- X-linked Gene Expression Profiles by RNAi-Mediated BRCA1 Knockdown in MCF7 Cells
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Song MA, Park JH, Ahn HJ, Ko JJ, Lee S
- KMID: 2284675
- Genomics Inform.
- 2005 Dec;3(4):154-158.
Germ-line mutations of the BRCA1 gene confer an increased risk for breast and ovarian cancers. BRCA1 in female cells is directly related with the maintenance of the inactive X chromosome... -
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- A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing
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Hong S, Lee CG
- KMID: 2435969
- J Genet Med.
- 2018 Jun;15(1):24-27.
- doi: 10.5734/JGM.2018.15.1.24
Cornelia de Lange syndrome (CdLS) is a rare, clinically and genetically heterogeneous, multi-system developmental disorder caused by mutations in genes that encode components of the cohesin complex. X-linked CdLS caused... -
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- Charcot-Marie-Tooth Disease: Seventeen Causative Genes
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Lee JH, Choi BO
- KMID: 1700741
- J Clin Neurol.
- 2006 Jun;2(2):92-106.
- doi: 10.3988/jcn.2006.2.2.92
Charcot-Marie-Tooth disease (CMT) is the most common form of inherited motor and sensory neuropathy. Moreover, CMT is a genetically heterogeneous disorder of the peripheral nervous system, with many genes identified... -
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- X-linked Charcot-Marie-Tooth Patient with a Novel Cys168Arg Missense Mutation in the Connexin32 Gene
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Choi BO, Sunwoo IN, Park KD, Kim YJ, Choi KG, Lee MS, Hwang JH, Chung KW
- KMID: 2185720
- J Korean Neurol Assoc.
- 2004 Feb;22(1):76-79.
X-linked Charcot-Marie-Tooth (CMTX) disease is a clinically heterogeneous hereditary motor and sensory neuropathy. The X-linked inheritance showed an absence of male-to-male transmission and a more severe disease phenotype in affected... -
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- Association of the X-linked Androgen Receptor Leu57Gln Polymorphism with Monomelic Amyotrophy
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Park YM, Lim YM, Kim DS, Lee JK, Kim KK
- KMID: 2053264
- Genomics Inform.
- 2011 Jun;9(2):64-68.
Monomelic amyotrophy (MA), also known as Hirayama disease, occurs mainly in young men and manifests as weakness and wasting of the muscles of the distal upper limbs. Here, we sought... -
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- A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis
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Kim DH, Heo SH, Seo GH, Oh A, Kim T, Kim GH, Yoon YH, Yoo HW, Lee BH
- KMID: 2435966
- J Genet Med.
- 2018 Jun;15(1):13-16.
- doi: 10.5734/JGM.2018.15.1.13
X-linked juvenile retinoschisis (XLRS) is characterized by the progressive loss of visual acuity and vitreous hemorrhage. XLRS is caused by a mutation of retinoschisin 1 (RS1) gene at Xp22.13. In... -
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- A Study of Genetic Inheritance of Bromidrosis
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Chu HH, Seo YT, Lee HS, Kim YS, Bang YH
- KMID: 2322492
- J Korean Soc Plast Reconstr Surg.
- 1999 Mar;26(2):210-214.
Bromidrosis is a disorder characterized by rancid body odor which influences a patient's social life and mental health. The therapeutic modalities and the mechanism of bromidrosis have been carefully studied,... -
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- Emery-Dreifuss Muscular Dystrophy with Cardiac Involvement
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Park JH, Seung KB, Kim CJ, Ro TH, Chae CS, Kim JH, Hong SJ, Choi KB
- KMID: 2093367
- Korean Circ J.
- 1992 Feb;22(1):160-165.
- doi: 10.4070/kcj.1992.22.1.160
Emery-Dreifuss muscular dystrophy has become recognized as a distinct neuromuscular disorder with features including X-linked inheritance, insidious onset in childhood of a distinct pattern of muscle contractures and weakness, slow... -
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- A Case of 46 , XX Male
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Kim JI, Rhee JH, Kang SS
- KMID: 2261376
- Korean J Obstet Gynecol.
- 1999 Mar;42(3):628-631.
46, XX male is a rare sex cluomasomal constitution characterized by the development of bilateral testis in persons who lack a Y chomosome. The majority of affected persons have normal... -
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- A Case of Kallmann's Syndrome Mildly Presenting as Secondary Amenorrhea
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Joo NR, Park CY, Moon HJ, Kang JG, Ihm SH, Choi MG, Yoo HJ, Lee Y, Oh KW, Park SW
- KMID: 1523094
- J Korean Endocr Soc.
- 2007 Apr;22(2):130-134.
- doi: 10.3803/jkes.2007.22.2.130
Kallmann's syndrome is very rare congenital defect in GnRH (gonadotrophin releasing hormone) secretion involving both sexes. The mode of inheritance has not been fully understood. But, including X-linked inheritance, the... -
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- A Study on the Genetic Inheritance of Ankyloglossia Based on Pedigree Analysis
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Han SH, Kim MC, Choi YS, Lim JS, Han KT
- KMID: 2120685
- Arch Plast Surg.
- 2012 Jul;39(4):329-332.
- doi: 10.5999/aps.2012.39.4.329
BACKGROUND: Ankyloglossia or tongue-tie is a congenital anomaly characterized by an abnormally short lingual frenum. Its prevalence in the newborn population is approximately 4%. Its mode of inheritance has been... -
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- Hunter Syndrome
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Kim YY, Lee CM, Kim TW, Chung YH
- KMID: 1667863
- J Korean Pediatr Soc.
- 1980 Feb;23(2):153-157.
A 7-year and 5-month old boy with Hunter syndrome is presented. Progressive mental retardation with hearing loss, speech disturbance and growth retardation developed at 1 year of age. Physical findings... -
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- The Genetics of Vitiligo in Korean Patients
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Kim YC, Kim W, Hann SK
- KMID: 2303529
- Korean J Dermatol.
- 1996 Dec;34(6):968-972.
BABCKGROUND: Vitiligo is a cornmon disorder whose cause is not well understood. Up to 30% of patients had another family member with vitiligo which means that vitiligo is a heritable... -
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- CAG Repeats in the Androgen Receptor Polymorphism do not Correlate with Thyrotoxic Periodic Paralysis
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Kim WG, Kim TY, Kim JM, Rhee YS, Choi HJ, Kim WB, Shong YK
- KMID: 2063562
- J Korean Endocr Soc.
- 2008 Apr;23(2):117-122.
- doi: 10.3803/jkes.2008.23.2.117
BACKGROUND: Thyrotoxic periodic paralysis (TPP) occurs mostly in males, but no studies have addressed the role of androgen in the disease. Hyperinsulinemia can precipitate acute paralysis in TPP patients. CAG... -
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- Mutation Analysis of PIG-A Gene in Korean Patients with Paroxysmal Nocturnal Hemoglobinuria
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Yoon JH, Cho HI, Park SS, Chang YH
- KMID: 2083413
- Korean J Hematol.
- 2000 May;35(2):143-149.
BACKGROUND: Paroxysmal nocturnal hemoglobinuria (PNH) is caused by deficient biosynthesis of the glycosylphosphatidylinositol (GPI) anchor in hemopoietic stem cells. Mutation of phosphatidyl inositol glycan class A (PIG-A) gene, an X-linked... -
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- Analysis of X Chromosome Inactivation in Women with Premature Ovarian Failure
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Sohn IS, Yoo D, Jang DW, Cha YJ, Kim SN, Lee JY, Yun BI, Chung SC, Park KH, Lee BS, Hwang KJ, Zinn AR
- KMID: 2077124
- Korean J Obstet Gynecol.
- 2004 Aug;47(8):1558-1564.
OBJECTIVE: Premature ovarian failure (POF) is a highly heterogenous condition, and its etiology remains unknown in approximately two-thirds of cases. POF can be caused by Turner syndrome, genetic disease, iatrogenic... -
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