Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 caused by a paternal balanced insertion (5; 7) [0.03%]
由于父亲的平衡易位(5;7)导致的7P13-14区域14Mb缺失的Greig额指并趾症候群(GCPS)相连基因综合征患儿
Solveig Schulz,Marianne Volleth,Petra Muschke et al.
Solveig Schulz et al.
We report on a six years old boy with several features of Greig cephalopolysyndactyly syndrome (GCPS) including craniofacial dysmorphism, hypertelorism, heart defect, preaxial hexadactyly of toes, partial agenesis of corpus callosum, and se...
A comparison of the genetic and clinical profile of men that respond and do not respond to the immediate antihypertensive effects of aerobic exercise [0.03%]
有氧运动降压反应的遗传和临床特征对比研究
Linda S Pescatello,Bruce E Blanchard,Gregory J Tsongalis et al.
Linda S Pescatello et al.
We compared the genetic and clinical profile of men who lower and do not lower blood pressure (BP) after acute aerobic exercise. Volunteers were 45 men (Mean ± SEM, 43.5 ± 1.5 yr) with high BP (145.7 ± 1.5/85.7 ± 1.1 mmHg). They complet...
Hemodialysis for hyperammonemia associated with ornithine transcarbamylase deficiency [0.03%]
鸟氨酸氨甲酰转移酶缺乏相关性高血氨的血液透析治疗
Jacob F Collen,Nealanjon P Das,Jonathan M Koff et al.
Jacob F Collen et al.
Acute hyperammonemia is a medical emergency requiring rapid recognition and treatment to prevent devastating neurologic sequelae. Its varying etiologies include primary hepatic failure, drug toxicity, infection, and inherited disorders of m...
Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era [0.03%]
分子时代的精神分裂症遗传学的临床应用：基因诊断、风险和咨询
Gregory Costain,Anne S Bassett
Gregory Costain
Schizophrenia is a complex neuropsychiatric disease with documented clinical and genetic heterogeneity, and evidence for neurodevelopmental origins. Driven by new genetic technologies and advances in molecular medicine, there has recently b...