A Novel Mutation in NIPBL Gene with the Cornelia de Lange Syndrome and a 10q11.22-q11.23 Microdeletion in the Same Individual [0.03%]
NIPBL基因的新突变伴有科内在利亚·德·兰热综合症以及同一样本的10q11.22-q11.23微缺失
Haydar Bağış,Özden Öztürk,Semih Bolu et al.
Haydar Bağış et al.
The Cornelia de Lange syndrome (CdLS) is a genetic disorder characterized by multisystemic malformations. CdLS is due to mutations in one of the following genes: NIPBL , SMC1A , SMC3 , RAD21 , and HDAC8 . On the other hand, 10q11.2 deletion...
Chronic pancreatitis caused by a Homozygous SPINK1 c.194 + 2T > C variant and Pancreas Divisum in a 3-year-old child-case report [0.03%]
一例SPINK1c.194+2T>C纯合突变并联合胰管异常的慢性胰腺炎患儿——病例报告
Katarzyna Zdanowicz,Miroslawa Uscinowicz,Magdalena Rakowska et al.
Katarzyna Zdanowicz et al.
Chronic pancreatitis (CP) is a rare disease in children. We describe the first case of a 3-year-old Caucasian patient with CP with the presence of a homozygous pathogenic variant c.194 + 2T > C in serine protease inhibitor, Kazal type 1 ( S...
Apolipoprotein-E Gene Polymorphism and Lipid Composition among IUGR and AGA Neonates [0.03%]
IUGR和AGA新生儿载脂蛋白-E基因多态性与血脂构成分析
Bharathi Elangovan,Rajesh N T,Meenu Subrahmanian
Bharathi Elangovan
Objective The objective of this study is to study the profile of apolipoprotein E ( APOE ) gene polymorphism and lipid profile among intrauterine growth restriction (IUGR) and appropriate for gestational age (AGA) neonates. This is an obser...
Genetic and Biochemical Predictors of Neonatal Bronchopulmonary Dysplasia [0.03%]
新生儿支气管肺发育不良的基因和生化预测因素
May A K Abdellatif,Eman Eyada,Walaa Rabie et al.
May A K Abdellatif et al.
Bronchopulmonary dysplasia (BPD) is a common complication of prematurity with a multifactorial etiology, influenced by both genetic susceptibility and environmental factors on the immature lung. Fibroblast growth factor receptor-3 and -4 (F...
Triploidy in a Live-Born Extremely Low Birth Weight Twin: Clinical Aspects [0.03%]
一例超低出生体重活产双胞胎三倍体的临床特征
Liliya Vakrilova,Stanislava Hitrova-Nikolova,Irena Bradinova
Liliya Vakrilova
Triploidy is a rare chromosomal aberration characterized by a karyotype with 69 chromosomes. Triploid fetuses usually are miscarried in early pregnancy. We present a case of a triploid twin and a genetically unaffected co-twin, conceived th...
Determination of High-Resolution HLA-DQB1 Suballeles and IL-17 Polymorphisms in Turkish Pediatric Patients [0.03%]
土耳其儿科患者的高分辨率HLA-DQB1亚等位基因和IL-17多态性测定
Aslı Eldem,Tülay Kılıçaslan Ayna,Maşallah Baran et al.
Aslı Eldem et al.
Celiac disease (CD) is an autoimmune enteropathy in the small intestine caused by gluten intolerance of the patients. The most important genetic disease-related factor is human leukocyte antigen (HLA)-DQ polymorphism. Association between in...
Molecular Study of Childhood Steroid-Resistant Nephrotic Syndrome: A Hospital-Based Study [0.03%]
儿童糖皮质激素抵抗型肾病综合征的分子研究：基于医院的研究
Akanksha Singh,Ankur Singh,Om Prakash Mishra et al.
Akanksha Singh et al.
Steroid-resistant nephrotic syndrome (SRNS) patients with genetic mutations most commonly have histology of focal segmental glomerulosclerosis (FSGS) and do not respond to immunosuppressive drugs. We report the molecular screening results o...
Phenotype and Genotype Profile of Children with Primary Distal Renal Tubular Acidosis: A 10-Year Experience from a North Indian Teaching Institute [0.03%]
北印度教学机构十年来原发性远端肾小管酸中毒儿童表型和基因型特征分析：一项回顾性研究
Lesa Dawman,Karalanglin Tiewsoh,Prabal Barman et al.
Lesa Dawman et al.
Primary distal renal tubular acidosis (dRTA) or Type 1 RTA in children is caused by a genetic defect (involved genes ATP6V0A4 , ATP6V1B1 , SLC4A1 , FOXI1 , or WDR72 ), which causes tubular transport defects characterized by an inability to ...
Importance of Immediate Thiamine Therapy in Children with Suspected Thiamine-Responsive Megaloblastic Anemia-Report on Two Patients Carrying a Novel SLC19A2 Gene Mutation [0.03%]
疑似维生素B1响应性巨幼红细胞性贫血患儿立即使用维生素B1治疗的重要性——两例携带SLC19A2基因新突变患者的报道
Anita Spehar Uroic,Dragan Milenkovic,Elisa De Franco et al.
Anita Spehar Uroic et al.
Thiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive disorder characterized by the development of megaloblastic anemia, diabetes mellitus, and sensorineural deafness. We report on the first two Croatian patients with TR...
Status of Catalase, Glutathione Peroxidase, Glutathione S-Transferase, and Myeloperoxidase Gene Polymorphisms in Beta-Thalassemia Major Patients to Assess Oxidative Injury and Its Association with Enzyme Activities [0.03%]
β-地中海贫血患者中 catalase、谷胱甘肽过氧化物酶、谷胱甘肽S转移酶和髓过氧化物酶基因多态性的状况评估氧化损伤及其与酶活性的关系
Poonam Tripathi,Sarita Agarwal,Satyendra Tewari et al.
Poonam Tripathi et al.
Beta-thalassemic patients require regular blood transfusion to sustain their life which leads to iron overload and causes oxidative stress. The aim of this study was to investigate the status of variants in genes including GSTM1 , GSTT1 (nu...