A microsphere-based assay for mutation analysis of the biotinidase gene using dried blood spots [0.03%]
基于微球的斑点干燥血样分析生物素酶基因突变的方法
Barbara Lindau-Shepard,David K Janik,Kenneth A Pass
Barbara Lindau-Shepard
Biotinidase deficiency is an autosomal recessive syndrome caused by defects in the biotinidase gene, the product of which affects biotin metabolism. Newborn screening (NBS) for biotinidase deficiency can identify affected infants prior to o...
The importance of developing novel diagnostic tools for congenital metabolic disorders [0.03%]
开发先天性代谢疾病的新型诊断工具的重要性
Edgard Andrade,Charles Williams
Edgard Andrade
Duplication 3q13.11q23: Longitudinal study in a patient over a period of more than 7 years and refinements of the breakpoints [0.03%]
7年间对染色体3长臂3区1带1亚带1小区至2区3带远端重复的纵向研究及断点细化
Thomas Eggermann,Sabrina Spengler,Ulrike Gamerdinger et al.
Thomas Eggermann et al.
In 2006, we reported the first case with a pure duplication of proximal 3q. In these rare aberrations, detailed clinical and developmental investigations at different ages are required to provide sufficient phenotypic documentation. Clinica...
17q12 Deletion in a patient with Williams syndrome: Case report and review of the literature [0.03%]
17q12缺失在威廉姆斯综合征患者中的报道及文献复习
Lilian Cohen,Joy Samanich,Quilu Pan et al.
Lilian Cohen et al.
Williams syndrome (WS) is a complex genomic disorder entailing distinctive facial dysmorphism, cardiovascular abnormalities, intellectual disabilities, unusual behavioral features, and a specific cognitive profile with considerable variabil...
The phenotype masks the genotype: A possible new expression of diabetes [0.03%]
表型掩盖了基因型：糖尿病的一种新表现形式的可能性
Adriana Mimbacas,Graciela Vitarella,Jorge Souto et al.
Adriana Mimbacas et al.
The concept of a new form of diabetes, with signs of both types 1 and 2, has not been often considered, until recently. It is of immense interest to explore the role of the admixture that characterizes the Uruguayan population (higher and d...
RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation [0.03%]
RASA1分析指导毛细血管畸形-动静脉畸形家系的管理
Leigh Anne Flore,Eyby Leon,Tom A Maher et al.
Leigh Anne Flore et al.
Capillary malformation-arteriovenous malformation (CM-AVM; MIM 60354) is an autosomal dominant disorder characterized by multifocal cutaneous capillary malformations, often in association with fast-flow vascular lesions, which may be cutane...
Inherited and de novo 22q11.2 distal duplications in two patients with autistic features, speech delay and no dysmorphology [0.03%]
两个伴有自闭症特征和言语发育迟缓但无形态异常患者的22q11.2远端片段重复遗传和新发机制的研究
Feras M Hantash,Boris T Wang,Renius Owen et al.
Feras M Hantash et al.
In a screen of patients by fluorescence in-situ hybridization and array comparative genomic hybridization in the past two years (July 2007--July 2009), we identified two patients with duplications in the 22q11.22-23, occurring outside the c...
Initial evidence that polymorphisms in neurotransmitter-regulating genes contribute to being born small for gestational age [0.03%]
多巴胺和5-羟色胺调节基因的多态性与小于胎龄儿出生的关系初步研究
Angharad R Morgan,John M D Thompson,Karen E Waldie et al.
Angharad R Morgan et al.
Being born small for gestational age (SGA) is a putative risk factor for the development of later cognitive and psychiatric health problems. While the inter-uterine environment has been shown to play an important role in predicting birth we...
SMN1 gene copy number analyses for SMA healthy carriers in Italian population [0.03%]
意大利人群中SMA健康携带者SMN1基因拷贝数分析
Alessandra Patitucci,Angela Magariello,Carmine Ungaro et al.
Alessandra Patitucci et al.
The routine molecular test for spinal muscular atrophy (SMA) diagnosis is based on the detection of a homozygous deletion of exons 7 and 8 of the telomeric copy of the survival motor neuron gene (SMN1). The presence of the centromeric copy ...
Examination of genetic variants influencing lipid traits in pediatric populations [0.03%]
儿童人群影响血脂特征的基因变异分析
Kai Wang,Haitao Zhang,Frank D Mentch et al.
Kai Wang et al.
Previous large-scale genome-wide association studies in adult populations have implicated ∽100 loci in determining high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol, or triglyceride levels. However, whether ...