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Contents

(A)De novo proximal 6q deletion confirmed by array comparative genomic hybridization / Kwang-Sook Woo ; Ji-Eun Kim ; Kyung-Eun Kim ; Myo-Jing Kim ; Jae-Ho Yoo ; Hyun-Sook Ahn ; Lisa G. Shaffer ; Jin-Yeong Han 1

[요약] 1

INTRODUCTION 1

CASE REPORT 1

1. Cytogenetic analyses 2

DISCUSSION 2

REFERENCES 4

권호기사

권호기사 목록 테이블로 기사명, 저자명, 페이지, 원문, 기사목차 순으로 되어있습니다.
기사명 저자명 페이지 원문 목차
Prognostic significance of TEL/AML1 rearrangement and its additional genetic changes in Korean childhood precursor B-acute lymphoblastic leukemia Hee Young Chung ;Kyung-Hee Kim ;Kyung Ran Jun ;Seongsoo Jang ;Chan-Jeoung Park ;Hyun-Sook Chi ;Ho Jo pp.1-8

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Evaluation of analytical measurement ranges of three full range C-reactive protein tests using immunoturbidimetric assay Young Jin Lee ;Joong Man Kim ;Do-Sim Park pp.9-16

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HDL cholesterol reduction during rosiglitazone and fenofibrate treatment in a type 2 diabetes mellitus patient with dyslipidemia Mijeong Im ;Minki Kim ;Jin Kyung Lee ;Yoon Hwan Chang ;Dong Young Lee ;Seok-Il Hong ;Yun Yong Lee ;Y pp.17-19

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Comparison of the efficacies of silver-containing dressing materials for treating a full-thickness rodent wound infected by methicillin-resistant Staphylococcus aureus Jong Hoon Lee ;Jeong Don Chae ;Dong Gu Kim ;Sung Hee Hong ;Won Mi Lee ;Moran Ki pp.20-27

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Antimicrobial susceptibility patterns of Legionella isolates in the environment and in patients Go Eun Choi ;Jeong Eun Kang ;Eun Yup Lee ;Chulhun L. Chang ;Kazuhiro Tateda ;Keizo Yamaguchi ;Kyeong pp.28-33

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(A)Report of cat scratch disease in Korea confirmed by PCR amplification of the 16S-23S rRNA intergenic region of Bartonella henselae Borum Suh ;Jin-Kyoung Chun ;Dongeun Yong ;Yang Soon Lee ;Seok Hoon Jeong ;Woo Ick Yang ;Dong Soo Kim pp.34-37

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Prevalence and clinical associations of lupus anticoagulant, anticardiolipin antibodies, and anti-beta2-glycoprotein Ⅰ antibodies in patients with systemic lupus erythematosus Kwang-Sook Woo ;Kyung-Eun Kim ;Jeong Man Kim ;Jin-Yeong Han ;Won-Tae Chung ;Kyeong-Hee Kim pp.38-44

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Evaluation of the virus-elimination efficacy of nanofiltration (Viresolve NFP) for the parvovirus B19 and hepatitis A virus Deok Ja Oh ;Yoo La Lee ;Jae Won Kang ;So Yong Kwon ;Nam Sun Cho ;In Seop Kim pp.45-50

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(The)Relationship between Lewis/Secretor genotypes and serum carbohydrate antigen 19-9 levels in a Korean population Hyung-Doo Park ;Kyoung Un Park ;Junghan Song ;Chang-Seok Ki ;Kyou Sup Han ;Jin Q Kim pp.51-57

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Investigation of the prevalence of human parvovirus B19 DNA in Korean plasmapheresis donors Deok Ja Oh ;Yoo La Lee ;Jae Won Kang ;So Yong Kwon ;Nam Sun Cho pp.58-64

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(The)M142T mutation causes B₃ phenotype :three cases and an in vitro expression study Duck Cho ;Dong-Jun Shin ;Mark Harris Yazer ;Chun-Hwa Ihm ;Young-Moon Hur ;Seung-Jung Kee ;Soo-Hyun K pp.65-69

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Identification of a novel deletion region in 3 q29 Microdeletion syndrome by oligonucleotide comparative genomic hybridization Eul-Ju Seo ;Kyung Ran Jun ;Han-Wook Yoo ;Hanik K. Yoo ;Jin-Ok Lee pp.70-75

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Estrogen receptor 1, glutathione S-transferase P1, glutathione S-transferase M1, and glutathione S-transferase T1 genes with dysmenorrhea in Korean female adolescents Hee-Yeon Woo ;Kye-Hyun Kim ;Se-Won Lim pp.76-83

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(A)De novo proximal 6q deletion confirmed by array comparative genomic hybridization Kwang-Sook Woo ;Ji-Eun Kim ;Kyung-Eun Kim ;Myo-Jing Kim ;Jae-Ho Yoo ;Hyun-Sook Ahn ;Lisa G. Shaffer pp.84-88

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Recombinant chromosome 4 with partial 4p deletion and 4q duplication inherited from paternal pericentric inversion Se Jin Mun ;Eun Hae Cho ;Myoung-Jae Chey ;Gyu-Hong Shim ;Bo-Moon Shin ;Rae-Kyung Lee ;Ji-Kyung Ko ;S pp.89-92

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Determination of SMN1 and SMN2 copy numbers in a Korean population using multiplex ligation-dependent probe amplification Seoyoung Yoon ;Chang Hoon Lee ;Kyung-A Lee pp.93-96

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참고문헌 (25건) : 자료제공( 네이버학술정보 )

참고문헌 목록에 대한 테이블로 번호, 참고문헌, 국회도서관 소장유무로 구성되어 있습니다.
번호 참고문헌 국회도서관 소장유무
1 Deletion of the Long Arm of Chromosome 6 Associated with Arachnoid Cyst and Brain Atropy 네이버 미소장
2 New insights into the phenotypes of 6q deletions. 네이버 미소장
3 (6;15) Translocation with loss of chromosome material in the patient and various chromosome aberrations in family members. 네이버 미소장
4 Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH. 네이버 미소장
5 Proximal 6q interstitial deletion without severe mental retardation. 네이버 미소장
6 Congenital anomalies including the VATER association in a patient with del(6)q deletion. 네이버 미소장
7 Deletions of the long arm of chromosome 6: two new cases and review of the literature. 네이버 미소장
8 Deletion of proximal 6q: a clinical report and review of the literature. 네이버 미소장
9 Interstitial deletion (6) (q11----q15) in an infant with congenital abnormalities. 네이버 미소장
10 A malformed girl with a de novo proximal 6q deletion. 네이버 미소장
11 6q1 monosomy: a distinctive syndrome. 네이버 미소장
12 Monosomy 6q: report on four new cases. 네이버 미소장
13 Interstitial deletion (6)q13q15. 네이버 미소장
14 Monosomy 6q1: syndrome delineation. 네이버 미소장
15 Proximal interstitial 6q deletion: a recognizable syndrome. 네이버 미소장
16 Physical and Linkage Mapping of the Human and Murine Genes for the α1 Chain of Type IX Collagen (COL9A1) 네이버 미소장
17 Further delineation of interstitial chromosome 6 deletion syndrome and review of the literature. 네이버 미소장
18 Interstitial deletion (6)q13q15. 네이버 미소장
19 A de novo interstitial 6q deletion in a boy with a split hand malformation. 네이버 미소장
20 Prenatal detection of deletion 6q13q15 in a complex karyotype 네이버 미소장
21 Severe sensory hearing loss in del(6q)-syndrome 네이버 미소장
22 Interstitial 6q deletion: clinical and array CGH characterisation of a new patient 네이버 미소장
23 Hansson K, Szuhai K, Knijnenburg J, van Haeringen A, de Pater J. Interstitial deletion of 6q without phenotypic effect. Am J Med Genet A 2007;143A:1354-7. 미소장
24 Diverse Roles of Eph Receptors and Ephrins in the Regulation of Cell Migration and Tissue Assembly 네이버 미소장
25 Posthumus M, September AV, O’Cuinneagain D, van der Merwe W, Schwellnus MP, Collins M. The association between the COL12A1 gene and anterior cruciate ligament ruptures. Br J Sports Med 2009. 미소장

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