
2005	Mutation spectrum of the APC gene in 83 Korean FAP families Kim, Duck-Woo; Kim, Il-Jin; Kang, Hio Chung; Park, Hye-Won; Shin, Yong; Park, Jae-Hyun; Jang, Sang-Geun; Yoo, Byong Chul; Lee, Min Ro; Hong, Chang Won; Park, Kyu Joo; Oh, Nahm-Gun; Kim, Nam Kyu; Sung, Moo Kyung; Lee, Bong Wha; Kim, Young Jin; Lee, Hyucksang; Park, Jae-Gahb Hum Mutat. 2005 Sep;26(3):281	link
2006	A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva Shore, Eileen M; Xu, Meiqi; Feldman, George J; Fenstermacher, David A; Cho, Tae-Joon; Choi, In Ho; Connor, J Michael; Delai, Patricia; Glaser, David L; LeMerrer, Martine; Morhart, Rolf; Rogers, John G; Smith, Roger; Triffitt, James T; Urtizberea, J Andoni; Zasloff, Michael; Brown, Matthew A; Kaplan, Frederick S Nat. Genet. 38, 525-527	link
2006	Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype Kim, Hyo-Jin; Nam, Soon-Hyeun; Kim, Hyun-Jung; Park, Hyo-Sang; Ryoo, Hyun-Mo; Kim, Shin-Yoon; Cho, Tae-Joon; Kim, Seung-Gon; Bae, Suk-Chul; Kim, In-San; Stein, Janet L.; van Wijnen, Andre J.; Stein, Gary S.; Lian, Jane B.; Choi, Je-Yong J Cell Physiol 207:114-122	link
2006	Exogenous 8-oxo-dG is not utilized for nucleotide synthesis but enhances the accumulation of 8-oxo-Gua in DNA through error-prone DNA synthesis Kim, Ja-Eun; Hyun, Jin-Won; Hayakawa, Hiroshi; Choi, Seongwon; Choi, Jinhee; Chung, Myung-Hee Mutation Research 596 (2006) 128–136	link
2006	Two cases of isolated diffuse mesangial sclerosis with WT1 mutations Hahn, Hyewon; Cho, Young Mi; Park, Young Seo; You, Han Wook; Cheong, Hae Il J Korean Med Sci. 2006 Feb;21(1):160-4.	view file link
2006	Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex Choi, Ji-Eun; Chae, Jong-Hee; Hwang, Yong-Seung; Kim, Ki-Joong Brain Dev. 2006 Aug;28(7):440-6. Epub 2006 Mar 22.	link
2006	CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer Weisenberger, D J; Siegmund, K D; Campan, M; Young, J; Long, T I; Faasse, M A; Kang, G H; Widschwendter, M; Weener, D; Buchanan, D; Koh, H; Simms, S; Barker, M; Leggett, B; Levine, J; Kim, M J; French, A J; Thibodeau, S N; Jass, F; Haile, R; Laird, P W Nat. Genet. 38(7), 787-793 (2006).	DOI
2006	Establishment and characterization of cell lines from three human thyroid carcinomas: responses to all-trans-retinoic acid and mutations in the BRAF gene Koh, Chang-Soon; Ku, Ja-Lok; Park, So-Yeon; Kim, Kyung-Hee; Choi, Jin-Sung; Kim, Il-Jin; Park, Jae-Hyun; Oh, Seung Keun; Chung, June-Key; Lee, Jae-Ho; Kim, Woo Ho; Kim, Chul Woo; Cho, Bo Youn; Park, Jae-Gahb Mol. Cell Endocrinol. 2007;264(1-2),118-27	link
2007	Molecular genetic study of congenital nephrogenic diabetes insipidus and rescue of mutant vasopressin V2 receptor by chemical chaperones Cheong, Hae Il; Cho, Hee Yeon; Park, Hye Won; Ha, Il Soo; Choi, Yong Nephrology (Carlton). 2007 Apr;12(2):113-7.	link
2007	A clinico-genetic study of renal coloboma syndrome in children Cheong, Hae Il; Cho, Hee Yeon; Kim, Jeong Hun; Yu, Young Suk; Ha, Il Soo; Choi, Yong Pediatr Nephrol. 2007 Sep;22(9):1283-9. Epub 2007 May 31.	link
2007	ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism Lee, J. Y.; Gollamudi, S.; Ozelius, L. J.; Kim, J. Y.; Jeon, B. S. Mov Disord. 2007 Sep 15;22(12):1808-9.	link
2007	Molecular changes of epidermal growth factor receptor (EGFR) and KRAS and their impact on the clinical outcomes in surgically resected adenocarcinoma of the lung Kim, Young Tae; Kim, Tae-You; Lee, Dong Soon; Park, Sun Jung; Park, Ju-Yeon; Seo, Soon-Jung; Choi, Hyo-Seon; Kang, Hee Jung; Hahn, Seokyung; Kang, Chang Hyun; Sung, Sook Whan; Kim, Joo Hyun Lung Cancer. 2008 Jan;59(1):111-8. Epub 2007 Sep 29.	link
2007	Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome Chae, Jong Hee; Kim, Ki Joong; Hwang, Yong Seung; Ki, Chang-Seok; Kim, Jong-Won J Child Neurol. 2007 Nov;22(11):1297-300.	link
2008	A case of Shwachman-Diamond syndrome confirmed with genetic analysis in a Korean child Lee, Jeong Hee; Bae, Sun Hwan; Yu, Jeong Jin; Lee, Ran; Yun, Yeo Min; Song, Eun Young J Korean Med Sci. 2008 Feb;23(1):142-5.	view file link
2008	Hepatitis B virus X mutations occurring naturally associated with clinical severity of liver disease among Korean patients with chronic genotype C infection Kim, Hyun-Ju; Park, Joo-Hee; Jee, Youngmee; Lee, Seoung-Ae; Kim, Hong; Song, Byung-Cheol; Yang, Soohyun; Lee, Myunghee; Yoon, Jung-Hwan; Kim, Yoon Jun; Lee, Hyo-Suk; Hwang, Eung-Soo; Kook, Yoon-Hoh; Kim, Bum-Joon J Med Virol. 80(8):1337-1343	link
2008	DHPLC analysis of adenomatous polyposis coli (APC) mutations using ready-to-use APC plates: simple detection of multiple base pair deletion mutations Kim, Il-Jin; Kim, Kun; Kang, Hio Chung; Jang, Sang-Geun; Park, Jae-Gahb Genet Test. 12(2):295-298	link
2008	Sorafenib potently inhibits papillary thyroid carcinomas harboring RET/PTC1 rearrangement Henderson, Ying C.; Ahn, Soon-Hyun; Kang, Ya'an; Clayman, Gary L. Clin Cancer Res. 2008 ;14(15):4908-14.	link
2008	Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjects Lee, Joo Hoon; Choi, Hyun Jin; Lee, Beom Hee; Kang, Hee Kyung; Chin, Ho Jun; Yoon, Hyung Jin; Ha, Il Soo; Kim, Suhnggwon; Choi, Yong; Cheong, Hae Il Nephrology (Carlton). 2008; 13(8): 661-666	link

RSS 1.0 RSS 2.0 Atom

Seoul National University Library, 1 Gwanak-ro, Gwanak-gu, Seoul 08826, Korea TEL: 02-880-5567 Email: s-space@snu.ac.kr