Amniotic band syndrome and/or limb body wall complex: split or lump [0.03%]
胎盘带综合征和/或体壁复合征：分立还是合为一体？
Ashutosh Halder
Ashutosh Halder
Six cases of amniotic band syndrome/limb body wall complex were studied in respect to clinicopathologic characteristics. The diagnosis was based on two out of three of the following manifestations: cranio facial clefts; limb body wall defec...
Inheritance of craniofacial features in Colombian families with class III malocclusion [0.03%]
哥伦比亚III类错牙合家系的颅面部特征遗传性研究
L Otero,L Quintero,D Champsaur et al.
L Otero et al.
Introduction: The inheritance of class III malocclusion has been well documented, but the inheritance of craniofacial structures in Colombian families with this malocclusion has been not yet reported. ...
The genetic overlap of attention deficit hyperactivity disorder and autistic spectrum disorder [0.03%]
注意缺陷多动障碍和自闭症谱系障碍的遗传重叠性
Arie J Stam,Patricia F Schothorst,Jacob As Vorstman et al.
Arie J Stam et al.
Autistic spectrum disorders (ASD) and attention deficit hyperactivity disorder (ADHD) are classified as distinct disorders within the DSM-IV-TR (1994). The manual excludes simultaneous use of both diagnoses in case of overlap on a symptomat...
Association of the BANK 1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry [0.03%]
BANK1 R61H变异体与欧美人和非洲人狼疮易感性的关联研究
Struan Fa Grant,Michelle Petri,Jonathan P Bradfield et al.
Struan Fa Grant et al.
Recently an association was demonstrated between the single nucleotide polymorphism (SNP), rs10516487, within the B-cell gene BANK1 and systemic lupus erythematosus (SLE) as a consequence of a genome wide association study of this disease i...
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...