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Congenital motor nystagmus (CMN) is a relatively common oculomotor disorder characterized by bilateral uncontrollable oc......
Hereditary nonsyndromic hearing loss (NSHL) is extremely heterogeneous.During the past decade, remarkable progress has b......
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目的:报道4例男性X连锁Alport综合征n COL4A5突变嵌合体病例，为该病的家庭诊断、遗传咨询和再生育提供科学依据与指导，增强临床......
TAF1基因编码TATA框结合蛋白关联因子1，后者作为转录因子ⅡD的支架，参与真核细胞中众多基因的转录过程。人TAF1蛋白具有多个结构域，发......
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Background:The molecular genetic research showed the association between X-linked hearing loss and mutations in POU3F4.T......
目的 研究一X连锁先天性角化不良(dyskeratosis congenita,DC)家系患者端粒长度与临床表型轻重关系.方法 采用荧光定量PCR方法,对D......
【目的】探讨色素失禁症患儿临床特征，提高对该病的认识。【方法】对本院2004年1月至2013年12月收治的色素失禁症11例患儿临床特点......
目的：剂量敏感的性别反转-先天性肾上腺发育不良基因1（dosage-sensitive sex reversal, adrenal hypoplasia critical region, on ch......
在两个X连锁显性腓骨肌萎缩症（Charcot-Marie-Tooth disease,CMT）家系中进行了GJB1基因的突变分析。提取基因组DNA,PCR（polymerase ch......
目的应用遗传连锁分析方法对X连锁型视网膜色素变性家系进行分析，定位其致病基因的所在位点。方法选取已知X连锁视网膜色素变性候选......
报告1例伴房间隔缺损的X-连锁鱼鳞病.患儿男,9岁.出生后皮肤干燥脱屑,大量片状黑褐色鳞屑,伴左侧肢体运动障碍9年,易劳累7年.心脏......
目的 构建稳定过表达X连锁凋亡抑制蛋白相关因子1（X-linked inhibitor of apoptosis associated factor 1,XAF1）基因的鼻咽癌放射抗......
Expression of X-linked Inhibitor of Apoptosis Protein and Its Effect on Chemotherapeutic Sensitivity
The expression of X-linked inhibitor of apoptosis protein (XIAP) gene and its effect on chemotherapeutic sensitivity in ......
Since X-linked chronic granulomatosis disease(X-CGD)exhibits no specific clinical symptoms at an early stage,early diagn......
目的对一个疑似X连锁型视网膜色素变性（X-linked retinitis pigmentosa，XLRP）家系进行分析，确定其致病基因的所在位点。方法选取已知XL......
Duchenne／Becker muscular dystrophies（DMD／BMD）是人类常见的X染色体连锁隐性遗传的神经-肌肉系统疾病，发病率高，至今尚无有效的治疗方......
In the present review,we describe the most important aspects of the X-linked ichthyosis(XLI)and make a compilation of th......
X连锁磷酸盐调节基因在体内与肾磷重吸收以及骨和牙的矿化密切相关。X连锁磷酸盐调节基因突变可引起骨和牙的形态发生严重改变，例如......
One of the major causes of congenital hypophosphatemic rickets is the X-linked hypophosphatemic rickets (XHR), due to a ......
X-linked agammaglobulinemia also known as Bruton’s disease, is a humoral immunodeficiency disease characterized by recu......
X-Linked Agammaglobulinemia (XLA) is the major primary immunodeficiency in which the body is unable to produce the antib......
X-Linked Dominant Congenital Ptosis Cosegregating with an Interstitial Insertion of a Chromosome 1p2
Blepharoptosis (ptosis) is defined as the abnormal drooping of the upper eyelid and is a feature of many conditions. It ......
Early-onset refractory diarrhea due to immune dysregulation, polyendocrinopathy, enteropathy, X-link
BACKGROUND Immune dysregulation,polyendocrinopthy,enteropathy,X-linked(IPEX)syndrome is a rare X-linked recessive diseas......
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Nasal cytology is a diagnostic tool currently used in rhinology to study either allergic and vasomotor rhinological diso......
Becker muscular dystrophy(BMD) is an X-linked recessive disorder involving mutations of the dystrophin gene. Cardiac inv......
