Anthropometric and Metabolic Responses in FTO rs9939609 Gene Polymorphism after a Multidisciplinary Lifestyle Intervention in Overweight and Obese Adolescents [0.03%]
FTO(rs9939609)基因多态性青少年超重和肥胖患者在接受综合生活方式干预后的体质及代谢反应分析
Cláudia Daniela Barbian,Cézane Priscila Reuter,Jane Dagmar Pollo Renner et al.
Cláudia Daniela Barbian et al.
Few studies show the potential changing effect of fat-mass and obesity-associated ( FTO ) rs9939609 gene on cardiometabolic risk after a lifestyle intervention. This study aims to evaluate whether overweight and obese adolescents, carriers ...
The Efficiency of SNP-Based Microarrays in the Detection of Copy-Neutral Events at 15q11.2 and 11p15.5 Loci [0.03%]
基于SNP的微阵列在15q11.2和11p15.5位点检测拷贝中性事件中的有效性
Berk Ozyilmaz,Ozgur Kirbiyik,Taha R Ozdemir et al.
Berk Ozyilmaz et al.
Prader-Willi, Angelman, Beckwith-Wiedemann, and Russell-Silver are imprinting syndromes. In this study, we aimed to compare the efficiency of single nucleotide polymorphism (SNP) microarray analysis with methylation-specific Multiplex ligat...
The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review [0.03%]
儿童唇腭裂或先天性心脏病患者中22q11.2微缺失的系统综述
Diana Cárdenas-Nieto,Maribel Forero-Castro,Clara Esteban-Pérez et al.
Diana Cárdenas-Nieto et al.
The 22q11.2 deletion syndrome (22q11.2DS) is present in approximately 5 to 8% of patients with cleft lip, palate, or both (CL/P) and 75 to 80% of patients with congenital heart disease (CHD). In a literature review, we consider this associa...
Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review [0.03%]
TRAPPC6B障碍的进一步界定：新家系及综述报告
Pratibha Nair,Lara El-Bazzal,Hicham Mansour et al.
Pratibha Nair et al.
Pathogenic variants in the TRAPPC6B gene were recently found to be associated in three consanguineous families, with microcephaly, epilepsy, and brain malformations. Here, we report on a 3.5-year-old boy, born to consanguineous Lebanese par...
Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability [0.03%]
ADAT3新错义变异引起的综合征性智力障碍
Elizabeth Thomas,Andrea M Lewis,Yaping Yang et al.
Elizabeth Thomas et al.
Autosomal recessive variants in the adenosine deaminase, tRNA specific 3 ( ADAT3 ) gene cause a syndromic form of intellectual disability due to a loss of ADAT3 function. This disorder is characterized by developmental delay, intellectual d...
A Newborn with Severe Ventriculomegaly: Expanding the PPP2R1A Gene Mutation Phenotype [0.03%]
PPP2R1A基因突变表型的扩展：一例严重脑室扩大的新生儿病例
Alexandra Wallace,Paul Caruso,Amel Karaa
Alexandra Wallace
Protein phosphatase 2A (PP2A) is a heterotrimeric protein serine/threonine phosphatase that regulates a diverse range of cellular activities. The PPP2R1A gene on chromosome 19 (19q13.41) encodes the α isoform of the scaffolding subunit of ...
A Novel CLCN5 Splice Site Mutation in a Boy with Incomplete Phenotype of Dent Disease [0.03%]
Dent病不全表型男孩的新型CLCN5剪接位点突变
Maria Bitsori,Eleni Vergadi,Emmanouil Galanakis
Maria Bitsori
Dent disease is a rare X-linked renal proximal tubulopathy presenting with low-molecular-weight proteinuria (LMWP), hypercalciuria, and nephrocalcinosis, other signs of incomplete renal Fanconi syndrome, and renal failure. Early identificat...
Mitochondrial m.13513G>A Point Mutation in ND5 in a 16-Year-Old Man with Leber Hereditary Optic Neuropathy Detected by Next-Generation Sequencing [0.03%]
采用新一代测序技术在患莱伯遗传性视神经病变的16岁男性患者线粒体ND5基因中检测到m.13513G>A点突变
Daniel Vázquez-Justes,Lidia Carreño-Gago,Elena García-Arumi et al.
Daniel Vázquez-Justes et al.
This article reports a Leber hereditary optic neuropathy (LHON) case associated for the first time with mitochondrial m.13513G>A mutation. We present a 16-year-old man who complained of subacute, painless, visual loss. Ocular examination sh...
Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith-Wiedemann Syndrome [0.03%]
母系单亲二体的体细胞嵌合突变导致婴儿患不典型贝克威斯-威德曼综合征
Abraham Urzua,Sofia Burattini,Constanza Pinochet et al.
Abraham Urzua et al.
Beckwith-Wiedemann syndrome (BWS) is characterized by overgrowth and increased risk of embryonic tumors. It results from alterations in genes controlled by imprinting centers H19DMR (Imprinting Center [IC] 1) and KvDMR (IC2). Strategies for...
Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant [0.03%]
由于PLPBP纯合错义变异所致的维生素B6可治疗性癫痫未治疗的特征可能是癫痫控制良好的患者出现过度发作簇的一个可能标志
Jessika Johannsen,Tatjana Bierhals,Philipp Deindl et al.
Jessika Johannsen et al.
Recently, mutations in the PLPBP gene were described as a novel cause for vitamin B6-responsive epilepsy. We report the outcome in case of a male adolescent with a novel homozygous missense variant in PLPBP who was never treated with pyrido...